BRAF V600E Mutation: A significant biomarker for prediction of disease relapse in pediatric langerhans cell histiocytosis

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dc.contributor.authorÖzer, Erdener
dc.contributor.authorSevinç, Akın
dc.contributor.authorİnce, Dilek
dc.contributor.authorYüzügüldü, Resmiye
dc.contributor.authorOlgun, Nur
dc.date.accessioned2021-05-15T11:34:20Z
dc.date.available2021-05-15T11:34:20Z
dc.date.issued2019
dc.departmentTıp Fakültesi, Biyokimya Bölümüen_US
dc.descriptionINCE, Dilek/0000-0002-7914-7886
dc.description.abstractLangerhans cell histiocytosis (LCH) is a rare disease presenting with usually a localized disease but sometimes a widespread aggressive disorder especially in children. Among the somatic mutations in RAF-MEK-ERK pathway, especially BRAF mutation has been detected so far in LCH. We aimed in this study to investigate the prognostic significance of the mutations of target genes playing a role in the RAF-MEK-ERK pathway in pediatric LCH. Mutation analyses were performed on tumor DNA extracted from formalin-fixed paraffin-embedded biopsy specimens of 38 pediatric LCH cases using a direct sequencing technique for BRAF, ARAF, MAP2K1, and MAP3K1 genes. The mutational status was correlated statistically with survival, clinical progression (disease relapse), and the established clinical prognostic parameters of LCH such as age, gender, localization, multisystem disease, central nervous system risk lesions, and risk organ or special-site involvement. BRAF V600E mutation was detected in 14 cases (36.8%), whereas ARAF mutation was found in only 1 case. No mutations were identified for MAP2K1 and MAP3K1 genes. The association of BRAF V600E mutation was significant in children with multisystem disease, younger age (<2 years), skin, and special organ involvement. BRAF V600E mutation was an independent predictive parameter for disease relapse. We therefore conclude that BRAF V600E mutation may be a significant marker for predicting disease progression in LCH and a candidate for targeted therapy for children with disease relapse and multisystem disease.en_US
dc.description.sponsorshipDokuz Eylul University's Research TrustDokuz Eylul University; Turkish Pediatric Oncology Groupen_US
dc.description.sponsorshipThe author(s) disclosed receipt of the following financial supports for the research of this study: The authors thank the Dokuz Eylul University's Research Trust and Turkish Pediatric Oncology Group for funding this research.en_US
dc.identifier.doi10.1177/1093526619847859
dc.identifier.endpage455en_US
dc.identifier.issn1093-5266
dc.identifier.issn1615-5742
dc.identifier.issue5en_US
dc.identifier.pmid31072207
dc.identifier.scopus2-s2.0-85065766689
dc.identifier.scopusqualityQ2
dc.identifier.startpage449en_US
dc.identifier.urihttps://doi.org/10.1177/1093526619847859
dc.identifier.urihttps://hdl.handle.net/20.500.12939/310
dc.identifier.volume22en_US
dc.identifier.wosWOS:000486008400007
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorSevinç, Akın
dc.language.isoen
dc.publisherSage Publications Incen_US
dc.relation.ispartofPediatric and Developmental Pathology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBRAFen_US
dc.subjectChildhooden_US
dc.subjectLangerhans Cell Histiocytosisen_US
dc.subjectMutationen_US
dc.titleBRAF V600E Mutation: A significant biomarker for prediction of disease relapse in pediatric langerhans cell histiocytosis
dc.typeArticle

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