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Virchows Archiv
Erschienen in:

06.09.2018 | Brief Report

Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report

verfasst von: Matthias Tallegas, Sylvie Fraitag, Aurélien Binet, Daniel Orbach, Anne Jourdain, Stéphanie Reynaud, Gaëlle Pierron, Marie-Christine Machet, Annabel Maruani

Erschienen in: Virchows Archiv | Ausgabe 1/2019

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Abstract

Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. We report a case of congenital CD34-positive dermohypodermal spindle-cell neoplasm occurring in a female infant and harboring a novel KHDRBS1-NTRK3 fusion. This tumor could belong to a new subgroup of pediatric cutaneous spindle-cell neoplasms, be an atypical presentation of a plaque-like CD34-positive dermal fibroma, of a fibroblastic connective tissue nevus, or represent a dermatofibrosarcoma protuberans with an alternative gene rearrangement.
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Metadaten
Titel
Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report
verfasst von
Matthias Tallegas
Sylvie Fraitag
Aurélien Binet
Daniel Orbach
Anne Jourdain
Stéphanie Reynaud
Gaëlle Pierron
Marie-Christine Machet
Annabel Maruani
Publikationsdatum
06.09.2018
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv / Ausgabe 1/2019
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-018-2415-0

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