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001-es BibID:	BIBFORM054869
035-os BibID:	PMID: 25118810
Első szerző:	Méhes Gábor (patológus)
Cím:	Activating BRAF V600E mutation in aggressive pediatric Langerhans cell histiocytosis : demonstration by Allele-specific PCR/Direct sequencing and immunohistochemistry / Gábor Méhes, Gábor Irsai, Judit Bedekovics, Lívia Beke, Ferenc Fazakas, Tímea Rózsa, Csongor Kiss
Dátum:	2014
ISSN:	0147-5185
Megjegyzések:	Langerhans cell histiocytosis (LCH) is a rare neoplastic disease originating from cells characterized by antigen-presenting Langerhans cell phenotype. The clinical spectrum of LCH is highly variable including localized and disseminated forms mostly occurring in children. Recently, about 60% of LCHs were reported to carry the activating BRAF mutation V600E. In our retrospective study, we evaluated the occurrence and prognostic impact of the V600E mutation in formaldehyde-fixed, paraffin-embedded samples from 15 pediatric LCH cases treated at our institution. Allele-specific polymerase chain reaction (PCR) and direct sequencing were used to demonstrate the presence of V600E mutation, and immunohistochemistry (IHC) using the mutant protein-specific VE1 antibody clone was performed to confirm mutant BRAF protein expression. Eight of 15 (53.3%) cases proved to be BRAF mutants by any of the methods applied, with a single case showing a discrepancy (PCR negative/IHC positive). Four of the BRAF-mutant cases (50.0%) showed refractory disease and progressed to death within 43 months, whereas the remaining mutant cases were stable and responded well to therapy. Wild-type BRAF cases (7/15, 46.6%) with generally comparable initial presentation were all treated successfully. In conclusion, activating V600E BRAF mutation can be frequently demonstrated in pediatric LCH by both allele-specific PCR and IHC. Unfavorable risk cases potentially also responding to BRAF-inhibitory therapy can be identified by mutation testing using archival formaldehyde-fixed, paraffin-embedded tumor samples.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	The American Journal of Surgical Pathology. - 38 : 12 (2014), p. 1644-1648. -
További szerzők:	Irsai Gábor Bedekovics Judit (1986-) (orvos) Beke Lívia Fazakas Ferenc (1969-) (molekuláris biológus) Rózsa Tímea (1985-) (csecsemő- és gyermekgyógyász) Kiss Csongor (1956-) (hematológus, onkológus)
Pályázati támogatás:	TÁMOP-4.2.2.A-11/1/KONV-2012-0045 TÁMOP Patológia Kutatócsoport TÁMOP-4.2.2.A-11/1/KONV-2012-0025 TÁMOP
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