HRAS mutation prevalence and associated expression patterns in pheochromocytoma

Genes, Chromosomes & Cancer
Adam StenmanCatharina Larsson

Abstract

Pheochromocytomas (PCC) and abdominal paragangliomas (PGL) display a highly diverse genetic background and recent gene expression profiling studies have shown that PCC and PGL (together PPGL) alter either kinase signaling pathways or the pseudo-hypoxia response pathway dependent of the genetic composition. Recurrent mutations in the Harvey rat sarcoma viral oncogene homolog (HRAS) have recently been verified in sporadic PPGLs. In order to further establish the HRAS mutation frequency and to characterize the associated expression profiles of HRAS mutated tumors, 156 PPGLs for exon 2 and 3 hotspot mutations in the HRAS gene was screened, and compared with microarray-based gene expression profiles for 93 of the cases. The activating HRAS mutations G13R, Q61R, and Q61K were found in 10/142 PCC (7.0%) and a Q61L mutation was revealed in 1/14 PGL (7.1%). All HRAS mutated cases included in the mRNA expression profiling grouped in Cluster 2, and 21 transcripts were identified as altered when comparing the mutated tumors with 91 HRAS wild-type PPGL. Somatic HRAS mutations were not revealed in cases with known PPGL susceptibility gene mutations and all HRAS mutated cases were benign. The HRAS mutation prevalence of all PPGL published up ...Continue Reading

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Citations

Nov 11, 2017·The Journal of Clinical Endocrinology and Metabolism·Cristóbal Bernardo-CastiñeiraMaría-Dolores Chiara
Jan 25, 2018·Cell and Tissue Research·Stephanie M J FliednerHendrik Lehnert
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May 15, 2018·International Journal of Endocrinology·Bernardo Dias PereiraLuísa Mota-Vieira
Nov 7, 2019·Journal of the Endocrine Society·Swashti AgarwalDavid Paul
Sep 25, 2017·The Journal of Clinical Endocrinology and Metabolism·Lucie EvenepoelEsther Korpershoek
Oct 2, 2020·Clinical Chemistry and Laboratory Medicine : CCLM·Graeme EisenhoferMercedes Robledo
Jan 13, 2021·Endocrine Pathology·Thomas G PapathomasRonald R de Krijger
Nov 4, 2020·International Journal of Molecular Sciences·Hugo M RossittiOliver Gimm

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

GeneSpring
GeneSpring GX

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