Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Aug 23;6(16):4901-4904.
doi: 10.1182/bloodadvances.2022007519.

Cellular distribution of mutations and association with disease risk in Langerhans cell histiocytosis without BRAFV600E

Paul Milne  1 , Harshal Abhyankar  2 , Brooks Scull  2 , Preeti Singh  1 , Rikhia Chakraborty  2 , Carl E Allen  2   3 , Matthew Collin  1
Affiliations

Cellular distribution of mutations and association with disease risk in Langerhans cell histiocytosis without BRAFV600E

Paul Milne et al. Blood Adv. .
No abstract available

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Distritubution of non-BRAFV600E mutations. (A) Allele burden of MAPK mutations at diagnosis according to clinical stage: SS, RO− MS-LCH, or RO+MS-LCH. (B) Distribution of MAPK mutations in PBMCs from patients with MS-LCH sorted into quadrants as shown according to expression of HLA-DR and lineage antigens (CD3, CD19, CD20, and CD56). Area of each quadrant in the pie is proportional to the total number of mutant alleles (mutated allele fraction multiplied by number of cells in the quadrant). (C) Distribution of MAPK mutations among PBMCs from patients with MS-LCH showing the percentage of mutated alleles detected. Red shading indicates positive fractions weighted by abundance within each sample. B, B cell; mono, monocyte; nt, not tested; pDC, plasmacytoid DC. *P < .05, **P < .001 by Mann-Whitney test (excluding patients with BRAFV600E).
See this image and copyright information in PMC

References

    1. Badalian-Very G, Vergilio JA, Degar BA, et al. . Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919-1923. - PMC - PubMed
    1. Chakraborty R, Hampton OA, Shen X, et al. . Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014;124(19):3007-3015. - PMC - PubMed
    1. Durham BH, Lopez Rodrigo E, Picarsic J, et al. . Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. Nat Med. 2019;25(12):1839-1842. - PMC - PubMed
    1. McClain KL, Bigenwald C, Collin M, et al. . Histiocytic disorders. Nat Rev Dis Primers. 2021;7(1):73. - PMC - PubMed
    1. Berres ML, Lim KP, Peters T, et al. . BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups [published correction appears in J Exp Med. 2015;212(2):281]. J Exp Med. 2014;211(4):669-683. - PMC - PubMed

Publication types