CD117 immunoexpression in oral and sinonasal mucosal melanoma does not correlate with somatic driver mutations in the MAPK pathway

• Published in: Journal of oral pathology & medicine 2019-05, Vol.48 (5), p.382-388
• Main Authors: Maldonado‐Mendoza, Jessica, Ramírez‐Amador, Velia, Anaya‐Saavedra, Gabriela, Ruíz‐García, Erika, Maldonado‐Martínez, Héctor, Fernández Figueroa, Edith, Meneses‐García, Abelardo
• Format: Article
• Language: English
• Subjects: cancer; C‐KIT expression; DNA Mutational Analysis; Humans; Immunohistochemistry; MAP kinase; MAP Kinase Signaling System - genetics; Melanoma; Melanoma - genetics; Membrane Proteins; Mexico; Microphthalmia-associated transcription factor; mitogen‐activated protein kinase mutations; Mouth Mucosa - pathology; Mouth Neoplasms - genetics; Mucosa; Mutation; Mutation hot spots; Nasal Mucosa - pathology; Nose Neoplasms - genetics; oral and sinonasal melanoma; Proto-Oncogene Proteins c-kit - genetics; PTEN protein; Retrospective Studies; Tumors
• ISSN: 0904-2512; 1600-0714
• DOI: 10.1111/jop.12849

Background Mutations on KIT and downstream genes of MAPK pathway that overstimulate cellular proliferation have been associated with primary oral and sinonasal melanomas (POSNM), but there is limited information that allows the use of personalized therapy. Thus, the aim of the present study was to determine a possible association between the C‐KIT immunohistochemical expression with the presence of somatic driver mutations in NRAS, BRAF, KIT, MITF and PTEN on POSNM. Methods A retrospective study included 62 tumour samples of an oncological reference centre in Mexico City (17‐year period). Immunohistochemistry stain of C‐KIT was carried out. Genomic DNA was obtained and used to assess hotspot mutations of KIT, NRAS, BRAF, MITF and PTEN through qPCR. Chi‐square, Fisher's exact and the Mann‐Whitney U tests were applied when necessary. The significance was set at P