Novel KHDRBS1-NTRK3 Rearrangement in a Congenital Pediatric CD34-Positive Skin Tumor: A Case Report
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.
Mots clés
Adaptor Proteins
Signal Transducing
Antigens
CD34
Biomarkers
Tumor
Biopsy
Cutaneous
Diagnosis
Differential
DNA-Binding Proteins
Female
Gene Fusion
Gene Rearrangement
Genetic Predisposition to Disease
Humans
Immunohistochemistry
Infant
Magnetic Resonance Imaging
Molecular Diagnostic Techniques
Neoplasms
Phenotype
Predictive Value of Tests
Receptor
trkC
RNA-Binding Proteins
Skin Neoplasms
Spindle-cell