Pylephlebitis is an uncommon entity characterized by septic thrombophlebitis of the portal vein and its tributaries, with more frequent involvement of the right portal vein branch. In 1846, Waller first described it as a possible origin of liver abscesses.1,2 The literature on pylephlebitis is restricted to case reports. The estimated incidence is 2.7 cases per 100,000 people per year. It is closely associated with intra-abdominal inflammatory and infectious processes, especially pancreatitis, diverticulitis, and peritonitis. Cholecystitis, as observed in our case, was identified in approximately 7% of pylephlebitis cases. The main risk factors associated with its development are smoking, previous abdominal surgeries, and the use of antiplatelet agents.2 Although the pathogenesis of pylephlebitis is not yet well-established, it has been associated with a hypercoagulability state and bacterial translocation, specially by gram-negative bacteria such as Bacteroides fragilis, Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis and Enterobacter spp.3 The clinical picture of pylephlebitis is nonspecific, with fatigue, abdominal pain, fever, nausea, and vomiting, which contributes to a delay in diagnosis and the initiation of therapy, leading to high rates of morbidity and mortality. The typical pathological findings of pylephlebitis are polymorphonuclear inflammatory infiltrate causing venulitis in the portal veins, with endothelial tumefaction, desquamation, and fibrinoid necrosis. The suppurative inflammatory reaction frequently invades the adjacent parenchyma.4 Figure 1 refers to the autopsy finding of a 56-year-old man, diagnosed with hypertension, diabetes, and dyslipidemia, who presented with nonspecific abdominal pain, evolving 2 weeks later with fever and loss of appetite. He was admitted to the emergency department with jaundice, septic shock, and encephalopathy, dying one day after admission despite the intensive care treatment. The autopsy revealed an enlarged, congested, and friable liver that weighed 2789 g (reference range: 1500-1800); the gallbladder had a thick wall filled with multiple blackened calculi, compatible with calculous cholecystitis. The histologic exam showed portal venulitis, with fibrino- leukocytic exudate sparing the biliary tract and the hepatic artery associated with numerous hepatic abscesses (Figure 1). Figure 1 A - Gross examination of the congested and friable liver (weight: 2789,0 g); B - Gallbladder with chronic inflammation due to calculi; C - Photomicrograph of the liver shows portal venulitis, with a suppurative inflammatory reaction and fibrin (black arrow), sparing the biliary tract (blue arrow) and the hepatic artery (red arrow) (H&E, 400X).:
Melanoma arising in the hard palate is an exceedingly rare entity, comprising a minute fraction of all melanoma cases. The absence of specific clinical signs often leads to delayed diagnosis and subsequent challenges in treatment planning. We discussed the existing literature to elucidate the epidemiology, risk factors, and molecular pathways associated with melanoma of the hard palate. Additionally, we discuss the importance of a multidisciplinary approach involving dermatologists, otolaryngologists, oncologists, and pathologists in diagnosing and managing this condition. A 62-year-old male patient presented with a pigmented lesion on the hard palate mucosa, which was initially asymptomatic but gradually increased in size. Biopsy revealed melanoma, confirmed through immunohistochemical staining. Staging investigations indicated a metastatic disease. Surgery followed by adjuvant therapy was planned; however, he was lost for the follow-up. Melanoma originating from the hard palate mucosa is exceedingly rare, posing diagnostic and therapeutic challenges. Early detection, accurate diagnosis, and prompt multidisciplinary management are crucial for optimal outcomes. This case underscores the importance of comprehensive evaluation and tailored treatment strategies in patients with uncommon mucosal melanomas.
Biliary atresia (BA) is a progressive inflammatory cholangiopathy of infancy that results in fibrous obliteration of the extrahepatic and intrahepatic bile ducts. In untreated patients, this leads to biliary-type cirrhosis within the first two years of life. Timely diagnosis of BA with a lack of significant hepatic fibrosis is critical and surgical drainage (Kasai procedure) within the first two months of life is the initial treatment modality with the highest success rate. Ultimately, liver transplantation is required due to surgical drainage complications, such as recurrent cholangitis, failure to thrive, and portal hypertension (PHTN). Histopathological findings of hepatectomy specimens after failed and successful Kasai procedures are vastly different depending on the subsequent course of liver disease. Bile flow is inadequate following a failed Kasai procedure with rapid development of biliary cirrhosis. Explants from patients with successful Kasai procedure may show cholestatic (recurrent cholangitis), vascular (obliterative venopathy, regenerative hyperplasia, and PHTN), or an interplay of both cholestatic and vascular abnormalities. Pathologists need to be aware of explant histopathology (post-successful Kasai procedures) with a clinical course dominated by PHTN for precise documentation of vascular abnormalities.
Schistosomiasis is an infectious disease caused by parasitic flatworms of the genus Schistosoma. The species Schistosoma mansoni is associated with hepatosplenic disease. Schistosomiasis involving the gallbladder alone is highly unusual, with a few cases reported. Herein, we present the case of a woman from a region with endemic schistosomiasis who presented with a painless solid lesion and wall thickening of the gallbladder. She underwent an uneventful laparoscopic cholecystectomy. Microscopic examination of the surgical specimen revealed Schistosoma mansoni eggs associated with granulomatous reaction, leading to the diagnosis of schistosomiasis of the gallbladder, prompting subsequent treatment with praziquantel and follow-up. This case illustrates the importance of suspicion for this diagnosis in endemic areas, as it can be misdiagnosed with malignancy if not examined microscopically. Complications and treatment strategies are poorly characterized for the few cases of schistosomiasis; reporting this case can serve as a helpful reminder of a rare presentation of this disease.
Castleman disease (CD) is a rare, benign lymphoproliferative disorder, mostly involving the mediastinal lymph nodes, but can occur wherever lymphoid tissue is found. With only a few published case reports, there needs to be more literature on its cytological findings. We report the case of a 63-year-old female presenting with left upper cervical swelling. Fine needle aspiration cytology smears showed variably sized lymphoid follicles with diminished germinal centers, prominence of follicular dendritic cells, and capillaries traversing some of the follicles. The possibility of a hyaline-vascular type of Castleman disease was suggested. Histopathology confirmed the cytological diagnosis. The index case is being presented to discuss the cytological features of the CD along with its histological and immunohistochemical correlation.
Herein, we report the case of primary amyloidosis with multi-organ involvement in a female patient in her 50s. The patient had a history of relapsing polychondritis, chronic kidney disease, and monoclonal gammopathy of undetermined significance (MGUS). The clinical manifestations included neuropathic pain, sensorimotor polyneuropathy, intrahepatic cholestatic liver injury, gastrointestinal symptoms, dysautonomia, and myocardial thickening. Initial histologic evaluations of the abdominal fat pad aspirate and bone marrow biopsy were negative for amyloid deposition. However, due to a high index of suspicion, a second bone marrow biopsy was performed, confirming the presence of the amyloid protein. Given the patient's complex medical history, other types of amyloidosis, such as AA amyloidosis, AL amyloidosis, and ß2-microglobulin amyloidosis, should also be considered as differential diagnoses. The type of amyloid protein was subsequently identified through laser microdissection of amyloid fibrils followed by liquid chromatography-tandem mass spectrometry as AL-lambda (amyloid light-chain) amyloidosis. The patient presented unfavorable evolution, with progressive dysautonomia, being admitted to the ICU, culminating in refractory circulatory shock, and undergoing an empirical broad-spectrum antibiotic therapy. After a few days, she presented pulseless ventricular tachycardia, culminating in her death, before undergoing specific treatment. This article highlights the crucial role of precise identification in guiding appropriate therapeutic strategies for this complex, yet potentially severe, diseases.
Multicystic encephalopathy is a rare neurological finding characterized by the appearance of multiple cystic or cavitary lesions as the result of repetitive episodes of hypoxic-ischemic injury in neonates and infants. We present a rare case of multicystic encephalopathy in a 3-month-old male, born at 34 weeks with Tetralogy of Fallot and multiple comorbidities. Gross examination of the brain during the autopsy revealed multiple irregular cystic lesions and distortion of the brain parenchyma. This case report highlights the uniqueness of multicystic encephalopathy and offers an extensive review of the existing literature, including etiology, clinical presentation, and histopathologic findings.
Cryptococcosis occurs primarily in immunocompromised patients. It is difficult to suspect in an immunocompetent patient presenting with a headache. The clinical manifestations of cryptococcosis can be subtle in a patient whose immune system is responding, but inadequate. This is the report of a case of fatal cryptococcosis initially misdiagnosed as a sinus headache on the basis of a telephone call, and then misdiagnosed as aseptic meningitis on the basis of mild findings and negative cerebrospinal fluid cultures. Autopsy revealed unsuspected severe cryptococcal meningoencephalitis. Cerebrospinal fluid nuclear acid amplification (NAA) panels including Cryptococcus should enable the diagnosis of unsuspected cryptococcal meningitis in most cases, but can be false positive, which could be adjudicated by cryptococcal antigen and culture. It will remain important to test for cryptococcal antigen and to maintain a broad differential diagnosis for all patients with meningitis.
Atypical parathyroid tumor (APT) is a rare neoplasm of the parathyroid gland, which shows atypical cytological or architectural features and lacks definite diagnosis criteria for malignancy. These cases can cause diagnostic challenges owing to their rarity and similarity with thyroid neoplasm on imaging and fine needle aspiration cytology. Also, differentiating APT from giant parathyroid adenoma or parathyroid carcinoma can be challenging based on clinical, imaging or cytological features. A 49-year-old male presented with clinical features of hyperparathyroidism. On laboratory evaluation, his serum calcium and serum parathyroid hormone was elevated. Imaging studies suggested a possibility of left inferior parathyroid neoplasm, and fine needle aspiration cytology showed features suggestive of parathyroid neoplasm. However, exact categorization of parathyroid tumor was difficult in pre-operative work-up. Possibilities of giant parathyroid adenoma as well as parathyroid carcinoma were considered. A final diagnosis of an atypical parathyroid tumor was made after detailed histopathological evaluation given focal capsular invasion but lack of unequivocal evidence of malignancy in the resected specimen. APT is a rare neoplasm of uncertain malignant potential. Knowledge of the radiological and pathological features will be helpful in accurately identifying the lesion and avoiding misdiagnosis.
Chondroblastic osteosarcoma is a unique form of osteosarcoma defined by malignant cells producing osteoid and cartilaginous matrix.1,2 While osteosarcoma is an uncommon disease, accounting for less than 1% of all cancers, chondroblastic osteosarcoma accounts for 25-30% of osteosarcoma occurrences.2,3 It commonly affects the metaphyseal areas of long bones, particularly the distal femur, proximal tibia, and proximal humerus.2 This discussion aims to evaluate the existing literature on chondroblastic osteosarcoma of the upper tibia, focusing on significant findings, diagnostic problems, treatment methods, and results. Patients with chondroblastic osteosarcoma of the upper tibia typically present with nonspecific symptoms such as localized pain, swelling, and restricted range of motion.3,4 In some circumstances, pathological fractures can occur, causing symptoms to worsen suddenly. However, due to the deep-seated nature of the tumor within the bone, clinical discovery may be delayed, resulting in advanced disease at diagnosis.1,3 Chondroblastic osteosarcoma is diagnosed based on clinical, radiographic, and histological findings. Radiographically, the tumor typically appears as an aggressive lytic lesion with areas of mineralization and cortical damage.4,5 However, identifying chondroblastic osteosarcoma from other bone tumors, such as chondrosarcoma or Ewing sarcoma, can be difficult based only on imaging. Histopathological analysis of a biopsy specimen is required for a definitive diagnosis, which reveals the presence of osteoid and cartilaginous matrix generated by malignant cells.2,3 The cornerstone of treatment for upper tibial chondroblastic osteosarcoma is multimodal therapy, which includes neoadjuvant chemotherapy, surgical resection, and adjuvant therapy.1,2 Neoadjuvant chemotherapy seeks to shrink the tumor, reduce its size, and eliminate micrometastatic illness.3 Surgical excision with wide margins is required to achieve local control and reduce the chance of recurrence. Adjuvant chemotherapy can be given postoperatively to target residual illness and avoid distant metastases.4,5 Despite breakthroughs in multimodal therapy, the prognosis for chondroblastic osteosarcoma remains uncertain, especially in cases of advanced disease at presentation or insufficient surgical resection margins.2 The overall survival rate varies according to tumor stage, histological grade, treatment response, and the occurrence of metastases.4 Long-term follow-up is required to check for cancer recurrence and late treatment effects, such as the development of second malignancies or treatment-related problems.1,5 More studies are needed to determine the molecular pathways behind chondroblastic osteosarcoma carcinogenesis and progression.3,4 This could help develop targeted therapy tailored to the precise genetic abnormalities and signaling pathways involved in the disease. Furthermore, prospective research examining novel treatment techniques and predictive biomarkers is needed to increase therapy efficacy and patient outcomes.1,2 Chondroblastic osteosarcoma of the upper tibia is challenging to diagnose and treat because of its rarity and anatomical position.4 A multidisciplinary strategy that includes precise diagnosis, neoadjuvant chemotherapy, surgical resection, and adjuvant therapy is critical for optimizing results in these patients.1 Long-term follow-up is required to check for illness recurrences and provide timely intervention if warranted. This example highlights the significance of comprehensive management measures in the treatment of chondroblastic osteosarcoma.4,5 Figure 1 refers to a 13-year-old female patient who presented to our hospital complaining of pain and swelling in the right knee region for three months. There was no history of trauma, weight loss, or anorexia. On inspection, the right knee showed diffuse swelling of 20 x 20 cm, with no engorged veins, open wound, or discharge. On palpation, there was a local rise in temperature with severe tenderness, hard consistency, and diffuse margin in the right knee. The X-ray was consistent with a lytic sclerotic epiphysial-metaphyseal lesion of the proximal tibia, which had a large soft tissue component breaching the cortex. A computed tomography angiogram (CT angiogram) shows a heterogeneously enhancing expansile lytic destructive lesion with aggressive periosteal reaction seen over the meta-diaphyseal region of the upper end of the right tibia reaching up to epiphysis and involving joints. A large heterogeneously enhancing lobulated soft tissue component with osteoid matrix and calcific foci measuring 11 x 13 x 14 cm seen reaching up to fascia was depicted post-contrast. Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) was consistent with an aggressive lesion involving the proximal epi-metaphyseal region of the right tibia with intra-articular extension and invasion to adjacent structures. A biopsy of the proximal tibial lesion showed features of dedifferentiated osteosarcoma. Subsequently, the patient was operated on for the above-knee amputation without any complications. Microscopic examination of the proximal tibial lesion shows a cellular tumor infiltrating bone and soft tissue. Tumor cells exhibited moderate to marked pleomorphism, including vesicular nuclei, prominent nucleoli, and moderate cytoplasm. Lacy-like osteoid material was seen between tumor cells. There were frequent mitoses but no necrosis. The cartilage nests and lobules showed enhanced cellularity, nuclear atypia, and osteoid matrix material revealed histomorphological features of Chondroblastic osteosarcoma. The tumor did not involve all the resection margins. The patient had an uneventful postoperative recovery. The patient was scheduled for regular follow-up to monitor disease progression with imaging studies to detect any local recurrence or metastasis signs. Figure 1 A – Gross view of the above knee amputation showing a greyish faint white tumor in the proximal tibia (scale bar = 14 cm); B – shows a grey-white infiltrative tumor involving the upper end of the proximal tibia (scale bar = 10 cm), C - shows islands of osteoid matrix within the cartilaginous area. The periphery of the cartilaginous areas shows condensation and spindling of the tumor cells (H&E x100); C – shows areas of osteoid production with spindling of the tumor cells (H&E x200); D – shows cartilaginous differentiation of the tumor with foci of osteoid production in this chondroblastic osteosarcoma (H&E x200).:
Figure 1 A – external and cross-sectional macroscopic view of the radial artery. Note thickening of the arterial wall; B – at histology, massive media calcification is evident (arrows), plus mild intimal fibrotic thickening (asterisks). Note internal elastic lamina (arrowheads), the internal limit of the medial layer (HE stain).: Arteriosclerosis, i.e., “hardening of the arteries”, is currently subdivided into atherosclerosis, Mönckeberg calcified sclerosis (MCS), and arteriolosclerosis. MCS was first described in 1903, characterized by calcific deposits affecting only the tunica media of large and medium-sized muscular arteries without significant luminal stenosis. However, MCS can coexist with classical atherosclerosis, characterized by atheroma plaques in the intima. MCS is rarely seen in patients under the 5th decade of life and is associated with the presence of diabetes mellitus and/or chronic kidney disease. The etiology and pathogenesis of MCS are currently poorly understood.1,2 The use of arterial grafts in myocardial revascularization surgery is associated with a lower rate of adverse cardiac events and a higher rate of patency of the grafts at 5 years of follow-up. Besides the left internal thoracic artery, the right one and the radial artery have been used, particularly when complete revascularization is pursued in patients with multivessel coronary artery disease.3 However, when planning myocardial revascularization, surgeons should be aware that pathological alterations, particularly arteriosclerosis, can affect arterial conduits. Concerning the radial artery, there are previous reports of MCS preventing arterial catheterization and, more importantly, preventing its use as an arterial graft in myocardial revascularization surgery.4,5 A 69-year-old man presented to our hospital with unstable angina. He had systemic hypertension and type II insulin-dependent diabetes mellitus. A previous myocardial infarction occurred 25 years ago, treated with coronary angioplasty and a stent position in the right coronary artery. He was previously submitted to amputation of several toes. No renal dysfunction was detected during the current hospitalization. Coronary angiography demonstrated severe obstructive atherosclerotic lesions in the left trunk and anterior descending coronary artery, plus occlusive thrombosis of the right coronary artery. Myocardial revascularization surgery was planned with the use of internal thoracic and radial arteries. However, at the operation table, the surgeon noticed the radial artery was severe and diffusely calcified and decided to abort its use. The revascularization surgery was successfully concluded using the left internal thoracic artery and two saphenous vein grafts. The Pathology laboratory received a 16 cm long artery presenting an external diameter ranging from 0.4 to 0.6 cm. The artery was diffusely hardened and presented a calcified aspect. After chemical decalcification, the artery was cross-sectioned and moderate to severe thickening of the wall was noticed (Figure 1A). At histology, there was massive calcification of the media and mild multifocal, fibrotic thickening of the intima (Figure 1B). There were no lipid deposits or calcification of the intima. We concluded for severe MCS plus mild atherosclerosis.
Solitary fibrous tumor (SFT) is a soft tissue tumor of mesenchymal origin involving, most commonly, the pleura. Intrapulmonary SFT is a slow-growing tumor that rarely reaches giant forms. SFTs are asymptomatic and often randomly discovered by routine chest X-rays. The diagnosis requires histopathological and immunohistochemical (IHC) examinations. Most of the SFTs are benign and present an indolent course. Larger tumors are more likely to be malignant and consequently associated with a worse prognosis. Despite having histopathological criteria for malignancy, the behavior of SFTs is challenging to predict. We report a case of giant intrapulmonary SFT of intermediate risk.
Dermatomyositis is a heterogeneous systemic disease, with 7% to 10% of the individuals presenting the Anti MDA-5 antibody. This subset of patients has clinically amyotropic dermatomyositis, presenting with cutaneous ulcer and rapidly progressive interstitial lung disease. We report the case of a 22-year-old male with a six-month history of low-grade fever associated with myalgia, polyarthralgia, and marked weight loss. He had a history of shortness of breath and high-grade fever 15 days before admission. His clinical features and imaging workup were consistent with acute respiratory distress syndrome. A nasal swab was positive for H1N1 influenza virus infection. During the disease investigation, he succumbed after nine days of admission. The autopsy examination showed diffuse alveolar damage on a background of non-specific interstitial pattern of injury in the lungs. His postmortem muscle biopsy revealed subtle changes of inflammatory myopathy. The brain showed diffuse subarachnoid hemorrhage. Evaluation of postmortem serum sample revealed positivity for Anti MDA-5 and Ro-52 antibodies. This was a case of Anti MDA-5 and Ro-52 associated dermatomyositis with non-specific interstitial pneumonia pattern of lung injury complicated with H1N1 influenza pneumonia, leading to diffuse alveolar damage and subsequent respiratory failure and death. Serum Anti MDA-5 antibodies represent an important biomarker for diagnosing and predicting prognosis for patients with idiopathic inflammatory myopathies, especially clinically amyopathic dermatomyositis. Anti-Ro-52 has been reported in a wide variety of autoimmune diseases, particularly in myositis, scleroderma, and autoimmune liver diseases. Ro-52 autoantibodies are associated with interstitial lung disease (ILD), and their presence should encourage the clinician's curiosity to search for ILD.
Virchow’s law of thrombosis states that thrombosis in a vessel occurs as a combination of the following: (i) injury to the vessel wall, (ii) stasis of blood flow, and (iii) blood hypercoagulability. Injury to the wall includes infection/inflammation and/or injury to the resident cells of the wall. We postulate that in COVID-19, the SARS-CoV-2 virus directly infects the alveolar type II cell or directly or indirectly infects/injures the pericyte, promoting inflammation and interaction with endothelial cells, thereby causing a cascade of events leading to our observation that thrombosis occurred within the walls of the pulmonary vessels and not in the lumen of the vascular circulation.
The effectiveness of the autopsy as an educational tool in forensic medicine courses has been widely acknowledged, and medical students were expected to attend regularly. Nevertheless, the use of autopsies for teaching has dramatically declined in recent years and worldwide despite their high-value benefits. This study aims to understand the importance and relevance of attending autopsies during forensic teaching sessions and identify any challenges that may impede attendance. A self-administered online questionnaire that assesses the knowledge, attitudes, and practices related to autopsies attendance was distributed to fourth-year medical students at the National Defence University of Malaysia and Universiti Sains Islam Malaysia. A total of 99 respondents were involved in this study. Our findings indicate that most respondents (over 85%) demonstrated good knowledge of forensic medicine. Pearson's statistical test revealed a significant correlation between the knowledge and students' attitudes toward autopsy. This study demonstrates the need to strategically integrate autopsy attendance into medical curricula to encourage constructive attitudes and practices among medical students. Students gain the most benefits from frequently attending autopsies. Passionate educators can conduct preparatory sessions to set expectations and address concerns, encourage students to process their experiences, and reinforce learning outcomes in the mortuary setting. Mandatory autopsy teaching should be integrated into the curriculum to ensure medical students have the necessary skills and knowledge to become competent doctors.
Dentinogenic ghost cell tumor (DGCT) is a rare benign neoplasm form of calcifying odontogenic cyst (COC) characterized by ghost cells. Although benign, it presents an aggressive behavior. DGCT accounts for 2% to 14% of all COCs and less than 0.5% of all odontogenic tumors. It is a benign odontogenic tumor despite its local invasion and the likelihood of recurrence. To detect recurrence, central DGCT patients must be monitored long-term. We present the case of a 51-year-old male who reported pain in the right upper back tooth region. On examination, a soft to firm, bright red swelling was present in the buccal vestibule and gingival margin of the maxillary right first and second molar, which extended up to the palate. Histopathological analysis confirmed the diagnosis of a DGCT, which occurred in a previously treated calcifying odontogenic cyst. The case is reported here, along with a review of the literature update of such recurred instances in the past.
To the Editor: Cholangiocarcinoma (CCA) is a rare malignancy of the biliary tract, comprising 3% of all gastrointestinal cancers.1 Typically diagnosed in the seventh decade of life, it seldom occurs in the pediatric age group, making cases in pediatric patients notable.2 CCA in children and adolescents is frequently associated with underlying risk factors. In contrast, only 30% of adults exhibit them.3 We report the youngest presentation of a sporadic case of CCA in a 5-year-old boy with an unremarkable medical history. A 5-year-old boy presented with a 15-day history of progressive abdominal distension and vomiting. Notably, there was no weight loss, fever, or jaundice. Clinical examination revealed a distended abdomen with dilated veins and marked hepatosplenomegaly. Laboratory findings included a hemoglobin of 12.5 g/dL (13-18 g/dl), a white blood cell count of 14,810/μL (4000-11500/uL), and a platelet count of 341,000/μL (331000/uL). The biochemical profile revealed a total serum bilirubin level of 0.6 mg/dL (0.2-1.2 mg/dL), serum aspartate aminotransferase of 37 U/L (up to 35 U/L), serum alanine transaminase of 11 U/L (up to 55 U/L), albumin of 3 g/dl (3.5-5.2 g/dL), and an INR of 1.1. Tests for human immunodeficiency virus, hepatitis B surface antigen, and hepatitis C virus were negative. The abdominal and pelvic contrast-enhanced computed tomography revealed an enlarged liver with multiple scattered, well-defined hypodense lesions, the largest in segment VI of 3.3x3.0cm. The spleen was enlarged, without focal lesions. Multiple paraaortic and mesenteric lymph nodes were enlarged, and the abdomen had moderate free fluid. Serum carbohydrate antigen 19-9 (CA 19-9) was l136 U/mL (RR: 0-37 IU/mL), and alpha-fetoprotein was 2.19 IU/mL (RR: 0-8 IU/mL). An ultrasound-guided liver biopsy revealed a neoplasm characterized by tumor cells with eosinophilic cytoplasm, vesicular nuclear chromatin, and prominent nucleoli arranged in a glandular pattern, cords, and nests. Immunohistochemistry (IHC) results were strongly positive for CK7 and CK19 and negative for CK20, SALL4, AFP, Glypican 3, HepPar1, Arginase1, and β-catenin, suggesting CCA (Figure 1). Figure 1Photomicrographs of the liver biopsy. A – Microscopy displaying a neoplasm composed of tumor cells arranged in a glandular pattern, cords, and nests (H&E, 10X); B – positive, diffuse, and strong cytoplasmic reaction for CK19 (10X); C – negative reaction for CK 20 (10X); D – negative reaction for HepPar1(10X).: Fluorodeoxyglucose positron emission tomography (FDG-PET) indicated liver enlargement with FDG avid multiple hypodense lesions but no distant metastasis. Pediatric surgery consultation was sought, but due to the poor general condition of the patient and multifocal lesions in the liver, it was deemed inoperable. The child underwent systemic chemotherapy with gemcitabine and cisplatin. After two cycles, the patient developed massive pleural effusion, ascites, and respiratory failure. Repeat FDG PET indicated progressive disease, and the patient continued on supportive measures but ultimately succumbed to the illness. Parents were counselled to an autopsy to search for any underlying hepatic disease but were not willing to do the same. CCA is an extremely rare malignancy in children, with an incidence of 0.0036/100,000, compared to that of 1.67/100,000 in the adult population.4 It is a bile duct malignancy and is divided into three subtypes depending on their anatomical site of origin: intrahepatic (iCCA), perihilar (pCCA), and distal CCA (dCCA). The most characteristic and common presentation of extrahepatic cholangiocarcinoma (eCCA) is jaundice and is seen only in 10-15% of cases of iCCA. iCCA is located in the liver parenchyma proximal to the second-degree bile ducts and generally presents with nonspecific symptoms like abdominal pain, nausea, weight loss, malaise, and night sweats. Diagnosis is often delayed in such cases. It also has a propensity for liver metastasis. Surgical resection with negative tumor margins is achieved only in 45% of the patients.5 Several risk factors have been linked to CCA like congenital biliary dilatation, choledochal cyst, choledocholithiasis, Caroli disease, primary sclerosing cholangitis (PSC), progressive familial intrahepatic cholestasis (PFIC), viral infections (Hepatitis B virus and hepatitis C virus), Inflammatory bowel disease, and Opisthorchis viverrine and Clonorchis sinensis infection.6-8 Most pediatric and adolescent cases have underlying risk factors for CCA, while only 30% have an underlying risk factor in adults. An extensive search revealed only three cases reported in English literature of pediatric cholangiocarcinoma presenting in the first decade of life. All cases had underlying risk factors; PFIC in 2 and 1 had congenital biliary dilatation. The presenting complaints were fever, pruritis, abdominal pain, and vomiting, and none of them had features of biliary obstruction. Two of them were diagnosed with iCCA and succumbed to their illness within 5 months of diagnosis. One had eCCA who underwent surgical resection and is alive post-year after surgery.6,8 To the best of our knowledge, our case represents the youngest presentation of sporadic CCA (Table 1). Table 1 Summary of patients with pediatric cholangiocarcinoma presenting in the first decade of life described in the literature: Ref. Age (years)/ Sex Comorbidities Presenting symptoms Tumor markers Site Treatment Status/ Follow up Scheimann et al.8 4/F PFIC Fever CA 19-9 132 IU/mL ICCA Chemo Death within 5 months from diagnosis Giant cell hepatitis Biliary cirrhosis AFP-61.5 IU/mL Scheimann et al.8 7/F PFIC Pruritis Not available ICCA None Death within 4 months from diagnosis Giant cell hepatitis Biliary cirrhosis Saikusa et al.6 3/M Congenital biliary dilatation with pancreaticobiliary maljunction Abdominal pain Not available ECCA Resection Alive/ 1 year Index case 5/M No comorbidities Abdominal distension CA 19-9- 136 IU/mL ICCA Chemo Death within 2 months from diagnosis AFP (–) 2.19IU/mL AFP: Alpha-fetoprotein. CA: Carbohydrate antigen; Chemo: chemotherapy; ECCA: Extrahepatic cholangiocarcinoma; ICCA: Intrahepatic cholangiocarcinoma; PFIC: Progressive familial intrahepatic cholestasis. Morphologically, CCA can be tubular/acinar adenocarcinoma with well, moderate, or poor differentiation and show immunopositivity for CK7, CK19, and EMA. Metastatic colorectal adenocarcinoma, upper gastrointestinal tract cancers, and metastatic pancreaticobiliary adenocarcinoma are close differentials and can be differentiated based on CK20 and a comprehensive IHC panel including MUC2, MUC5AC, CA19-9, mCEA, CA125, SMAD4, respectively.9 The prognosis for children and adolescents with CCA is unfavorable. Surgery is a potentially curative option; however, most patients have metastatic or locally advanced disease at presentation, and only 25% are eligible for resection. Robust data supports the use of first-line cisplatin and gemcitabine chemotherapy in adults with advanced disease.10 Survival is related to the extent of disease spread; thus, early diagnosis of CCA is essential for positive outcomes.
Extramedullary plasmacytoma is a rare localized plasma cell neoplasm typically found in soft tissues outside the bone marrow. Predominantly occurring in the head and neck region, particularly in the sinonasal and nasopharyngeal areas, it presents a diagnostic challenge due to its uncommon nature. Herein, we report a 38-year-old female patient with Down’s syndrome with a 2-year complaint of intermittent dysphonia, hoarseness, and progressive respiratory distress, including dyspnea, fatigue, and biphasic stridor. Examination via flexible laryngoscopy revealed a white lesion, prompting direct microscopic laryngeal surgery to excise a 1x1 cm mass. Histological findings confirmed the diagnosis as solitary extramedullary plasmacytoma. Notably, this represented the first documented case of laryngeal solitary extramedullary plasmacytoma in a patient with Down’s syndrome. This case underscores the importance of considering tumor development in the larynx among individuals with Down’s syndrome, highlighting the necessity for tailored management strategies to address such occurrences effectively. Increasing awareness of this association can aid in early detection and appropriate treatment of tumors in this population.
Prostatic adenocarcinoma is the most common type of cancer in men, with subsequent lesions most commonly occurring in the lymph nodes, bones, and lungs.1,2 We discuss the clinical case of a 59-year-old man who presented after radical prostatectomy for prostate cancer with a unilateral metastasis in the right testis. Metastases to the testis are uncommon, occurring in less than 4% of cases.2,3 This kind of metastasis is usually unilateral, manifesting as a palpable testicular mass, and rarely involves both the testis and the epididymis.1,2 Secondary neoplasms of the testis are found in around 2.5% of autopsies, including nonneoplastic fatalities.2 Most secondary testicular metastases develop from distant primary locations, the most prevalent of which are the lung, prostate, and gastrointestinal tract.2 Testicular metastases can occur in up to 4% of all prostate cancer cases and are frequently discovered by chance following orchiectomy therapy for advanced disease.4 In general, advanced prostate cancer metastases to the pelvic lymph nodes, bones, lungs, and liver are common; however, few of these patients have clinically evident testicular metastasis.4,5 Secondary neoplasms of the testis are uncommon, with a reported rate of 0.02-2.5%, except leukemia and lymphoma infiltration.2,3 The prostate is the most common site of testicular metastases (15%), followed by the lung, melanomas, skin, colon, and kidney.1,2 However, most testicular metastases of prostate cancer were discovered after examining a significant number of testes from patients who had tumors removed during therapeutic orchiectomies.2,4 Lung cancer (43%), malignant melanoma (20%), pancreatic cancer (10%), and prostate cancer (10%) are among cancers that can spread to the testes.4,5 However, the great majority of metastases are lesions detected by chance following an autopsy or bilateral orchiectomy for Prostatic Cancer hormonal treatment.3 A testicular tumor revealing clinical recurrence is highly unusual. Bubendorf et al.1 discovered testicular metastases in just 0.5% of 1,589 prostate carcinoma autopsy reports. He also suggests a backward metastatic channel through prostate veins in addition to the typical hematogenous tumor spread via the vena cava. Overall, four routes have been hypothesized for the propagation of the lesions to the testis: retrograde venous extension, retrograde lymphatic extension, arterial embolism, and through the lumen of the vas deferens.1 Patients with symptomatic isolated post-prostatectomy testicular metastases can live for a surprisingly long time after orchidectomy without further development. This phenomenon may be linked to cytoreduction.1,2 The ability to manage the malignant process locally is an undeniable clinical benefit for patients undergoing orchiectomy. Given that this method of treatment is easy, safe, and associated with few problems, all patients with isolated prostatic cancer testicular metastases should be considered candidates for metastasectomy.4,5 The histological features of prostate cancer testicular metastases are similar to those of original prostate tumors; however, histology may show a more aggressive phenotype with a significant probability of future disease spreading and, thus, worse survival.3,4 Weitzner4 found that patients with newly diagnosed testicular metastases from prostate cancer had a median survival of roughly 12 months.1,2 Other studies, on the other hand, have documented survival of more than two years without biochemical relapses. As a result, the predictive impact of testicular metastases from prostate cancer is yet unknown, owing to the rarity of the incidence.2 Testicular metastasis from prostate carcinoma is an uncommon manifestation of advanced disease.2 It often presents with testicular pain, swelling, or a palpable mass and can mimic primary testicular neoplasms. Clinicians should maintain a high index of suspicion, especially in patients with a history of prostate carcinoma. Prompt diagnosis through imaging studies and histopathological confirmation is essential for appropriate management and prognosis.3,4 This case underscores the importance of considering testicular metastasis in the differential diagnosis of testicular masses, particularly in patients with a history of prostate carcinoma. A multidisciplinary approach is crucial for optimal management and improving patient outcomes. Early recognition and timely intervention are paramount in managing metastatic disease and improving quality of life. Figure 1 refers to a 59-year-old male patient presented to our hospital with an elevated serum prostate-specific antigen (PSA) level of >100 ng/ml. He had been on regular follow-up with urology for surveillance of prostate cancer recurrence. He had undergone a radical prostatectomy two years ago with Gleason grade group 5. Scrotal ultrasound showed a hypoechoic mass involving the right testicle with increased vascularity, suggesting a neoplastic lesion. Hence, the patient was planned for a bilateral orchidectomy. The patient underwent bilateral inguinal orchiectomy without any complications. Macroscopic examination of the right resected testis revealed a solid yellowish-white tumor of 0.5 × 0.5 cm. Histopathological analysis showed that the right testis was infiltrated by metastatic adenocarcinoma. Immunohistochemical examination revealed that tumor cells were diffusely positive for PSA and Alpha (α)-methylacyl-CoA racemase (AMACR). The patient was diagnosed with right testicular metastasis of Prostatic Carcinoma. The patient had an uneventful postoperative recovery. The patient was scheduled for regular follow-up appointments to monitor disease progression. Serial PSA levels and imaging studies were planned to look for disease status. Figure 1 A – Gross view of the right orchidectomy showing a small nodular metastatic deposit in tunica albuginea from the prostate cancer; B, C and D are photomicrographs of the tumor and testicle parenchyma; B – shows normal testicular seminiferous tubules along with presence of metastatic tumor deposit in the wall of testis (Tunica albuginea) (H&E x100); C – These tumor cells are immunopositive for prostate specific antigen (PSA 40X); D – The tumor cells are also positive for Alpha-methylacyl-CoA racemase (AMACR 200X).:
Parathyroid cyst (PC) is an uncommon cause of neck mass and accounts for 0.8- 3.41% of parathyroid lesions. Females are more commonly affected than males (F:M- 2.5:1).1 Nearly 90% of PCs are non-functional, while the remaining are functional and secrete parathormone. Although functional PCs usually manifest cystic degeneration of a parathyroid adenoma, simple functional cysts of the parathyroid gland presenting features of hyperparathyroidism have also been documented.2 PC mainly develops in the inferior parathyroid glands, like the index case. The presentation may vary from asymptomatic neck mass to compressive symptoms such as hoarseness, dysphagia, or dyspnea. On examination, they are palpable as a soft, fluctuant cystic mass that moves with deglutition. Ultrasonogram usually reveals an anechoic thin-walled cyst with posterior enhancement, and computed tomography and magnetic resonance imaging demonstrate the cystic nature of the lesion and its anatomical relationship. Scintigraphy may not help determine the exact location of the cyst. Histopathological examination remains the gold standard for the diagnosis. The best treatment option for both functional and non-functional PC is surgical excision. Other options, such as simple aspiration and percutaneous injection of sclerosing agents, may also be attempted in cases of non-functional PC.3 Figure 1 refers to the case of a 24-year-old young female who presented with an asymptomatic neck swelling that progressively increased over the last 4 months. There were no complaints of dyspnea, dysphagia, palpitation, or symptoms of hypothyroidism. On clinical examination, a 5×4 cm swelling was palpable in the left anterior aspect of the neck. It was smooth with regular, well-defined margins, firm, and non-tender, moving with the deglutition but not with tongue protrusion. No lymphadenopathy was present. Lab investigations revealed normal thyroid hormone profile; triiodothyronine (T3: 0.82 ng/ml; RR: 0.35- 1.93 ng/ml), thyroxine (T4: 9 µg/dl; RR: 4.87-11.729 µg/dl), thyroid stimulating hormone (TSH:1.53 µIU/ml; RR:0.35-4.94 µIU/ml) and parathyroid hormone (PTH: 46.4 pg/ml; RR: 15-65 pg/ml). Contrast-enhancing computed tomography revealed a hypodense, well-defined cystic lesion of 72x46x40 mm on the left side of the thyroid with extra-thyroid extension inferiorly up to the manubrium sternum (Figure 1A). There was no internal calcification or solid component within the cyst. In addition, multiple sub-centimetric cervical lymph nodes in the upper, lower, mid-jugular region and posterior triangle of the neck were identified. Based on the clinical and imaging findings, a benign thyroid cyst was suspected in a euthyroid individual. The cyst’s fine needle aspiration cytology (FNAC) yielded 5 mL of clear fluid containing cholesterol crystals and occasional foamy macrophages in a fluidy background. A complete surgical excision was performed. Intraoperatively, a large cyst was identified arising from the lower pole of the left lobe of the thyroid, extending inferiorly up to the manubrium sternum, laterally up to the common carotid artery, and superiorly up to the hyoid bone. Grossly, the cyst was collapsed, was thin-walled, and had smooth outer and inner surfaces. No attached thyroid gland was identified. The wall showed uniform thickness (0.1-0.3cm). The capsular surface was smooth, and the cyst contained a brownish fluid. Microscopically, the cyst was lined by flat cuboidal to low columnar epithelium. The cyst wall showed discontinuous bands of parathyroid tissue embedded within the fibroconnective tissue (Figure 1B). These cellular foci were composed of lobules and organoid nests of monomorphic cells with central round nuclei, granular chromatin, inconspicuous nucleoli, and clear to pale eosinophilic cytoplasm (Figure 1C). No solid areas or features of adenoma were seen. On immunohistochemistry, these cells were positive for parafibromin (diffuse strong nuclear) (Figure 1D) and synaptophysin (diffuse strong cytoplasmic granular) and were negative for TTF-1, thyroglobulin, and calcitonin, confirming the diagnosis of PC. The right inferior parathyroid was normal. Figure 1 A – CECT image showing hypodense cystic lesion in the left side of neck with extra thyroid extension inferiorly up to the manubrium sternum; B-D – Photomicrographs of the cystic lesion; B – Cyst showing lobules of cells embedded within the collagenous wall underneath the lining epithelium (H&E; 40X); C – Flat cuboidal lining epithelium and aggregates of monomorphic parathyroid cells with optically clear cytoplasm in the cyst wall (H&E; 400X); D – Strong nuclear positivity for Parafibromin immunostain (200X).:
