Mucinous carcinoma of breast is a rare variant of invasive breast carcinoma and usually affects older females and is associated with good prognosis. Human epidermal growth factor receptor 2 (HER2) positivity in these tumors is rare. We describe here a case of advanced stage HER2 + mucinous carcinoma with micropapillary features who underwent complete remission on treatment with radiation therapy and hormonal therapy and presented after eight years with invasive duct carcinoma in the contralateral breast.
SMARCA4-deficient thoracic tumor (SMARCA4-DTT) is a relatively new pathological entity with highly aggressive characteristics. With mass lesions developing in the thoracic region, patients tend to complain of chest symptoms, such as dyspnea or chest pain. Here, we encountered a rare case of SMARCA4-DTT presenting to the otolaryngology clinic with painful throat and diagnosed by palatal tonsil biopsy. A 47-year-old male patient with heavy smoking habit presented to a nearby clinic due to sore throat occurring a few days before presentation. Antibiotic therapy was prescribed for the treatment of acute tonsillitis. However, the pain exacerbated, and mass lesion in the submandibular region started to develop. The patient was referred to our department for detailed examination due to suspected pharyngeal malignancy. Right tonsil biopsy was performed, and the patient was diagnosed with SMARCA4-deficient tumor. Computed tomography illustrated compressive mass lesion in the mediastinum and multiple swelling of systemic lymph nodes. Although radiotherapy and chemotherapy were performed, the lesion rapidly progressed, and brain metastasis also occurred. The patient followed a poor disease course and died 91 days after the first symptom. SMARCA4-deficient tumor has been reported in other sites, such as ovary, uterus, and gastrointestinal tract. The purpose of the present article is to make literature review on clinicopathological characteristics of SMARCA4-deficient tumors in various sites while reporting the rare presentation of SMARCA4-DTT.
To date, reported cases of ectopic prostatic tissue occurring in the genitourinary tract, particularly in the anterior urethra, are exceedingly rare. We report a case of a 20-year-old man who is presented with cystic lesion on the anterior (penile) urethra. Routine investigation shows a micro-cystic submucous mass, near to the external orifice of the urethra. The performed surgical excision and histological investigation confirm that the lesion is a prostatic tissue ectopy. Histologically and immunohistochemically, the cyst wall is lined with prostatic-type benign epithelium. In addition, interspersed foci of eosinophilic metaplasia (EM) are found among the prostatic epithelium. The subsequent targeted histochemical, immunohistochemical, and ultrastructural study confirm the presence of EM in the ectopic prostatic tissue. This is the first case that presents EM occurring in ectopic prostatic tissue. The presence of EM can be used as an additional argument supporting the prostatic origin and the benign character of the lesion. The histogenesis of the ectopic prostatic tissue in the urethra is discussed. We suggest that it is most likely a hyperplastic epithelial response of embryonic prostatic nests in the urethra.
The relationship of Epstein-Barr virus (EBV) has been well characterized with a wide range of lymphoproliferative lesions and lymphomas of B-cell, T-cell, and NK-cell origin. However, the association of EBV with mantle cell lymphoma (MCL) is exceedingly rare and not well established. We report a case of classic MCL which transformed to pleomorphic MCL after a clinical course of 19 years. Particularly, EBV infection was detected in the transformed high-grade pleomorphic MCL. Molecular and genetic analyses confirmed the clonal relationship between the original and transformed lymphomas. To the best of our knowledge, there has only been one case reported in 2003 which documented an EBV-associated high-grade transformation of MCL. Therefore, our case report further expanded the spectrum of EBV in the pathogenesis of B-cell lymphoma transformation.
Cutaneous T-cell lymphoma (CTCL) presenting as mycosis fungoides is typically localized to the skin and occasional draining lymph nodes. We present a 46-year-old man with refractory CTCL status-post allogeneic stem cell transplant who was biopsied for diarrhea and abdominal pain. These gastrointestinal biopsies revealed not only graft-versus-host-disease but also a clonal atypical lymphoid infiltrate with the same morphology and immunophenotype as the patient’s known CTCL. We discuss the differential diagnosis of CTCL metastatic to the intestinal mucosa versus post-transplant lymphoproliferative disorder and present a review of the literature. This case demonstrates challenging diagnostic workups in limited tissue samples as well as critical clinical implications.
Background: Since the first report in 2008 of cases of anaplastic lymphoma kinase (ALK)-positive histiocytosis, originally described as a systemic, self-limiting disease in infants, the range of ALK-positive histiocytosis has been expanded to include localized diseases in older children and adults. Case presentation: We present the case of an 18-year-old woman with a periumbilical painless mass for 5 months who underwent resection of the mass. Pathological examination showed that the tumour consisted predominantly of fascicular to storiform growth of nonatypical spindle cells admixed with lymphocytic infiltrates. The tumour spindle cells were diffusely positive for CD68, CD163 and ALK. Further molecular tests revealed an ALK gene fusion with Kinesin Family Member 5B (KIF5B) (E24)-ALK (E20), confirming ALK-positive histiocytosis. Follow-up at one and a half years after resection showed no tumour recurrence. Conclusion: Remission of ALK-positive histiocytosis in local lesions can be achieved by complete resection, and clinical follow-up shows a favourable prognosis.
Here we present a case of a 75-year-old man with an incidentally discovered anterior mediastinal mass, which on resection showed histologic features of both type A and micronodular thymoma with lymphoid stroma (MNT). MNT is a rare variant of thymoma with a characteristic appearance of distinct nodules of epithelial cells with few interspersed lymphocytes surrounded by abundant lymphoid stroma that lacks epithelial cells. We discuss features of this tumor and compare similar cases reported in the literature.
Sarcina Ventriculi is a gram-positive organism, rarely encountered as a human pathogen. It has been described in stomach specimens, often in patients with delayed gastric emptying. The exact role of this organism in human disease is not clear. In this case report, we describe a case of Sarcina organism associated with gastric ulceration. This organism is likely underreported and often overlooked, as it may not be obvious on routine staining. Awareness of this organism and further studies are needed to understand its role in human disease.
Fibrin- associated diffuse large B cell lymphoma (FA-DLBCL) is a rare entity, often incidental finding, categorized under "diffuse large B cell lymphoma associated with chronic inflammation (DLBCL-CI)" in 2017 World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues. Here we report a 48-year-old male with FA-DLBCL who experienced recurrence within one year from initial presentation. The patient had a history of an abdominal aortic aneurism and underwent an endovascular aneurysm repair (EVAR) in 2013. Later in 2019, he was found by CT aortogram to have endoleak of the aneurysm repair. He underwent an open abdominal aortic aneurysm repair with explant of the endovascular stent. The explanted graft was sent to pathology and was found on gross examination to have ample adherent tissue. On microscopic examination this tissue was composed of abundant fibrinous material with several foci of large pleomorphic lymphocytes with enlarged round to polyhedral nuclei, prominent nucleoli, open chromatin, and scanty cytoplasm. Necrosis was also seen in a largest focus of tumor infiltrate. By immunohistochemistry, the atypical, large lymphocytes expressed CD20 and MUM-1; and positive for EBV, by Epstein-Barr virus (EBV) in situ hybridization (EBER-ISH). Together, the diagnosis for FA-DLBCL was made. Further work up by PET scan showed no active disease. The patient re-presented 10 months later with right lower extremity ischemia due to the vascular graft thrombosis. The thrombectomy specimen showed identical findings of his initial FA- DLBCL. Here we discuss the clinicopathologic findings of this entity and the importance of clinical follow up.
•Renal EWS is rare, with aggressive clinical progression, early metastasis and poor prognosis.•Combination of histological and immunohistochemical evaluation is important for the diagnosis.•Renal mass with vessel and/or spinal invasion should raise suspicion for renal EWS.
•Sclerosing mucoepidermoid carcinoma with eosinophilia (SMCE) is a rare.•SMCE is an under-recognized subgroup of mucoepidermoid carcinoma.•SMCE is characterized by dense sclerotic stroma with marked eosinophil infiltration.•Here are added two cases with no clear split signals confirmed in FISH for MAML2.•SMCE is possibly unique in histogenesis as well as genetic backgrounds.
Background: Childhood rhabdomyosarcoma (RMS) of perineal or perianal origin (PRMS) is rare, accounting for only 2% of all RMSs. PRMS has been reported to show different characteristics depending on the patient’s age, and patients aged 10 years or older have a poor prognosis. Disseminated intravascular coagulation (DIC) is considered to be an uncommon complication of RMS. However, it could occur occasionally in patients with widespread RMS with bone marrow infiltration. Pulmonary lymphangitic sarcomatosis (PLS) has been reported to be rare, and to our knowledge, only 18 cases (including 4 patients with RMS) have been reported to date. Case report: A 15-year-old female patient with suspected RMS was admitted to our hospital. The patient was diagnosed with PRMS following radiological evaluations and effusion cytology, and chemotherapy was initiated on the 6th day of admission. During the course, the patient suffered from severe dyspnea and DIC. Despite treatment, the bleeding tendency did not improve, and hepatic and renal failure progressed. The patient died of progressive respiratory failure on the 13th day of admission. An autopsy, performed 2 h after death, revealed a perianal tumor with pseudoalveolar growth pattern. In the lungs, a relatively large number of small metastatic foci, presumed to be lymphatic spread, were identified. It was diagnosed as PLS due to alveolar RMS. Conclusion: Although PLS is reported to be an unexpected form of metastasis, it might cause severe dyspnea in patients with RMS, as 4 of 18 reported cases of PLS are associated with RMS.
Approximately 24 cases of cytokeratin-positive interstitial reticulum cell tumors have been reported in English literature. In this paper, we report a case of cytokeratin-positive interstitial reticulum cell tumor that was localized in the parafollicular region of the axillary lymph node and was an incidental finding in a patient with breast cancer. A 50 year-old woman underwent a mastectomy and lymph node dissection following a preoperative diagnosis of bilateral breast cancer. Histopathological examination revealed that the patient had non-invasive and invasive ductal carcinoma in the right and left mammary glands. Although we could not detect breast cancer metastasis in the lymph nodes, one of eight right axillary lymph nodes harbored an 11 × 8 mm discohesive sheet of large polygonal epithelioid tumor cells in the parafollicular area. Tumor cells were immunoreactive for AE1/AE3, CAM5.2, CK18 and l-caldesmon and negative for CD1a, CD21, CD23, CD31, CD68, and S‑100 protein markers. Based on these findings, the lesion was diagnosed as a cytokeratin-positive interstitial reticulum cell tumor of the lymph node. Notably, this early-stage cytokeratin-positive interstitial reticulum cell tumor demonstrated focal nuclear YAP/TAZ proto-oncogene products, which were recently identified as critical for differentiation, maturation, and function of fibroblastic reticular cells. To the best of our knowledge, this is the first report to describe nuclear YAP/TAZ immunoreactivity in cytokeratin-positive interstitial reticulum cell tumors.
Large cell neuroendocrine carcinoma (LCNEC) of the ureter is an extremely rare entity. Herein, we present a case of primary LCNEC of the distal ureter in an 80-year-old male with a history of intermittent hematuria and a mass in the right distal ureter on computed tomography of the abdomen and pelvis. The patient subsequently underwent surgery followed by adjuvant chemotherapy. Histology and immunohistochemistry were in accordance with LCNEC.
Solitary fibrous tumor (SFT) is a rare mesenchymal tumor, which can be seen in varied anatomic locations, most commonly arising in the lung/pleura. SFTs of the gastrointestinal tract are exceedingly rare. Herein we report a case of SFT presenting as a 35 mm polyp in the descending colon, arising from the submucosa, that was found during routine screening colonoscopy in a 66 year old male. This was clinically felt to be a lipomatous lesion. Histologic sections demonstrated a spindle cell lesion with haphazard/patternless architecture, hyalinized collagen, and dilated, ectatic, irregularly shaped “staghorn” vessels. Mitoses were infrequent. Immmunostains demonstrated the neoplastic cells were positive for CD34 and STAT6; while they were negative for c-Kit, DOG1, SMA, and S100, confirming the diagnosis of SFT. The patient was disease free following the procedure. To our knowledge, this is only the second reported case of SFT presenting as a polyp, arising from the submucosal layer of the colon.
Sarcoidosis is a systemic idiopathic granulomatous disease that most commonly presents with lungs and hilar lymph node involvement. Clinical manifestation with acute ischemic stroke, with central neurological and cardiac involvement is extremely rare. Herein we report the case of a 60-year-old African American woman with history of chronic heart failure and pacemaker implantation, who presented with acute ischemic stroke, and died within 34 h of hospitalization. On autopsy, well-formed non-caseating granulomas were present in the myocardium, adventitia of the left main coronary artery, all lobes of bilateral lungs, pleura, liver, and spleen. The brain also showed granulomas, with predominantly leptomeningeal and focal parenchymal involvement of the central basal brain tissue (hypothalamic region), but without vascular wall involvement. Granulomas were also present within the thyroid as well as an incidental finding of a Hürthle-cell adenoma (HCA). We believe that left internal carotid artery and left middle cerebral artery obstruction, possibly thromoboembolic from the heart, was the cause of acute regional brain ischemia. This rare case illustrates the importance of the autopsy in the diagnosis of unexpected medical conditions; and also that sarcoidosis may play an etiologic role in acute ischemic stroke.
Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a newly accepted entity that belongs to the group of low-grade adipocytic neoplasms. ASPLT commonly manifests a soft tissue mass in both upper and lower extremities but is extremely rare in the gastrointestinal tract. Here we report a case of a gastric ASPLT in a 59-year-old male, who presented for the evaluation of new onset of dysphagia. To our best knowledge, this is the first case report of ASPLT in the upper gastrointestinal tract.
We report a case of high-grade endometrial stromal sarcoma originally assumed to be a benign leiomyoma, with BCOR internal tandem duplicates resulting in BCOR overexpression. A 34-year-old female presented to the gynecologic oncology service for recent miscarriage attributed to a large leiomyoma. She reported symptoms of vaginal bleeding and abdominal pain. Myomectomy and tissue analysis was performed which revealed BCOR internal tandem duplicates and cyclin D1 positive high grade endometrial sarcoma. Definitive treatment for the sarcoma was performed with pelvic washings, robotic assisted total laparoscopic hysterectomy with bilateral salpingo-oophorectomy, omentectomy, and pelvic lymph nodes dissection. Negative margins were obtained along with negative lymph node and omental sections. Her sarcoma was staged pT1b (FIGO 1B). At follow up, patient reported no symptoms and was informed no further treatment was indicated. It is rare for high grade endometrial stromal sarcoma (HG-ESS) to present in a 34-year-old woman, though BCOR internal tandem duplicate (ITD) high grade endometrial stromal sarcoma is more common in younger women. This patient also had a unique finding in the pathology report, positive progesterone receptor (PR) expression, making this an interesting but difficult diagnosis.
