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

Thais Gulim De Carvalho; Ana Carolina De Carvalho; Danielle Calheiros Campelo Maia; Juliana Kaori Ogawa; Andre Lopes Carvalho; Andre Luiz Vettore

doi:10.3892/or.2013.2455

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

Oncol Rep. 2013 Jul;30(1):334-40. doi: 10.3892/or.2013.2455. Epub 2013 May 13.

Authors

Thais Gulim De Carvalho¹, Ana Carolina De Carvalho, Danielle Calheiros Campelo Maia, Juliana Kaori Ogawa, Andre Lopes Carvalho, Andre Luiz Vettore

Affiliation

¹ Cancer Molecular Biology Laboratory, Department of Science Biology, Federal University of São Paulo (UNIFESP), 04039-032, São Paulo, SP, Brazil.

PMID: 23670291
DOI: 10.3892/or.2013.2455

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Base Sequence
Carcinoma, Squamous Cell / genetics*
Class I Phosphatidylinositol 3-Kinases
Female
Head and Neck Neoplasms / genetics*
Humans
Janus Kinase 1 / genetics
Janus Kinase 2 / genetics
MAP Kinase Signaling System / genetics*
Male
Middle Aged
Mitogen-Activated Protein Kinases / genetics
Phosphatidylinositol 3-Kinases / genetics
Polymorphism, Single Nucleotide
Proto-Oncogene Proteins / genetics
Proto-Oncogene Proteins B-raf / genetics
Proto-Oncogene Proteins p21(ras)
Sequence Analysis, DNA
Squamous Cell Carcinoma of Head and Neck
ras Proteins / genetics

Substances

KRAS protein, human
Proto-Oncogene Proteins
Phosphatidylinositol 3-Kinases
Class I Phosphatidylinositol 3-Kinases
PIK3CA protein, human
JAK1 protein, human
JAK2 protein, human
Janus Kinase 1
Janus Kinase 2
BRAF protein, human
Proto-Oncogene Proteins B-raf
Mitogen-Activated Protein Kinases
Proto-Oncogene Proteins p21(ras)
ras Proteins