title: Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India.
abstract: Determining the mutational status of susceptibility genes including RET, VHL, SDHx (SDHB, SDHC, SDHD) among patients with pheochromocytoma/paraganglioma (PCC/PGL) is gaining importance. These genes have not been systematically characterized among patients with PCC/PGL from India. The aim of the work was to screen the most frequently mutated genes among patients with PCC/PGL to determine the frequency and spectrum of mutations seen in this region. Fifty patients with PCC/PGL treated at our tertiary care hospital between January 2010 and June 2012 were screened for mutations in susceptibility genes using an algorithmic approach. Thirty-two percent (16/50) of patients were found to be positive for mutations including mutations among RET (n=4), VHL (n=6), SDHB (n=3), and SDHD (n=3) genes. None of these patients were positive for SDHC mutations. A significant association was found between young patients with bilateral tumors and VHL mutations (p=0.002). Two of the 3 patients with extra-adrenal SDHB associated tumors, had unique mutations, viz., c.436delT (exon 5) and c.788_857del (exon 8), one of which was malignant. High frequency of mutations seen among patients in this study emphasizes the need to consider mutational analysis among Indian patients with PCC/PGL.
authors: Department of Pathology, Christian Medical College, Vellore, India.
authors: R
authors: R
authors: Pai
authors: Department of Pathology, Christian Medical College, Vellore, India.
authors: A
authors: A
authors: Ebenazer
authors: Department of Endocrine Surgery, Christian Medical College, Vellore, India.
authors: M J
authors: MJ
authors: Paul
authors: Department of Endocrinology and Metabolism, Christian Medical College, Vellore, India.
authors: N
authors: N
authors: Thomas
authors: Department of Endocrine Surgery, Christian Medical College, Vellore, India.
authors: A
authors: A
authors: Nair
authors: Department of Endocrinology and Metabolism, Christian Medical College, Vellore, India.
authors: M S
authors: MS
authors: Seshadri
authors: Department of Nuclear Medicine, Christian Medical College, Vellore, India.
authors: R
authors: R
authors: Oommen
authors: Department of Nuclear Medicine, Christian Medical College, Vellore, India.
authors: N
authors: N
authors: Shanthly
authors: Department of Urology, Christian Medical College, Vellore, India.
authors: A
authors: A
authors: Devasia
authors: Department of Biostatistics, Christian Medical College, Vellore, India.
authors: G
authors: G
authors: Rebekah
authors: Department of Biostatistics, Christian Medical College, Vellore, India.
authors: L
authors: L
authors: Jeyaseelan
authors: Department of Endocrinology and Metabolism, Christian Medical College, Vellore, India.
authors: S
authors: S
authors: Rajaratnam
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D062606:Tertiary Care Centers
chemical_list: D009363:Neoplasm Proteins