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Mutational analysis of the BRAF, RAS and EGFR genes in human adrenocortical carcinomas.

TitleMutational analysis of the BRAF, RAS and EGFR genes in human adrenocortical carcinomas.
Publication TypeJournal Article
Year of Publication2009
AuthorsKotoula, V., Sozopoulos E., Litsiou H., Fanourakis G., Koletsa T., Voutsinas G., Tseleni-Balafouta S., Mitsiades C. S., Wellmann A., & Mitsiades N.
JournalEndocr Relat Cancer
Volume16
Issue2
Pagination565-72
Date Published2009 Jun
ISSN1351-0088
KeywordsAdolescent, Adrenocortical Carcinoma, Adult, Aged, Aged, 80 and over, Child, Female, Genes, ras, Humans, Immunoenzyme Techniques, Male, Middle Aged, Mutation, Phosphorylation, Proto-Oncogene Proteins, Proto-Oncogene Proteins B-raf, ras Proteins, Receptor, Epidermal Growth Factor, Retrospective Studies, Young Adult
Abstract

The serine/threonine kinase B-Raf plays a key role in the Ras/Raf/MEK/ERK pathway that relays extracellular signals for cell proliferation and survival. Several types of human malignancies harbor activating BRAF mutations, most frequently a V600E substitution. The epidermal growth factor receptor (EGFR), a transmembrane tyrosine kinase (TK) receptor that mediates proliferation and survival signaling, is expressed in a wide variety of normal and neoplastic tissues. EGFR inhibitors have produced objective responses in patients with non-small cell lung carcinomas harboring activating EGFR TK domain somatic mutations. We evaluated the presence of mutations in BRAF (exons 11 and 15), KRAS (exons 1 and 2), NRAS (exons 1 and 2), and EGFR (exons 18-21) in adrenal carcinomas (35 tumor specimens and two cell lines) by DNA sequencing. BRAF mutations were found in two carcinomas (5.7%). Four carcinomas (11.4%) carried EGFR TK domain mutations. One specimen carried a KRAS mutation, and another carried two NRAS mutations. No mutations were found in the two adrenocortical cell lines. BRAF- and EGFR-mutant tumor specimens exhibited stronger immunostaining for the phosphorylated forms of the MEK and ERK kinases than their wild-type counterparts. EGFR-mutant carcinomas exhibited increased phosphorylation of EGFR (Tyr 992) compared with wild-type carcinomas. We conclude that BRAF, RAS, and EGFR mutations occur in a subset of human adrenocortical carcinomas. Inhibitors of the Ras/Raf/MEK/ERK and EGFR pathways represent candidate targeted therapies for future clinical trials in carefully selected patients with adrenocortical carcinomas harboring respective activating mutations.

DOI10.1677/ERC-08-0101
Alternate JournalEndocr. Relat. Cancer
PubMed ID19190079

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