A Novel Chromosomal Translocation Associated With<i>COL1A2</i>-<i>PDGFB</i>Gene Fusion in Dermatofibrosarcoma Protuberans

Nakamura, Ippei; Kariya, Yoshiyuki; Okada, Etsuko; Yasuda, Masahito; Matori, Shigetaka; Ishikawa, Osamu; Uezato, Hiroshi; Takahashi, Keiichi

doi:10.1001/jamadermatol.2015.2389

Cited by 44 publications

(41 citation statements)

References 22 publications

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“…Ultimately the COL1A1‐PDGFB fusion gene was cloned, which fairly consistently pairs exon 2 of PDGFB with numerous potential exons of COL1A1 . This fusion product has been identified in 85%‐96% of cases . The incidence appears to increase with the application of more sensitive detection assays; nevertheless, this still implies that a subset of cases may have an alternate fusion gene.…”

Section: Discussionmentioning

confidence: 99%

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

Dickson

Hornick

Fletcher

et al. 2018

Genes Chromosomes & Cancer

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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 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.

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Section: Discussionmentioning

confidence: 99%

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

Dickson

Hornick

Fletcher

et al. 2018

Genes Chromosomes & Cancer

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“…Studies revealed that in over nine‐tenths DFSP cases, a translocation between chromosomes 17 and 22 [t(17;22)(q22;q13)] can be found, which induces the formation of a fusion gene between COL1A1 and PDGFB genes, leading to the overexpression of platelet‐derived growth factor receptor β (PDGFRB) . It is well‐established that platelet‐derived growth factor (PDGF) signaling pathways play crucial roles in many physiological and pathological processes, such as stimulating the proliferation of multiple cells, stimulating collagen synthesis, and promoting tissue fibrosis, etc.…”

Section: Discussionmentioning

confidence: 99%

“…The histological origin and pathogenesis of DFSP are not yet fully understood. Molecular analysis has revealed a translocation between chromosomes 17 and 22 [t(17;22)(q22;q13)] in most DFSP cases, which provides a new adjuvant therapeutic option for this tumor. Yet so far, surgical resection remains the optimal curative treatment for DFSP.…”

Section: Introductionmentioning

confidence: 99%

Hormone receptors analysis in Chinese patients with dermatofibrosarcoma protuberans

Tian

Shi

et al. 2018

Journal of Surgical Oncology

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“…While the reason for this is not known. In addition to CD34, recent studies demonstrated that the analyses of PDGFβ and nestin expression were also effective for pathological diagnosis of DFSP 16, 17. Unfortunately, none of these markers are specific and are not sufficient to distinguish DFSP from other types of cutaneous tumors as alone.…”

Section: Discussionmentioning

confidence: 99%

Clinical Features, Pathological Findings and Treatment of Recurrent Dermatofibrosarcoma Protuberans

Xiang

Chen

et al. 2017

J. Cancer

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Dermatofibrosarcoma protuberans (DESP) is a relatively rare and low-grade tumor of the skin and soft tissue. We review the clinical features, pathological findings and management of recurrent DESP with the aim to improve our understanding of this rare tumor. Fifty-seven patients were diagnosed with recurrent DFSP. The mean age at the presentation of DFSP was 30.9 years. The mean age at diagnosis of DFSP was 40.2 years. Chest wall was the dominant location. The histopathological diagnosis was ordinary DFSP (O-DFSP) in 46 cases and fibrosarcomatous DFSP (FS-DFSP) in 11 cases. No differences were noted between FS-DFSP and conventional DFSP in age at presentation and diagnosis, tumor size, as well as CD34 and SMA expression (P > 0.05). However, the time course to recurrence in FS-DFSP group was less than that in O-DFSP group (P = 0.038). All of the patients were treated with Mohs micrographic surgery (MMS). On follow-up, none of the patients had tumor recurrence. Our data demonstrated that the clinical features of recurrent DFSP are non-specific and variable. Our current practice suggests that MMS is very useful treatment choice for recurrent DFSP.

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A Novel Chromosomal Translocation Associated WithCOL1A2-PDGFBGene Fusion in Dermatofibrosarcoma Protuberans

Cited by 44 publications

References 22 publications

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

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

Hormone receptors analysis in Chinese patients with dermatofibrosarcoma protuberans

Clinical Features, Pathological Findings and Treatment of Recurrent Dermatofibrosarcoma Protuberans

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