Paragangliomas are rare neuroendocrine tumors that arise from extra-adrenal chromaffin cells. While their occurrence in the urogenital tract is itself uncommon, involvement of the spermatic cord is exceptionally rare. Because of their nonspecific clinical presentation, these tumors are often misdiagnosed as more common inguinoscrotal lesions. Herein, we present the case of a 13-year-old male patient who presented with a gradually enlarging, non-tender inguinal mass. The lesion was surgically excised, and histopathological examination revealed a well-circumscribed tumor composed of polygonal cells arranged in the characteristic Zellballen pattern, showing minimal nuclear atypia and low mitotic activity. Immunohistochemistry confirmed the diagnosis, with the tumor demonstrating diffuse positivity for synaptophysin and chromogranin A. The postoperative course was uneventful, and the patient remains disease-free at three years of follow-up. This case is particularly noteworthy given its occurrence in the pediatric age group and adds to the very few reported cases of spermatic cord paraganglioma in the literature. It highlights the importance of including this rare entity in the differential diagnosis of inguinoscrotal masses and reinforces the need for histopathological and immunohistochemical evaluation for definitive diagnosis. Given the potential for malignant behavior, complete surgical excision with long-term surveillance remains essential.

Introduction Gastrointestinal stromal tumors (GISTs) represent the most common mesenchymal neoplasms of the gastrointestinal tract, typically originating from the interstitial cells of Cajal. Accurate histopathological assessment and immunohistochemical profiling are pivotal for diagnosis and risk stratification. This study aimed to evaluate the clinicopathological characteristics and immunohistochemical expression patterns of GISTs diagnosed at a tertiary care center. Methods A retrospective analysis was conducted on 30 histologically confirmed cases of GIST over a seven-year period. Formalin-fixed, paraffin-embedded tissue samples were reviewed using hematoxylin and eosin staining and subjected to immunohistochemistry. Parameters assessed included patient demographics, tumor location, histological subtype, mitotic index, and immunoreactivity for CD117, DOG1, and CD34. Results The cohort comprised 19 men and 11 women, with a mean age of 62.1 years. The small intestine had the most number of cases, i.e., eight cases (26%), followed by the stomach, which had seven cases (24%). Spindle cell morphology was predominant (86%), followed by epithelioid and mixed patterns (7% each). Most tumors were low-grade (60%), with a mitotic rate of <5 per 50 high-power fields. Immunohistochemically, DOG1 showed the highest positivity (97%), followed by CD117 (84%) and CD34 (70%). Smooth muscle actin (SMA), desmin, and S-100 showed variable positivity. Conclusion This study highlights a male predominance and a predilection for gastric and small intestinal involvement in GISTs. Spindle cell morphology and low mitotic activity were common histological features. Immunohistochemistry remains indispensable for diagnosis, with DOG1 demonstrating superior sensitivity. These findings reinforce the critical role of integrated histopathological and immunohistochemical evaluation in the accurate diagnosis and management of GISTs.

Xeroderma Pigmentosum is a rare autosomal recessive disorder, characterized by premature skin aging, pigmentary changes, photosensitivity and increased risk of developing skin malignancies. Here we present a case of identical twins with xeroderma pigmentosum who developed skin malignancies at an early age. The details of this case are presented.

Introduction Follicular dendritic cell sarcoma (FDCS) is a rare neoplasm of antigen-presenting cells within the reticuloendothelial system primarily originating in lymph nodes, but in almost one-third of the patients, extranodal sites are involved including oral cavity, tonsil, gastrointestinal tract, soft tissue, and breast. The thyroid gland is an extremely rare location for FDCS and very few cases are reported in the literature. Case Report Here, we present a 39-year-old man who presented with a swelling in the neck for 3 months and difficulty in breathing for 15 days. Following left hemi-thyroidectomy, histopathologically and immunohistologically, he was diagnosed as FDCS of thyroid arising in Castleman's disease. He received adjuvant radiation treatment. The patient had favorable prognosis with no evidence of disease for 6 years after treatment till date. Conclusion The aim of this report was to present the rare site of FDCS arising in the thyroid gland, the vital role of immunohistochemistry in diagnosis, and effectiveness of multimodality treatment for favorable prognosis.

Ewing’s sarcoma/primitive neuroectodermal tumour is a malignant small round blue cell tumour of neuroectodermal origin that affects bones and soft tissue in children and young adults. These are aggressive malignant tumours, and long-term survival rates following diagnosis remain poor. Occurrence of primitive neuroectodermal tumours in the head and neck region is uncommon. It is extremely rare in the larynx with only 12 cases reported in the literature. We report a case of primary primitive neuroectodermal tumour of the larynx in a 28-year-old female. She presented with hoarseness of voice, and her computed tomography and laryngoscopy revealed a mass at the laryngeal inlet. A biopsy followed by histopathology and immunohistochemistry confirmed the diagnosis of a primitive neuroectodermal tumour. She initially defaulted from treatment and subsequently presented with stridor for which an emergency tracheostomy was done. Her metastatic workup did not reveal any lesion elsewhere. So, a diagnosis of a primary primitive neuroectodermal tumour of the larynx was made, and the patient was started on treatment.

Malignant melanoma (MM) is predominantly seen in the skin, but it can also be seen in the eyes, ear, gastrointestinal tract, genital tract and mucous membrane of the oral cavity. MM of the ear accounts 1-4% of all cutaneous melanomas. In ear, pinna is the most common site. Primarily MM of the auditory canal is very rare. Here, we report a 70 year old male who presented with ear discharge, mass in ear and reduced hearing; was diagnosed as Malignant Melanoma of the external auditory canal. He underwent surgery followed by adjuvant chemoradiation. At present, the patient is doing well and on follow up. The aim of this report is to put forward the rare site of malignant melanoma and highlight the importance of early diagnosis in suspected cases with Immunohistochemistry (IHC), providing effective multimodality treatment.

ABSTRACT Prostate adenocarcinoma (PC) is commonly known to have bone metastasis but its orbital metastasis is rare accounting for only 8.5% of cases. Most of the reported cases of orbital metastasis are in previously diagnosed PC cases. However, orbital metastasis as a sole manifestation of presentation is extremely rare, and to our knowledge, only three cases have been published similar to our present case. A 72-year-old male presented with diplopia and pain in the right eye for six months. On examination, right eye proptosis was noted. A computed tomography (CT) scan showed an enhancing, destructive soft tissue lesion involving the right orbit. The histopathological evaluation revealed a metastatic adenocarcinoma possibly of prostatic origin. Immunohistochemistry (IHC) confirmed the above diagnosis. We report this unique case of metastatic PC presenting with only ocular manifestation, emphasizing the crucial role played by diagnostic modalities like histopathology and IHC in unraveling such occult dilemmatic scenarios.

Adipocyte is a predominant component of the omental adipose tissue that influences the tumor microenvironment and increases the risk of endometrial cancer progression (EC), however, little is known about the underlying mechanism. In this study, using a co-culture model, we found that the adipocyte-EC cell interaction promoted SIRT1 signaling in vitro and in vivo xenograft mice models. Furthermore, immunostaining of SIRT1 protein showed significantly higher expression of SIRT1 in endometrial cancer patients than in normal endometria. RNA sequencing analysis revealed HMMR (hyaluronan-mediated motility receptor), an oncogene, as a downstream effector of SIRT1 in adipocyte-associated EC. Transient knockdown and chromatin immunoprecipitation assays showed that SIRT1 inhibition impedes transcription of the HMMR gene via FOXM1, and reduced expression of HMMR in co-cultured EC cells blocks AURKA activation via TPX2, leading to cell cycle arrest. This is the first study to report the positive correlation between SIRT1 and HMMR in EC patient tumors and might be used as a potential biomarker in EC. Notably, SIRT1 regulates HMMR expression in a FOXM1-dependent manner, and interfering with SIRT1 may provide a promising strategy for the management of endometrial cancer.

Xp11 translocation renal cell carcinoma (XPTRCC) is a very rare kidney neoplasm, which has been predominantly reported in young patients. Sarcomatoid transformation in renal cell carcinomas is known. However, its occurrence in XPTRCC is unreported so far in the literature. We report a unique case of sarcomatoid transformation in a XPTRCC in a 23-year-old female, who presented with a huge right-sided renal mass and had metastatic deposits in lungs. Morphologically, clear cell morphology with papillary architecture along with foci of sarcomatoid transformation and rhabdoid differentiation were noted. Immunohistochemistry showed Pax-8 and TFE-3 expression in all components including the sarcomatous areas, whereas CK and EMA were expressed in conventional clear cell component. We present an extremely rare case of sarcomatous transformation in XPTRCC and discuss the case as determined by histopathology and immunocytochemistry. To our knowledge, this is the first case of sarcomatoid transformation XPTRCC being reported in the world literature.

Solitary fibrous tumor (SFT) is a rare mesenchymal tumor of fibroblastic origin commonly occurring in pleura. It can occur at many extrapleural sites but is rare in orbit. Most cases are benign and recurrence is not unusual in the head and neck and orbit and is usually due to incomplete surgical excision. However, malignant transformation (MT) in orbital SFT is extremely unusual. We present a case of orbital SFT in adult male who developed recurrence with MT eight years after initial surgical excision. He underwent left orbital exenteration. The recurrent tumor revealed features of malignancy with areas exhibiting morphology typical of SFT. The immunochemistry confirmed the diagnosis of SFT with MT. The patient was given adjuvant radiation and was disease free for the last 18 months. Identification of malignancy in orbital SFT is important for the patient to receive appropriate postoperative treatment, as seen in the present case.

Abstract Histoplasmosis is a rare type of fungal infection which may manifest as a respiratory disease or as a disseminated infection. It is common in immunocompromised patients and, in recent times, seen in association with COVID-19. On histopathological examination, many intracellular and extracellular yeast forms are seen, which can be confirmed by fungal stains. Histoplasmosis involving the nasopharyngeal region is quite rare. Till date, only less than 100 cases of pharyngo-laryngeal histoplasmosis have been reported. Such cases are clinico-radiologically easily and frequently mistaken for malignancy. Here, we report a case that initially had COVID-19-like symptoms and later presented with a nasopharyngeal mass clinico-radiologically mistaken as a nasopharyngeal malignancy. The diagnosis was established on histopathological examination and the patient recovered completely with anti-fungal treatment. A high grade of suspicion and thorough histopathological examination, especially in immunocompromised patients, complimented by fungal special stains is quite rewarding as even a disseminated disease is curable.

Abstract Squamous cell carcinoma (SCC) has several variants based on its histopathological features. Nuclear protein in testis (NUT) carcinoma (NC) is a rare and aggressive variant of SCC, previously described exclusively in midline sites. The histopathological features of NC are similar to poorly differentiated carcinoma or undifferentiated carcinoma. Abrupt keratinization in an otherwise undifferentiated carcinoma is an important diagnostic clue. The confirmatory diagnosis is dependent on molecular techniques such as Immunohistochemistry, Fluorescent in situ hybridization technique or RT-PCR to detect mutations in NUT gene. It is most commonly found in middle aged, in lungs and head and neck regions. Since NC features overlap with poorly differentiated and undifferentiated carcinomas, these cases need to be suspected and evaluated for NUT gene mutations thoroughly. Due to their rarity and less known facts, NC cases are required to be reported on large scale. Here, we report a middle-aged woman with a mass on the forehead diagnosed as NC based on molecular evaluation, with a review of the literature emphasizing the rarity of NUT carcinoma and the importance of careful histopathology as well as immunohistochemistry evaluation.

Abstract Synovial sarcoma is a rare and high-grade soft tissue tumour that rarely affects the head and neck region. Approximately 90% of synovial sarcomas are seen in the extremities. About 5 to 10% occur in the head and neck region with high incidences in the parapharyngeal space and hypopharynx. In the oral cavity, synovial sarcoma has been reported in the buccal mucosa, tongue, floor of the mouth, the retromolar region, hard and soft palates, the gingivobuccal sulcus and the mandible. In this paper, we report 4 very rare cases of monophasic synovial sarcoma of the oral cavity and highlight the need for proper diagnosis and treatment plan in the cases of synovial sarcoma. So far, around 250 cases of synovial sarcoma of head and neck have been reported in the literature. In India, on extensive literature search we could retrieve 18 cases of synovial sarcoma involving the head and neck region, of these 11 cases of primary synovial sarcoma involving the oral cavity have been reported previously. To our knowledge, this is the first series of primary synovial sarcoma of the oral cavity in the Indian literature.

A BSTRACT Intussusception is a pediatric condition that is rare in adults. It is usually associated with lead points affecting the intestine. Lipomas are very rare benign tumors which may act as lead points for intestinal intussusception. Indeed, the incidence of intestinal intussusception caused by lipomas is very rare. Our patient is a 38-year-old female, previously healthy and admitted for colicky right lower quadrant abdominal pain of 2-day duration. Computed tomography (CT) scan of the abdomen and pelvis showed a prominent “target sign” in the right lower abdomen which was suggestive of long segment ileocolic intussusception. Urgent laparotomy opted for ileocolic intussusception and right hemicolectomy with end-to-side isoperistaltic ileocolic anastomosis was performed. The pathology report showed that intussusception was induced by a colon lipoma. Thus, ileocolic intussusception caused by lipoma should be considered in the differential when diagnosing adults with right lower quadrant pain.

Dermatofibrosarcoma protuberans (DFSP) is an unusual tumour of soft tissue with local invasive property with high rate of recurrence after surgical treatment. DFSP is frequently seen on the trunk and proximal extremities, although a 10-15% cases accounts in head and neck region. Mainstay for success of surgery in DFSP remains complete removal of tumour with adequate surgical margins of approximately 3cms. In head neck region challenges associated with surgery may be inadequate surgical margins, poor functional and cosmetic outcomes. We present a case of a 35 years old male reported to our hospital with complaint of rapidly growing mass over right cheek and retroauricular region causing facial deformity. Incisional biopsy diagnosis was made DFSP. The patient underwent wide local excision of tumour followed by adjuvant radiotherapy. Final histopatholgy showed fibrosarcomatous transformation of DFSP. After 24 months of post-op follow up, patient recovery was satisfactory without any signs of recurrence. This case is presented for its rarity and it highlights the need for proper diagnosis and treatment plan.

Angiomyolipoma (AML) is a rare benign mesenchymal neoplasm composed of a variable mixture of smooth muscle cells, adipose tissue and anomalous blood vessels. It belongs to the family of perivascular epithelioid cell tumors (PEComas). It is quite common in kidney but is rare at the extrarenal sites. In the uterus, only a few cases have been reported. We describe a case of uterine AML without evidence of tuberous sclerosis (TS). It was clinicoradiologically mistaken for fibroid. The clinical presentation of uterine AML is similar to more common uterine leiomyomas. AML can be suspected on the imaging but histopathology establishes a confirmed diagnosis. The case is presented for its rarity and likelihood of mistaking it for some other mesenchymal tumors. Overall, just 36 cases of Uterine AML have been reported in the English literature prior to this and this is only the second Indian case.

Epithelioid sarcoma (ES) is a malignant mesenchymal neoplasm that exhibits epithelioid cytomorphology and a predominantly epithelial phenotype. The principal types based on histopathological features and location; include the classic or conventional type (CES) and the proximal type (PES). The aim of the study was to analyze our cases of ES regarding clinical, pathological and immunohistochemical features.This is a retrospective study. Seven cases of ES were included in the study. Clinical and pathological details were retrieved from patient records. Details like site, size, histopathological type and IHC features of the tumors were studied. Out of seven, five were PES and two were CES. There were six males and one female; with age ranging from 12 to 68 years. Total five tumors involved extremities. One was noted at a rare site, paratesticular region. Three tumors were larger than 5 cm in greatest dimension. On immunohistochemistry (IHC), all the tumors were reactive for CK, EMA, Vimentin, Ca 125 and showed loss of nuclear expression of INI1. CD 34 was expressed in 6 out of 7 cases.ES is a rare aggressive malignant tumor with dismal prognosis. It is often misdiagnosed because of nonspecific clinical features at presentation. Helpful clues in diagnosis are tumors in young males with epithelioid and/or spindle cell morphology, Rhabdoid cells and granuloma like central necrosis. Co-expression of epithelial and mesenchymal markers along with reactivity for CD34 and Ca 125 and loss on INI1 expression on IHC substantiate the diagnosis of ES.

Osseous choristoma is the formation of normal mature bone at an abnormal position. These are rare benign tumor-like growth usually asymptomatic except growth or swelling as the clinical presentation. In oral cavity, osseous choristoma is rare and commonly found in posterior third of the tongue. Clinically it is misdiagnosed as malignancy because of its hardness. Clinically, it is also mistaken for other oral cavity lesions, especially those of minor salivary gland lesions of oral cavity. Hence, awareness amongst clinicians, general practitioners and oral pathologists about oral osseous choristomas is necessary. Here, we report two cases of osseous choristoma in the oral cavity located at sites other than tongue.

Nasopalatine cysts are the nonodontogenic developmental cysts. These are most frequently occurring asymptomatic cysts in the oral cavity and are commonly observed as a swelling in the anterior maxillary region. Nasopalatine duct cyst presents in the fourth to sixth decades of life with a male predilection. The main aim of this case study is to review the prevalence, epidemiology, and clinical presentation, to describe the radiographic and pathological findings, and to discuss surgical management of this entity in an 11-year-old female patient.

Papillary thyroid carcinoma (PTC) is the most common type of thyroid carcinoma that carries a favourable prognosis. However, a small subset unfortunately shows transformation to least differentiated anaplastic carcinoma (AC) having a highly aggressive behavior. This process usually occurs within thyroid but is rare in metastatic cervical lymph node or soft tissue neck and exceedingly rare at distant sites. We report a unique case of a 75 years female who presented with anaplastic carcinoma in metastatic neck deposit with occult papillary thyroid carcinoma. To the best of our knowledge, this is the first case in the world literature having anaplastic transformation (AT) in the metastatic neck deposit, right at the presentation with a totally unnoticed PTC clinically. We present this case to emphasize that the transformation process can occur even when the differentiated malignancy in thyroid is small, insignificant or hidden and that metastasis solely can be the presenting feature which can be misleading clinically and even histopathologically. As AC is very aggressive, there is need for early and precise diagnosis & prompt therapeutic intervention.