Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis

• DOI: 10.1002/gcc.22010
• Publication Date: 2012-09-21T11:15:11Z
• Authors: Rina Kansal; Leticia Quintanil...; Vivekananda Datta; Jean Lopategui; Gary Garshfield; Bharat N. Nathwani
• Keywords: Langerhans Cell Histiocytosis; V600E

Abstract Langerhans cell histiocytosis (LCH) is a well‐known but rare disease that may occur at any age with markedly variable clinical features: self‐regressive, localized, multiorgan, aggressive, or fatal outcome. Congenital LCH and often clinically benign. While characterized by clonal proliferation of cells, its etiology unknown. Although BRAF V600E mutations were recently identified as recurrent genetic alteration in cases, the significance this mutation within heterogeneous spectrum also currently We studied cutaneous, benign form congenital occurred newborn male, without recurrence for 8 years. Histopathologically, skin lesion excised after birth showed typical cytologic immunophenotypic features LCH. Sequencing analysis Exon 15 gene revealed V600D mutation, an allelic abundance 25–30%, corresponding to cells being hemizygous mutant allele. V600E‐specific polymerase chain reaction was negative. Our report first identify rare, variant LCH, provides support constitutively activated oncogene‐induced senescence mechanism regression congenital, Further, our clinicopathologic findings provide proof time can absence ultraviolet light, proliferation, similar mutation. Additional studies larger numbers patients be valuable ascertain pathophysiologic role © 2012 Wiley Periodicals, Inc.