Risk Stratification in Paragangliomas with PASS (Pheochromocytoma of the Adrenal Gland Scaled Score) and Immunohistochemical Markers.

INTRODUCTION: Paragangliomas (PGLs) are rare tumours that arise in sympathetic and parasympathetic paraganglia and are derived from neural crest cells. Presence of metastasis is the only absolute criterion for malignancy. There is no single histo-morphological feature indicating malignant potential and multiple parameters have been proposed to prognosticate the individual case. This includes studies conducted using Pheochromocytoma of the Adrenal Gland Scaled Score (PASS) and Immunohistochemical (IHC) markers. AIM: We have studied ten cases of paraganglioma and attempted to correlate the prognosis with multiple clinicopathological variables. MATERIALS AND METHODS: This study was done in a tertiary care general hospital over a period of five years. Available clinical records and histopathology slides of all patients were reviewed. Using Pheochromocytoma of the Adrenal Gland Scaled Score (PASS), we divided the cases into two groups-tumours showing high risk behaviour (PASS≥4) and tumours showing benign behaviour (PASS<4). IHC analysis was done using synaptophysin, chromogranin, S100 and Ki67. We correlated S100 immunoreactivity and Ki67 proliferative index with PASS score. Both PASS score and IHC markers were also correlated with clinical outcome. RESULTS: There were six Pheochromocytomas (PHC) and four Paragangliomas (PGL). Two paragangliomas were retroperitoneal and one each was located in ear (HNPGL) and broad ligament. PASS score was ≥4 in five cases and <4 in five cases. Out of five cases in which PASS was ≥4, three cases showed clinical evidence of malignancy and two cases were benign. All the cases in which PASS was <4 were clinically benign. S100 immunoreactivity was grade 1 in two cases, grade 2 in six cases and grade 3 in two cases. The cases in which S100 immunoreactivity was grade 1 were malignant. One case in which S100 was grade 2 was clinically malignant. Ki67 labeling index was raised (>3%) in two cases, which were malignant correlated with malignant PASS score. CONCLUSION: We conclude that the following clinicopathological parameters should be taken into account for risk assessment of malignant behaviour of paragangliomas- location, size, PASS score, S100 immunoreactivity and Ki67 labeling index.

Merkel cell carcinoma of the abdominal wall.

Merkel cell carcinoma also known as neuroendocrine carcinoma of the skin is a very rare skin tumor. It commonly presents in the old age and the common sites are head, neck and extremities. The diagnosis requires histopathological examination with immunohistochemical correlation. We report a case of Merkel cell carcinoma stage IIIB with bilateral inguinal lymphadenopathy that on FNAB showed metastatic deposits of the tumor.

Solitary cylindroma of tragus of the ear mimicking a keloid.

Cylindromas are very rare primitive sweat gland tumours differentiating towards eccrine or apocrine line. We present a case of cylindroma of tragus of external ear in a 50-year-old female. It was diagnosed clinically as keloid. After excision, histopathological and immunohistochemistry (IHC) studies confirmed diagnosis of solitary cylindroma.

A rare case of Mayer-Rokitansky-Kuster-Hauser syndrome with multiple leiomyomas in hypoplastic uterus.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in development of mullerian ducts. Women with this syndrome are characterized by the presence of 46 XX karyotype, normal female secondary sex characters, normal ovarian functions, and underdeveloped vagina. The presence of leiomyoma in MRKH syndrome is very rare, and only few cases have been reported in the literature. Here, we report a case of MRKH syndrome with multiple leiomyomas originating from the rudimentary horn of uterus in 25 years married, phenotypically female patient.

A rare case of apocrine carcinoma of the breast: Cytopathological and immunohistopathological study.

Invasive apocrine carcinomas of the breast are rare. Fine needle aspiration cytology (FNAC) has been increasingly used as a primary screening tool for breast lumps, with high level of sensitivity and specificity. Preoperatively, apocrine carcinoma needs to be distinguished from benign apocrine lesions and other eosinophilic and granular cell tumors. We report a rare case of invasive apocrine carcinoma in a 70-year-old female presenting with a breast lump and no axillary lymphadenopathy. FNAC was advised which yielded moderately cellular smears composed of loosely cohesive clusters of large, polygonal cells with centrally located pleomorphic, vesicular nucleus with prominent nucleoli and abundant, basophilic and granular cytoplasm. Based on above cytomorphological findings, diagnosis of apocrine carcinoma was offered. The patient then underwent right modified radical mastectomy with axillary clearance. Based on histomorphology and panel of immunohistochemical (IHC) markers the diagnosis was confirmed. Although apocrine/oncocytic cytomorphology is seen in few types of breast neoplasms, high index of suspicion and subsequent IHC study clinches the diagnosis.

Microfollicular adenoma of ectopic thyroid gland masquerading as salivary gland tumor - a diagnostic and therapeutic challenge: a case report.

INTRODUCTION: Ectopic thyroid tissue may appear in any location along the trajectory of the thyroglossal duct from the foramen cecum to the mediastinum. Rarely, there is incomplete descent of the gland where the final resting point may be high resulting in sublingual ectopic thyroid tissue. Ectopic thyroid tissue carries a low risk of malignancy. Most recently reported neoplasms in ectopic thyroid tissue have been papillary carcinoma of thyroid. Individual case reports of clear cell type of follicular adenoma within the ectopic thyroid tissue have been described in the literature. CASE PRESENTATION: We present a rare case of microfollicular follicular adenoma in an ectopic sublingual thyroid tissue presenting as submental swelling in a euthyroid 24-year-old Dravidian woman. CONCLUSION: Findings in this case emphasize that when confronted with a submental/sublingual mass lesion, the evaluation of thyroid function tests and ultrasonography of the neck should be included in a pre-operative workup.

A rare case of synchronous right ovarian clear cell carcinoma and an incidental left ovarian endometrioid carcinoma with immunohistochemical study.

Bilateral primary synchronous ovarian neoplasms are rarely encountered in clinical practice. Both ovaries harboring neoplasms is predominantly appreciated as, metastasis from a distant primary or secondary from an advanced primary ovarian neoplasm. However in both the above instances, the histomorphological evaluation is of paramount importance. We encountered an incidental left ovarian, International Federation of Gynecology and Obstetrics grade 2, endometrioid carcinoma in a patient presenting with a right ovarian mass immunohistopathologically proven to be clear cell carcinoma. The documentation of such rare occurrence is of utmost importance for better understanding of histogenesis of ovarian cancers, which may impact management strategies.

Papillary squamotransitional cell carcinoma of the uterine cervix: A histomorphological and immunohistochemical study of nine cases.

BACKGROUND: Papillary squamotransitional cell carcinoma (PSCC) is a distinctive subcategory of squamous cell carcinoma of the uterine cervix. It has a propensity for local recurrence and late metastasis. Histologically, it can be misinterpreted as transitional cell carcinoma, or other papillary lesions of the cervix including squamous papilloma, verrucous carcinoma or cervical intraepithelial neoplasia grade 3 with papillary configuration. MATERIALS AND METHODS: Nine cases of PSCC of the uterine cervix were diagnosed on a cervical biopsy specimen on routine hematoxylin and eosin (H and E) stained sections. Their clinic-morphological features were analyzed. The cases were further evaluated immunohistochemically by cytokeratin 7 (CK7), cytokeratin 20 (CK20), p53 and Ki-67. RESULTS: The patients ranged in age from 35 years to 75 years; with abnormal uterine bleeding being the most common clinical presentation. All the cases showed papillary architecture with fibrovascular cores lined by multilayered atypical epithelium. Three cell types were observed: Clear, intermediate and basaloid. Stromal invasion was seen in five cases, whereas in the remaining four cases, the biopsy specimen was too superficial to definitely assess invasion. Immunohistochemically, eight cases were CK7(+)/CK20(-) and one case was CK7(-)/CK20(-). All nine cases showed nuclear accumulation of mutant p53. Moderate and high proliferative activity was observed in two and seven cases, respectively. Five of patients for whom follow-up information was available underwent radical hysterectomy and two of them were disease free 18 months following treatment. CONCLUSION: PSCC of the uterine cervix are a clinicomorphologically distinct group of cervical lesions that display a morphologic spectrum. They are potentially aggressive malignant tumors that should be distinguished from transitional cell carcinoma and other papillary lesions of the uterine cervix.

Angiomatous leiomyoma of the urachus: A rare entity masquerading as extraluminal gastrointestinal stromal tumor.

The urachus is a vestigial structure located between the dome of the bladder and the umbilicus, which results from the involution of the allantoic duct and the cloaca. Persistence of an embryonic urachal remnant can cause various problems during childhood and young adulthood. Urachal leiomyoma is a rare entity with very few cases being reported in literature. It can be misdiagnosed and confused with a wide spectrum of intra-abdominal or pelvic disorders. We hereby report a case of angiomatous leiomyoma originating from the urachal remnant in a 45-year-old lady, masquerading as extraluminal gastrointestinal stromal tumor. Understanding the embryological basis of these urachal disorders and their imaging features coupled with histopathological examination is crucial for the correct diagnosis and management. Pathological diagnosis is required to optimize the surgical approach and preclude unnecessary radical surgery.

Malignant peripheral nerve sheath tumor of facial nerve: Presenting as parotid mass.

Malignant peripheral nerve sheath tumor (MPNST) is very uncommon tumor of parotid gland and it is an uncommon spindle cell sarcoma accounting for approximately 5% of all soft-tissue sarcoma. There is strong association between MPNSTs and neurofibromatosis (NF-1) and previous irradiation. Structural abnormality of chromosome 17 is associated with NF-1 and so MPNST. We present a case of a 78-year-old male presenting with slowly growing parotid mass who underwent tumor resection.

Primary adrenal leiomyosarcoma: a case report with immunohistochemical study and review of literature.

Primary adrenal mesenchymal tumors are exceptionally rare. Diagnosis is based entirely on histological and immunohistochemical evaluation which is indispensable not only for determining tumor type but also for predicting biological behavior. We report a rare case of primary leiomyosarcoma of the left adrenal gland, in a 60 year old woman who presented with flank pain. Computed tomography revealed a well defined left adrenal tumor which was surgically resected. Histological examination of the tumor showed malignant spindle cells in interlacing fascicles and whorls. Nuclear pleomorphism, tumor giant cells and abnormal mitotic figures were seen. On immunohistochemistry, the tumor cells showed reactivity for smooth muscle actin, vimentin and desmin; and were negative for cytokeratin, S100 protein, CD117 and HMB-45. A diagnosis of primary adrenal leiomyosarcoma was offered. Postoperative recovery of the patient was uneventful and the patient was symptom free with no evidence of tumor metastasis or recurrence 21 months after surgery.

Palmar well differentiated spindle cell liposarcoma: presentation of a rare tumor at a rare site.

The most common soft tissue sarcomas of hand are epitheloid sarcomas, synovial sarcomas and malignant fibrous histiocytomas which are high grade, aggressive tumors. Liposarcomas of the hand are extremely rare and to the best of our knowledge less than 20 cases have been reported so far in the literature. Well differentiated spindle cell liposarcoma is an extremely rare subtype of well differentiated liposarcoma/atypical lipomatous tumor which is different from the other subtypes clinicopathologically, genetically and prognostically. Palmar localization of this rare variant of liposarcoma at this site makes ours only the second case reported in the world literature so far. This recently described entity is low grade lesion and the hand surgeons need to adopt a less aggressive approach in the treatment of this subtype.