Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion.
Virchows Arch
; 481(2): 313-319, 2022 Aug.
Article
em En
| MEDLINE
| ID: mdl-35171326
ABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is characterized by collagen type I alpha 1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusion. We present a case of fibrosarcomatous DFSP with lung metastasis in a 53-year-old man. Histologically, the primary and metastatic tumors were composed of high-grade fibrosarcomatous component with varying myxoid changes, while only a small focus of the classic DFSP element was identified in the primary lesion. No evidence of COL1A1-PDGFB fusion was identified by routine fluorescence in situ hybridization (FISH). Subsequent next-generation sequencing and COL1A1 break-apart FISH identified the fusion. In addition, coamplification of 12q15 and 12p13, along with CDKN2A/2B deletion, was confirmed to be limited to the fibrosarcomatous component. The current case is a novel FS-DFSP with cryptic COL1A1-PDGFB fusion. This is the first published example of DFSP harboring coamplification of 12q and 12p sequences. More importantly, the genetic aberrations restricted to the fibrosarcomatous component indicated a synergistic role of higher-grade progression.
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MEDLINE
Assunto principal:
Neoplasias Cutâneas
/
Dermatofibrossarcoma
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article