Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast

Genes, Chromosomes & Cancer
Brendan C DicksonCristina R Antonescu

Abstract

Dermatofibrosarcoma protuberans is a locally aggressive superficial mesenchymal neoplasm. It typically occurs in adulthood, and has been reported to have a slight male predilection. Tumors have a characteristic histopathologic appearance, including: storiform architecture, infiltrative "honeycomb" growth within subcutaneous adipose tissue, and immunoreactivity for CD34. Virtually all molecularly characterized cases to date have been found to harbor a COL1A1-PDGFB fusion product. Following identification of an index patient with a novel COL6A3-PDGFD fusion gene, we undertook a molecular investigation, using a combination of RNA sequencing and fluorescence in situ hybridization (FISH), to assess the prevalence of PDGFD rearrangement in dermatofibrosarcoma protuberans (N = 63). Three additional patients were found to have balanced PDGFD rearrangements. Interestingly, all 4 tumors arose on the breast of females. As a result, we subsequently examined 16 additional cases of primary breast dermatofibrosarcoma protuberans, identifying 2 additional tumors with PDGFD rearrangement. The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous tra...Continue Reading

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Citations

Oct 24, 2018·Genes, Chromosomes & Cancer·Brendan C Dickson, David Swanson
Dec 7, 2018·The American Journal of Surgical Pathology·Fumito YamazakiAkihiko Yoshida
Mar 29, 2019·Genes, Chromosomes & Cancer·Albert J H SuurmeijerCristina R Antonescu
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Dec 28, 2021·Histopathology·Jessica L DavisLea F Surrey

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