Autologous hematopoietic stem cell transplantation for efficient treatment of multisystem, high-risk, BRAF V600E-negative Langerhans cell histiocytosis
Open Access
- 20 August 2019
- journal article
- research article
- Published by SAGE Publications in Journal of International Medical Research
- Vol. 47 (9), 4522-4529
- https://doi.org/10.1177/0300060519864807
Abstract
Langerhans cell histiocytosis (LCH) is a disorder caused by clonal proliferation of CD1a+/CD207+ cells and characterized by varying degrees of organ involvement. Treatment of LCH is risk adapted; patients with multisystem disease and risk-organ involvement require more intensive therapy. Optimal therapies for multisystem, high-risk LCH remain uncertain. Recently, targeted therapy using inhibitors of mutated BRAF (the gene encoding serine/threonine-protein kinase B-Raf) has proven very effective in patients with multisystem refractory LCH. Herein, we report a case of LCH with involvement of the bones, liver, and lymph nodes. Using next-generation sequencing of the patient’s pathological sample, we identified a mutation in MAP2K1 in exon 3 (c.362G>C, p.Cys121Ser) and no mutation in BRAF; thus, high-risk, multisystem LCH with MAP2K1 mutation and wild-type BRAF was diagnosed. After four chemotherapy treatments (COEP regimen), the patient received autologous hematopoietic stem cell transplantation (auto-HSCT). Complete remission was confirmed by follow-up positron emission tomography–computed tomography, which showed no lesions in liver, lymph nodes, or bones compared with the pretreatment period. To date, the patient has sustained good health for 24 months. In conclusion, auto-HSCT may be an effective treatment option for high-risk, multisystem BRAF V600E-negative LCH.Keywords
This publication has 20 references indexed in Scilit:
- Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem InvolvementMayo Clinic Proceedings: Innovations, Quality & Outcomes, 2018
- Single-agent dabrafenib for BRAF V600E -mutated histiocytosisHaematologica, 2018
- Hematopoietic origin of Langerhans cell histiocytosis and Erdheim-Chester disease in adultsBlood, 2017
- Efficacy of the MEK inhibitor cobimetinib for wild‐type BRAF Erdheim‐Chester diseaseBritish Journal of Haematology, 2016
- Langerhans cell histiocytosis in children: from the bench to bedside for an updated therapyBritish Journal of Haematology, 2016
- MAP2K1 and MAP3K1 mutations in langerhans cell histiocytosisGenes, Chromosomes and Cancer, 2015
- Progress in understanding the pathogenesis of Langerhans cell histiocytosis: back to Histiocytosis X?British Journal of Haematology, 2014
- Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutationBlood, 2013
- Recurrent BRAF mutations in Langerhans cell histiocytosisBlood, 2010
- Cell-Specific Gene Expression in Langerhans Cell Histiocytosis Lesions Reveals a Distinct Profile Compared with Epidermal Langerhans CellsThe Journal of Immunology, 2010