Langerhans Cell Histiocytosis (LCH)

Overview

Langerhans Cell Histiocytosis is a Histiocytosis (parent HDCN).

makeanimpact_ccr_2023: LCH was part of the histiocytosis cohort (n=84 profiled) enrolled via direct-to-patient outreach and profiled on MSK-IMPACT PMID:36862133.

Across histiocytosis: BRAF 33% (mostly V600E), MAP2K1 13%, KRAS 7%, CSF1R 2.4% PMID:36862133.
Actionable fusions: MS4A6A-BRAF, DOCK8-BRAF, HLA-A-BRAF, TFG-ALK, PRDX1-NTRK1 (detected by RNA-seq) PMID:36862133.
Germline WES of 372 pediatric cancer patients (Düsseldorf) identified one LCH patient (LPP_20) carrying two distinct heterozygous LP/PVs: CHEK2 c.1165C>T p.(Arg389Cys) and NF1 c.4137dup p.(Ala1380Serfs*15), without neurofibromatosis type 1 features but with positive family history of late-onset cancers PMID:29489754

LCH and ECD together constitute the histiocytosis cohort in this study PMID:36862133.

56% of histiocytosis patients had a potentially actionable alteration; 17/18 (94%) of those matched to targeted therapy had clinical benefit, mean treatment duration 21.7 months PMID:36862133.
MAPK-directed therapy (vemurafenib, dabrafenib, trametinib, cobimetinib) was effective in this context PMID:36862133.

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