Virchows Archiv

, Volume 474, Issue 1, pp 111–115 | Cite as

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

  • Matthias Tallegas
  • Sylvie Fraitag
  • Aurélien Binet
  • Daniel Orbach
  • Anne Jourdain
  • Stéphanie Reynaud
  • Gaëlle Pierron
  • Marie-Christine Machet
  • Annabel MaruaniEmail author
Brief Report


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.


Cutaneous Neoplasms Spindle-cell 



The first author and last author (M. Tallegas and A. Maruani) have written the first draft of the manuscript. A. Binet performed the skin samples which were analyzed by MC. Machet and S. Fraitag (histological findings). Molecular findings were performed by G. Pierron and S. Reynaud. Management of the child was organized by A. Jourdain and D. Orbach.

Compliance with ethical standards

The study followed the ethical declaration of Helsinki.

Conflict of interest

The authors declare that they have no conflict of interest.


Each author listed on the manuscript has seen and approved the submission of this version of the manuscript and takes full responsibility for the manuscript.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Matthias Tallegas
    • 1
  • Sylvie Fraitag
    • 2
  • Aurélien Binet
    • 3
  • Daniel Orbach
    • 4
  • Anne Jourdain
    • 5
  • Stéphanie Reynaud
    • 6
  • Gaëlle Pierron
    • 6
  • Marie-Christine Machet
    • 1
    • 8
  • Annabel Maruani
    • 7
    • 8
    • 9
    Email author
  1. 1.Department of PathologyTrousseau Hospital – CHRU ToursToursFrance
  2. 2.Department of PathologyNecker-Enfants Malades HospitalParisFrance
  3. 3.Department of Visceral and Plastic Pediatric SurgeryClocheville Hospital - CHRU ToursToursFrance
  4. 4.SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with cancer), Institute CuriePSL UniversityParisFrance
  5. 5.Department of Pediatric Oncology and HematologyCHU ToursToursFrance
  6. 6.Department of GeneticInstitute CurieParisFrance
  7. 7.Department of DermatologyUnit of Pediatric Dermatology - CHRU ToursToursFrance
  8. 8.Faculty of MedicineUniversity of ToursToursFrance
  9. 9.Department of DermatologyTrousseau Hospital - CHRU ToursTours Cedex 9France

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