Molecular profiling of ETS and non-ETS aberrations in prostate cancer patients from northern India.

BACKGROUND: Molecular stratification of prostate cancer (PCa) based on genetic aberrations including ETS or RAF gene-rearrangements, PTEN deletion, and SPINK1 over-expression show clear prognostic and diagnostic utility. Gene rearrangements involving ETS transcription factors are frequent pathogenetic somatic events observed in PCa. Incidence of ETS rearrangements in Caucasian PCa patients has been reported, however, occurrence in Indian population is largely unknown. The aim of this study was to determine the prevalence of the ETS and RAF kinase gene rearrangements, SPINK1 over-expression, and PTEN deletion in this cohort. METHODS: In this multi-center study, formalin-fixed paraffin embedded (FFPE) PCa specimens (n = 121) were procured from four major medical institutions in India. The tissues were sectioned and molecular profiling was done using immunohistochemistry (IHC), RNA in situ hybridization (RNA-ISH) and/or fluorescence in situ hybridization (FISH). RESULTS: ERG over-expression was detected in 48.9% (46/94) PCa specimens by IHC, which was confirmed in a subset of cases by FISH. Among other ETS family members, while ETV1 transcript was detected in one case by RNA-ISH, no alteration in ETV4 was observed. SPINK1 over-expression was observed in 12.5% (12/96) and PTEN deletion in 21.52% (17/79) of the total PCa cases. Interestingly, PTEN deletion was found in 30% of the ERG-positive cases (P = 0.017) but in only one case with SPINK1 over-expression (P = 0.67). BRAF and RAF1 gene rearrangements were detected in ∼1% and ∼4.5% of the PCa cases, respectively. CONCLUSIONS: This is the first report on comprehensive molecular profiling of the major spectrum of the causal aberrations in Indian men with PCa. Our findings suggest that ETS gene rearrangement and SPINK1 over-expression patterns in North Indian population largely resembled those observed in Caucasian population but differed from Japanese and Chinese PCa patients. The molecular profiling data presented in this study could help in clinical decision-making for the pursuit of surgery, diagnosis, and in selection of therapeutic intervention.

Unusual presentation in a case of diffuse large B-cell lymphoma.

Non-Hodgkin's lymphoma are neoplasms derived from T cells and B cells and their precursors in the lymphoid system with higher susceptibility in involvement of extra-nodal sites. Predominant ureteric involvement is an unusual presentation. We present a case of diffuse large B-cell lymphoma with secondary involvement of ureter who had symptoms of urinary tract infection in absence of positive urine culture, non-responsive to broad spectrum antibiotics and masquerading pyogenic infection leading to pyelonephritis with ureteritis. Radiological examination revealed mass like soft tissue thickening of ureter extending from renal pelvis throughout the length of ureter. FNAC as well as biopsy from the periureteric thickening revealed lymphomatous involvement of ureter. The following case report provides insight on differentials and varied symptoms of lymphomatous involvement of ureter.

Oral & maxillofacial manifestations in pediatric esthesioneuroblastoma-report of a case and review of literature.

Esthesioneuroblastoma (ENB) is a rare, malignant neoplasm arising from the olfactory epithelial cells, with only approximately 100 pediatric cases being reported in the literature since its original description in 1924. As a result of its origin high in the nasal cavity, most patients have non-specific symptoms, precluding early diagnosis and leading to the development of locally advanced disease that usually has been found to involve the orbital cavity, paranasal sinuses, and anterior cranial fossa in children. The purpose of this paper was to report a rare case of pediatric esthesioneuroblastoma diagnosed following the patient's dental complaints, wherein local invasion of the tumor into the maxillofacial region was noticed before its extension into other vital structures.

Primary Sjogren's syndrome: rarity in India.

OBJECTIVE: Primary Sjogren's syndrome (SS) is rarely reported from India. We have studied the clinical spectrum and immunological profile of patients with primary SS. METHODS: A prospective analysis of patients with primary Sjogren's syndrome fulfilling San Francisco criteria, seen at our clinic in the last 10 years was carried out. RESULTS: The study included 26 patients, 21 being women. The presenting symptoms included dry eyes, dry mouth, and arthritis/arthralgia. Extra-glandular manifestations were glomerulonephritis, vasculitis, renal tubular acidosis and peripheral neuropathy. The important laboratory abnormalities were hypergammaglobulinaemia (16/20), antinuclear antibodies (18/26), anti-La (11/19) and anti-Ro (10/19). Minor salivary gland provided a definitive diagnosis in 16/26 (60%). CONCLUSION: The prevalence of primary Sjogren's syndrome is rare even in tertiary care rheumatology clinics. The clinical and immunological profile as seen here is similar to that reported in Western countries.

Oropharyngeal leiomyosarcoma.

A unique case of Oropharyngeal leiomyosarcoma in a 32 years old male is presented with the review of literature The details of clinical, radiological, histopathological and operative findings are discussed The treatment of choice is complete tumor removal The patient was symptom free with no evidence of loco regional or distant metastasis at one-year follow up.