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Search for mutations in signaling pathways in head and neck squamous cell carcinoma

2013; Elsevier BV; Volume: 30; Issue: 1 Linguagem: Inglês

10.3892/or.2013.2455

1791-2431

THAIS GULIM DE CARVALHO, Ana Carolina de Carvalho, Danielle Calheiros Campelo Maia, Juliana Kaori Ogawa, André Lopes Carvalho, André Luiz Vettore,

Myeloproliferative Neoplasms: Diagnosis and Treatment

Mutations in JAK-STAT signaling pathway genes have been associated with the development of various hematological tumors, but have not been investigated in head and neck tumors, and the PIK3CA, BRAF and KRAS genes have been described in a few cases of head and neck squamous cell carcinoma (HNSCC). In the present study, we determined the mutation status in members of the MAPK, PI3K-AKT and JAK-STAT pathways in HNSCC. Mutations in the KRAS, BRAF, PIK3CA, JAK1 and JAK2 genes were evaluated in 94 HNSCCs by direct DNA sequencing analysis using cDNA synthesized from RNA extracted from patient tumor cells. All patients evaluated had wild-type KRAS, BRAF and PIK3CA genes. Furthermore, although some known polymorphisms have been found in JAK1 genes (rs45598436, rs17127063, rs2230587, rs3737139, rs2230588 and rs12129819) and JAK2 (rs10429491, rs2230723, rs2230724 and rs41316003), no mutation could be detected. Our data indicate that mutations in these kinase genes seem to be rare events in HNSCC.