5 Result(s)
within
Zofia Hélias-Rodzewicz
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Article
OCT2 expression in histiocytoses
Diagnosis of histiocytosis can be difficult and one of the biggest challenges is to distinguish between reactive and neoplastic histiocytes on histology alone. Recently, OCT2 nuclear expression was reported in...
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Article
Open AccessNew somatic BRAF splicing mutation in Langerhans cell histiocytosis
Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with constitutive activation of the MAPKinase RAS-RAF-MEK-ERK cell signaling pathway. We analyzed 9 LCH cases without BRAF ...
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Article
Open AccessVariation of mutant allele frequency in NRAS Q61 mutated melanomas
Somatic mutations of BRAF or NRAS activating the MAP kinase cell signaling pathway are present in 70% of cutaneous melanomas. The mutant allele frequency of BRAF V600E (M%BRAF) was recently shown to be highly het...
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Article
Open AccessVariations of BRAF mutant allele percentage in melanomas
BRAF mutations are present in 40 % of human skin melanomas. Mutated tumors with an increased percentage of BRAF mutant alleles (BRAF-M%) may have a better response to RAF/MEK inhibitors. We evaluated the BRAF-M% ...
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Article
Open AccessCopy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors
A KIT gain of function mutation is present in 70% of gastrointestinal stromal tumors (GISTs) and the wild-type (WT) allele is deleted in 5 to 15% of these cases. The WT KIT is probably deleted during GIST progres...
