Gwendolyn Fernandes

Utility of the Paris System in Reporting Urine Cytology

Objective: To find out the utility of The Paris System (TPS) in reporting urine cytology and to compare it with the reporting system currently used in our laboratory. Study Design: This retrospective study was undertaken over a period of 1 year during which slides of all the urine specimens sent for cytological examination were retrieved from our laboratory filling system. They were blindly reviewed and reclassified according to TPS. Surgical follow-up was obtained from the uropathology services of our department. Results: A total of 176 cases were meticulously reviewed. The mean age of the patients was 52 years, and 71% of cases presented with hematuria. Histopathological follow-up was available in 34 cases. Reporting by TPS detected 13.0% high-grade urothelial carcinoma (HGUC) and 5.1% atypical urothelial cells versus 7.3 and 11.9% by the current reporting system, respectively. The sensitivity and diagnostic accuracy for detecting HGUC of TPS were higher than those of our reporting system. Conclusion: TPS has increased the rate of detection of HGUC and reduced the rate of reporting “atypical” urothelial cells. TPS has also standardized the diagnostic criteria, thereby bringing uniformity and reproducibility into the system of reporting for urine cytology.

Giant adrenal myelolipoma

Adrenal myelolipoma is a rare benign tumor composed of adipose and hematopoietic tissue. Most tumors are small in size and incidentally detected. We report a case of giant adrenal myelolipoma weighing 2200 gms which was diagnosed on radiology as a liposarcoma. This case is unusual in view of the large size and presence of bony spicules. To the best of our knowledge, not more than 10 giant adrenal myelolipoma cases have been reported in literature.

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.

Fine-Needle Aspiration Cytology of Breast Lesions with Spontaneous Infarction: A Five-Year Study

Objective: To put forth the cytological features and diagnostic pitfalls of spontaneously infarcted breast lesions on fine-needle aspiration cytology (FNAC). Study Design: We present 19 cases of spontaneously infarcted breast lesions encountered on FNAC over a 5-year period. Histological follow-up was correlated wherever available. Results: The majority of cases were seen in the second decade of life. The smears in all 19 cases were cellular. The cytomorphologic findings were scattered dyscohesive cells (n = 16), ghost cells (n = 11) and necrosis (n = 10). The dyscohesive cells were small and had a normal nuclear cytoplasmic ratio with pyknotic nuclei. The presence of viable epithelial cells or stromal fragments helped in the diagnosis of the primary breast lesion and was seen in all 19 cases. Cytology diagnoses were infarcted fibroadenoma (n = 11), infarcted breast lesion (n = 3), Phyllodes tumor (n = 2), papillary lesion (n = 2) and infarcted benign breast lesion (n = 1). Histopathology was available in 13 cases, 12 were concordant and 1 was inadequate for primary diagnosis. Conclusion: An infarcted breast lesion poses diagnostic difficulties on cytology. It needs to be differentiated from inflammatory lesions and malignancy. A cytopathologist should be aware of the entity and recognize its cytomorphologic features.

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.