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A novel aberration of COL1A1 ‐ PDGFB fusion as an insertion in chromosome 15 in one case of dermatofibrosarcoma protuberans involving a rare location
Author(s) -
Daoud Alexander,
Cunningham Christopher R.,
Kozel Jessica A.,
Slutsky Jordan B.,
Varade Reena,
Batanian Jacqueline R.
Publication year - 2021
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13770
Subject(s) - dermatofibrosarcoma protuberans , pdgfb , chromosomal translocation , fluorescence in situ hybridization , karyotype , ring chromosome , comparative genomic hybridization , pathology , biology , chromosome , medicine , genetics , gene , receptor , platelet derived growth factor receptor , growth factor
Dermatofibrosarcoma protuberans (DFSP) is a rare sarcoma of the skin arising from the dermis. Its location is most commonly presented on the trunk of middle‐aged adults and rarely on the face. The characteristic genetic aberration in the form of a reciprocal translocation t(17;22)(q21;q13) or a ring fusing the COL1A1 and PDGFB genes is found in 90% of DFSP. We present a case of a 42‐year‐old man who presented with a DFSP on the left cheek with foci of myxoid‐fibrosarcomatous transformation. A conventional chromosomal analysis revealed a complex karyotype without a supernumerary ring chromosome or a linear translocation t(17;22). Comparative genome hybridization and fluorescence in‐situ hybridization revealed the fusion of COL1A1 and PDGFB probes inserted in chromosome 15. This is a unique case of DFSP characterized by a rare body location, unique histopathological features, and novel chromosome COL1A1 ‐ PDGFB insertion, and may help guide future diagnostic and patient care modalities.