Genetic Profile of Indian Pheochromocytoma and Paraganglioma Patients - A Single Institutional Study.

ABSTRACT:

Background and aims

Pheochromocytomas (PCCs) and Paragangliomas (PGL) are rare catecholamine producing tumors that may present in sporadic or familial settings. Despite vast strides in understanding of PCC/PGL genetics in the last two decades, there is a dearth of information from India. The aim here is to study the prevalence of genetic mutations in Indian PCC/PGL patients.

Settings and design

Tertiary care academic hospital; prospective study.

Methods

50 histopathologically diagnosed PCC/PGL patients formed the study group. Clinical, biochemical, pathological attributes and outcomes were documented and the phenotype was compared to the genotype. Succinyl dehydrogenase (SDH), Re-Arranged during Transfection (RET), Von-Hippel-Lindau (VHL) and NeuroFibromatosis-1 (NF1)

SUBMITTER: Agarwal G 

PROVIDER: S-EPMC6844179 | biostudies-literature | 2019 Jul-Aug

REPOSITORIES: biostudies-literature