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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
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Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

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

Jessica Maldonado-Mendoza1, Velia Ramírez-Amador2, Gabriela Anaya-Saavedra2

  • 1Doctorate in Health and Biological Sciences Program, Universidad Autónoma Metropolitana-Xochimilco, Mexico City, Mexico.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
|March 16, 2019
PubMed
Abstract

Insights

C-KIT immunoexpression is common in primary oral and sinonasal melanomas (POSNM), but does not correlate with MAPK pathway mutations. C-KIT testing is unreliable for identifying POSNM patients eligible for targeted therapies.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Primary oral and sinonasal melanomas (POSNM) are linked to KIT and MAPK pathway mutations driving proliferation.
  • Limited data exists for personalized therapy selection in POSNM.
  • This study investigated the association between C-KIT expression and driver mutations in POSNM.

Purpose of the Study:

  • To determine if C-KIT immunohistochemical expression correlates with somatic mutations in NRAS, BRAF, KIT, MITF, and PTEN in POSNM.
  • To assess the utility of C-KIT as a biomarker for targeted therapy in POSNM.

Main Methods:

  • Retrospective analysis of 62 POSNM tumor samples.
  • C-KIT immunohistochemistry and qPCR for hotspot mutations (NRAS, BRAF, KIT, MITF, PTEN).
  • Statistical analysis using Chi-square, Fisher's exact, and Mann-Whitney U tests (P < 0.05).

Main Results:

  • 74% of POSNM samples showed C-KIT immunoexpression (moderate/strong intensity).
  • Mutations were found in 16.1% of samples: NRAS (6.4%), BRAF (6.6%), and KIT (3.2%).
  • No significant correlation was observed between C-KIT expression and MAPK pathway mutations (P = 0.765).

Conclusions:

  • High C-KIT immunoexpression in POSNM does not associate with MAPK pathway mutations.
  • C-KIT immunohistochemistry is not a reliable biomarker for predicting response to biological therapies in POSNM.
  • Further research is needed to identify predictive biomarkers for personalized treatment in POSNM.
Keywords:
C-KIT expressioncancermitogen-activated protein kinase mutationsoral and sinonasal melanoma

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