ArticleVirchows Archiv : an international journal of pathology2022
Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion.
Article in Virchows Archiv : an international journal of pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Hotspots and future trends of dermatofibrosarcoma protuberans.Frontiers in oncology · 2024Pooled it
- Pediatric dermatofibrosarcoma protuberans: A clinicopathologic and genetic analysis of 66 cases in the largest institution in Southwest China.Frontiers in oncology · 2023Article
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Authors and funding
7 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.