Pragati Aditya Sathe

Primary hyperparathyroidism: a clinicopathological experience.

BACKGROUND Parathyroid neoplasms form a small percentage of head and neck neoplasms. Primary hyperparathyroidism is caused by parathyroid adenomas, hyperplasia or, rarely, a carcinoma. MATERIALS AND METHODS This is a retrospective study of 48 parathyroidectomies received in the Department of Pathology of a major teaching hospital over a period of 10 years. Clinical, biochemical and radiological details were retrieved from medical records. Information regarding routine gross and microscopic examination findings (including frozen section and paraffin sections) was retrieved from departmental records. RESULTS We had 43 adenomas, three hyperplasias and two carcinomas. The most common age group was 21-30 years. The female:male ratio was 2.5:1. Most patients presented with skeletal manifestations. The pre-operative diagnosis was assisted by ultrasonography in 11 cases, computerized tomography of the neck in 10 cases and sestamibi scans in three cases. Intra-operative parathormone monitoring was performed in one case of adenoma. Frozen section was requested in 28 of 48 cases. There was a discrepancy between frozen section diagnosis and paraffin section diagnosis in two cases. CONCLUSION Histopathologic diagnosis is an important guide to decide the type of surgical management. Although pathologic features of parathyroid carcinoma are diagnostically reliable, those of the more commonly encountered lesions of adenoma and hyperplasia may be overlapping and, therefore, indistinctive, more so if only a single gland is available for examination. Because parathyroid lesions are only occasionally encountered by the surgical pathologist, awareness of the spectrum of histologic features along with knowledge of recent trends in diagnosis and surgical management are important.

Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma

BACKGROUND Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce. OBJECTIVE To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients. DESIGN In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated. Phenotypic data were collected. Germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested by sequencing and NF1 was diagnosed according to phenotype. RESULT Of the total population, 49 (32.7%) PCC/PGL patients had germline mutations (VHL: 23 (15.3%), RET: 13 (8.7%), SDHB: 9 (6%), SDHD: 2 (1.3%) and NF1: 2 (1.3%)). Amongst the 30 patients with familial and/or syndromic presentation, all had germline mutations (VHL: 14 (46.7%), RET: 13 (43.3%), SDHB: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (VHL: 9 (7.5%), SDHB: 8 (6.7%) and SDHD: 2 (1.7%)). Mutation carriers were younger (29.9 ± 14.5 years vs 36.8 ± 14.9; P = 0.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, P < 0.001) and multifocal tumours (12.2% vs 0.96%, P = 0.06). Based on syndromic features, metastasis, location and number of tumours, around 96% mutations in our cohort could be detected by appropriately selected single gene testing. CONCLUSION Asian Indians with PCC/PGL differ from Western cohorts in having preponderance of VHL mutations in multifocal tumours and apparently sporadic unilateral PCC. Syndromic presentation, metastasis, location and number of PCC/PGL can be effectively used for guiding genetic prioritisation.

OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

OBJECTIVE Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.

Sirenomelia with oesophageal atresia: a rare association.

We are reporting a rare case of sirenomelia with oesophageal atresia. Sirenomelia is a lethal sporadic defect of which lower gastrointestinal tract anomalies are characteristic findings. Respiratory and upper gastrointestinal tract malformations like oesophageal atresia occur in about 20-35% of cases. Though its occurrence has been described, it has been reported only rarely. This report aims at describing this uncommon association along with its histological features.

Fetus in fetu: An Institutional Experience

The objective of this article is to present an analysis of cases of fetus in fetu (FIF) diagnosed at our institute and to compare our data to that of the published literature. This is a retrospective analysis of cases of FIF diagnosed at our institute from January 2000 to December 2012. Details of clinical and investigational data pertaining to cases of FIF were retrieved from hospital records, and were analyzed and summarized. Literature was reviewed and our data were compared to that of published cases. We evaluated seven cases (4 males and 3 females) of FIF during the study period. The age of patients ranged from two days to 15 years. The most common site of occurrence in our study was the retroperitoneum, with the most common presenting feature being an abdominal mass. Radiology showed a solid-cystic mass. Pathologic findings were diagnostic of FIF. Most findings of our study matched with those reported in literature. The condition of FIF must be included in the differential diagnosis of abdominal masses, especially in children. This entity must be differentiated from the more commonly occurring teratoma, which can be done based on its unique clinical, radiologic, and pathologic characteristics. To our knowledge, this is the longest series of cases of FIF reported from a single institute.

Multifocal Nephrogenic Adenoma – A Mimicker of Malignancy

The authors report a multifocal nephrogenic adenoma of urinary bladder in an 11-y-old girl. Nephrogenic adenomas occur almost exclusively in the urinary bladder in children and are rarely multifocal. Less than 30 cases of nephrogenic adenomas have been reported in children and very few of these are multifocal. This report aims at drawing attention to this rare entity in children.

Unusual rib tumor: parosteal lipoma with extensive osteochondromatous metaplasia.

Lipomas of the bone usually occur in the long bones and are seen in the fifth to seventh decade of life. Rib lipomas are rare and those having parosteal location are even rarer. We report a case of parosteal lipoma of the rib in a young male with some unique features. This is the fifth case of its kind to be reported in literature.

Hepatic capillariasis: A rare parasitic infection

Capillaria hepatica discovered in 1893 by Bankroft is a nematode of family Trichocephalidea and class Trichuroidea, similar to Trichuris trichiura. The parasite primarily infects the rodents with rare cases of human infections. Approximately 90% of the rats are infected with Capillaria species. This explains the global distribution of sporadic cases of C. hepatica. Humans are the accidental host with <50 cases reported worldwide. From India, till date only 2 cases have been reported. We, hereby, report the third case of C. hepatica in a 2‐year‐old male child.[1‐3]

Endoscopic ultrasound guided brush/fine-needle aspiration cytology: A 15-month study

Endoscopic ultrasound‐guided fine‐needle aspiration (EUS‐FNA) has become increasingly popular for the diagnosis and staging of gastrointestinal diseases and peri‐gastrointestinal lesions. The application of FNA/Brush has dramatically expanded the clinical utility of EUS.

Clinicopathologic analysis of Wilms’ tumor – A retrospective study of 35 cases over 10 years.

Background: Wilms’ tumor is the commonest pediatric renal tumor and has a peak incidence between two and five years of age. Clinicopathological staging of Wilms’ tumor is the single most important prognostic determinant and therefore histopathological analysis is important. Methods: This is a retrospective study of diagnosed cases of Wilms’ tumor received as surgical and autopsy specimens in the department of pathology in a major teaching hospital over a period of ten years. Clinical, biochemical and radiological details were retrieved from medical records. Information regarding routine gross and microscopic examination findings (paraffin sections) was retrieved from departmental records Result: We received 24 nephrectomies, three post mortem specimens and eight biopsies. Maximum cases were found between two to five years of age with no gender predilection. Most patients presented with abdominal lump. Grossly, majority specimens had a variegated cut surface whereas two cases had a predominantly cystic appearance. Microscopically, 26 cases showed classic triphasic histology. Eight out of 27 cases (nephrectomies and post mortem cases) received preoperative chemotherapy. All cases showed extensive chemotherapeutic response and one case showed post – chemotherapy change mimicking a cystic partially differentiated nephroblastoma (CPDN). Of the remaining 19 cases which did not receive chemotherapy, only one case had an unfavorable histology. A rare case of CPDN was reported. Conclusion: Histopathologist plays an important role in the diagnosis of Wilms tumor. Clinical, radiological and pathological correlation is necessary in the final reporting of these cases. DOI:10.21276/APALM.1606