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Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast.
- Source :
-
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2018 Sep; Vol. 57 (9), pp. 437-445. Date of Electronic Publication: 2018 Aug 14. - Publication Year :
- 2018
-
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 (Nā=ā63). 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 transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast. An awareness of this variant is important for pathologists, as it will not be detected using conventional reverse transcription polymerase chain reaction or FISH-based diagnostic assays for dermatofibrosarcoma protuberans.<br /> (© 2018 Wiley Periodicals, Inc.)
- Subjects :
- Adult
Biomarkers, Tumor genetics
Breast Neoplasms diagnosis
Breast Neoplasms pathology
Dermatofibrosarcoma diagnosis
Dermatofibrosarcoma pathology
Female
Humans
In Situ Hybridization, Fluorescence methods
Male
Middle Aged
Oncogene Proteins, Fusion genetics
Oncogene Proteins, Fusion isolation & purification
Prognosis
Skin Neoplasms diagnosis
Skin Neoplasms pathology
Translocation, Genetic genetics
Breast Neoplasms genetics
Collagen Type VI genetics
Dermatofibrosarcoma genetics
Lymphokines genetics
Platelet-Derived Growth Factor genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-2264
- Volume :
- 57
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Genes, chromosomes & cancer
- Publication Type :
- Academic Journal
- Accession number :
- 30014607
- Full Text :
- https://doi.org/10.1002/gcc.22663