Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis

Béla Tóth, Norbert Kiss, Judit Hársing, Sarolta Kárpáti, Judit Csomor, Csaba Bödör, József Tímár, E. Rásó

Research output: Contribution to journalArticle

Abstract

Langerhans cell histiocytosis (LCH) is characterized by mutations of the RAS-RAF-MAPK signaling pathway. We analyzed MAP2K1, NRAS and KIT mutation incidence in skin lesions of BRAF wild-type (wt) LCH patients. We evaluated the occurrence of MAP2K1, NRAS and KIT mutations in seven LCH and one indeterminate cell histiocytosis (ICH) patients. MAP2K1 mutation frequency was found to be 3/7 (42.9%) in LCH and also found in ICH. Similarly, the KIT mutation frequency was found to be equally prevalent (4/7, 57.1%) in LCH and also occurred in ICH. Involvement of KIT exons in LCH-ICH indicated that exon 9/11/18 were equally prevalent followed by exon 13. This exploratory analysis on BRAF-wt LCH revealed a KIT mutation rate comparable to MAP2K1. Although the detected KIT mutations are different from activating mutations found in other KIT-dependent neoplasms, our data suggest that KIT-inhibitors might have a role in treating BRAF-wt LCH patients.

Original languageEnglish
JournalVirchows Archiv
DOIs
Publication statusAccepted/In press - Jan 1 2020

Keywords

  • BRAF
  • KIT
  • Langerhans cell histiocytosis
  • MAP2K1
  • NRAS

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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