Novel KHDRBS1-NTRK3 Rearrangement in a Congenital Pediatric CD34-Positive Skin Tumor: A Case Report - Inria - Institut national de recherche en sciences et technologies du numérique Accéder directement au contenu
Article Dans Une Revue Virchows Archiv: An International Journal of Pathology Année : 2019

Novel KHDRBS1-NTRK3 Rearrangement in a Congenital Pediatric CD34-Positive Skin Tumor: A Case Report

Matthias Tallegas
  • Fonction : Auteur
Sylvie Fraitag
  • Fonction : Auteur
Aurélien Binet
Daniel Orbach
  • Fonction : Auteur
Stéphanie Reynaud
  • Fonction : Auteur
Gaëlle Pierron
  • Fonction : Auteur
Marie-Christine Machet
  • Fonction : Auteur

Résumé

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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Dates et versions

hal-03158824 , version 1 (04-03-2021)

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Matthias Tallegas, Sylvie Fraitag, Aurélien Binet, Daniel Orbach, Anne Jourdain, et al.. Novel KHDRBS1-NTRK3 Rearrangement in a Congenital Pediatric CD34-Positive Skin Tumor: A Case Report. Virchows Archiv: An International Journal of Pathology, 2019, 474 (1), pp.111-115. ⟨10.1007/s00428-018-2415-0⟩. ⟨hal-03158824⟩
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