Novel ANKRD26 and PDGFRB gene mutations in pediatric case of non-Langerhans cell histiocytosis: Case report and literature review.

Autor: Fayiga FF; Children's Skin Center, Miami, Florida, USA.; Division of Dermatology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, Florida, USA.; Wright State University Boonshoft School of Medicine, Dayton, Ohio, USA., Reyes-Hadsall SC; Children's Skin Center, Miami, Florida, USA.; Division of Dermatology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, Florida, USA.; University of Miami Miller School of Medicine, Miami, Florida, USA., Moreno BA; Children's Skin Center, Miami, Florida, USA.; Division of Dermatology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, Florida, USA.; Lake Erie College of Osteopathic Medicine, Bradenton, Florida, USA., Oh KS; Mount Sinai Medical Center, Miami Beach, Florida, USA., Brathwaite C; Department of Pathology and Laboratory Medicine, Nicklaus Children's Hospital, Miami, Florida, USA., Duarte AM; Children's Skin Center, Miami, Florida, USA.; Division of Dermatology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, Florida, USA.
Jazyk: angličtina
Zdroj: Journal of cutaneous pathology [J Cutan Pathol] 2023 May; Vol. 50 (5), pp. 425-429. Date of Electronic Publication: 2023 Mar 08.
DOI: 10.1111/cup.14404
Abstrakt: Cutaneous non-Langerhans cell histiocytosis (NLCH) is a rare and biologically benign entity that can be broadly classified into two categories: xanthogranuloma and non-xanthogranuloma. The xanthogranuloma family is characterized by a proliferation of histiocytes with both macrophage and dendritic cell differentiation, negative BRAF mutation, and rare Touton-type giant cells. Molecular studies have reported that mutations involved in the MAPK signaling pathways are implicated in the pathophysiology of histiocytoses. While LCH is associated with the somatic mutation of BRAF v600e, however, mutations and gene fusions in NLCH cases are undefined. We hereby present a 19-month-old female with recalcitrant nodular rashes diagnosed as NLCH with associated novel genetic mutation involving ANKRD26 and PDGFRB genes, as well as PDGFRB::CD74 fusion mRNA. Immunohistochemical staining showed strong and diffuse CD68 and CD163 positivity, and negative CD1a, CD207, ALK D5F3, S100 protein, and BRAF V600E (VE1). Albeit unknown significance, this case of an ANKRD26 and PDGFRB gene mutation in cutaneous NLCH has not been reported prior in the literature. Our case highlights the advantage of pathology and genetic studies in cutaneous NLCH to increase the understanding of this heterogeneous enigmatic disorder and identify further options in management.
(© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje