Genomic alterations of dermatofibrosarcoma protuberans revealed by whole‐genome sequencing

Peng, Cong; Jian, Xingxing; Xie, Yang; Li, Lingfeng; Ouyang, Jian; Tang, Ling; Zhang, Xu; Su, Juan; Liu, Hong; Yin, Mingzhu; Wu, Dan; Wan, Miaojian; Xie, Lu; Chen, Xiang

doi:10.1111/bjd.20976

Cited by 13 publications

(17 citation statements)

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“…In dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma of the skin, the second exon of platelet-derived growth factor β (PDGFβ) was found to be genetically fused to collagen one alpha1 (COL1A1) 111,121 promoting tumor progression. Researchers have also found 122 that SLC2A5-BTBD7 fusions also occur at high frequencies in DFSP (Figure 2 and Table 1). Therefore, exploring gene fusions is a novel potential diagnostic and therapeutic target for this disease.…”

Section: Btbd7: a Tumor Promotermentioning

confidence: 87%

The Role of BTBD7 in Normal Development and Tumor Progression

Liu

Song

et al. 2023

Technol Cancer Res Treat

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BTB/POZ domain-containing protein 7 (BTBD7) has a relative molecular weight of 126KD and contains two conserved BTB/POZ protein sequences. BTBD7 has been shown to play an essential role in normal human development, precancerous lesions, heat-stress response, and tumor progression. BTBD7 promotes branching morphogenesis during development and participates in the salivary gland, lung, and tooth formation. Furthermore, many studies have shown that aberrant expression of BTBD7 promotes heat stress response and the progression of precancerous lesions. BTBD7 has also been found to play an important role in cancer. High expression of BTBD7 affects tumor progression by regulating multiple pathways. Therefore, a complete understanding of BTBD7 is crucial for exploring human development and tumor progression. This paper reviews the research progress of BTBD7, which lays a foundation for the application of BTBD7 in regenerative medicine and as a biomarker for tumor prediction or potential therapeutic target.

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Section: Btbd7: a Tumor Promotermentioning

confidence: 87%

The Role of BTBD7 in Normal Development and Tumor Progression

Liu

Song

et al. 2023

Technol Cancer Res Treat

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“…The fusion protein produced by COL1A1-PDGFB is then processed into mature PDGFB, which interacts with the PDGFB receptor (platelet-derived growth factor receptor-β, PDGFR-β) on the surface of DFSP, leading to dysfunction of PDGF, activation of downstream signaling pathways RAS-MAPK and PI3K-AKT-mTOR, and ultimately promoting the proliferation of DFSP cells [ 17 , 18 ]. Some researchers have conducted large-scale (53 cases) whole-genome sequencing of DFSP for the first time, suggesting that the SLC2A5-BTBD7 fusion gene may be a new potential diagnostic and therapeutic target for DFSP, and detected AKT1 and SPHK1 oncogene amplification and CDKN1A/B gene expression deficiency [ 19 ]. Of course, other rare molecular genetics have also been reported, such as EMILIN2-PDGFD fusion, COL1A2-PDGFB fusion, COL6A3-PDGFD fusion, etc.…”

Section: Discussionmentioning

confidence: 99%

A case report of abdominal metastatic dermatofibrosarcoma protuberans misdiagnosed as gastrointestinal stromal tumor

Deng,

Liu,

Ren

et al. 2024

Diagn Pathol

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Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant soft-tissue tumor that originates from the skin. It has a slow onset in the early stages, non-specific clinical symptoms, low specificity, and can easily be overlooked, missed, or misdiagnosed by clinicians and pathologists. In addition, DFSP is prone to recurrence after local surgical treatment; however, distant metastasis, especially abdominal metastasis, is rare, which is also a challenge for the accurate diagnosis of DFSP when it progresses distantly. Now a case of abdominal metastasis of DFSP is reported. The patient has been treated with imatinib for ten years, and the lesion has shrunk, but because the patient has been receiving imatinib treatment, his abdominal lesion was once misdiagnosed as gastrointestinal stromal tumor. Therefore, we report on this case to enhance the understanding of the diagnosis and treatment of DFSP, and to provide reference for the pathological diagnosis and precise treatment of such patients.

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“…Majority of DFSP have a translocation, t(17;22) (q22;q13), allowing a constitutionally inhibited plateletderived growth factor β (PDGFβ) gene under the activating control of the collagen type 1 α 1 (COL1A1) promoter, resulting in overproduction of the PDGFβ polypeptide and constitutive activation of PDGFβ tyrosine kinase receptor, leading to neoplastic growth 7 . Such genetic signature is best detected through FISH assays and multiplex RTPCR.…”

Section: Discussionmentioning

confidence: 99%

“…The cause of the tumor is unknown, but a chromosomal translocation that produces a fusion protein leading to overproduction of platelet-derived growth factor (PDGF) and upregulation of its receptor has been implicated 7 . Imatinib, either as an adjuvant or neoadjuvant agent to maximal surgical excision and/or radiation therapy, inhibits this receptor.…”

Section: Introductionmentioning

confidence: 99%

Fibrosarcomatous Dermatofibrosarcoma Protuberans of the Head

Gal,

Opinaldo

2023

Preprint

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Objective. This paper highlights the case of a 37-year-old male who presented with a recurrent, exponentially enlarging head mass, emphasizing on the diagnostic and therapeutic challenges associated with a very rare type of tumor, fibrosarcomatous dermatofibrosarcoma protuberans (DFSP) of the head. Case Report. Our patient presented with rapidly growing head mass, initially diagnosed as spindle cell tumor and was managed with surgical excision and skin flap grafting. Follow-up revealed relapse and interval development of hemiparesis and hemisensory loss. MRI revealed tumor recurrence, with compression of the right parietal lobe and superior sagittal sinus. Histopathology revealed stroma with fascicles of spindle cells with homogenous to fibrillar cytoplasm, with oval vesicular nuclei. Immunohistochemical staining showed positivity for CD34and SMA. Oral chemotherapy with imatinib 800 mg/day was started. Follow-up imaging showed marked reduction in the size of the tumor, and resolution of the compression of the underlying brain parenchyma with cystic degeneration and decreased contrast enhancement. Future plans include possible surgical tumor debulking and/or radiation therapy. Conclusion. Although extremely rare, awareness of this tumor, with multi-disciplinary approach to management of the case, are vital to maximize treatment outcomes.

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Genomic alterations of dermatofibrosarcoma protuberans revealed by whole‐genome sequencing

Cited by 13 publications

References 50 publications

The Role of BTBD7 in Normal Development and Tumor Progression

The Role of BTBD7 in Normal Development and Tumor Progression

A case report of abdominal metastatic dermatofibrosarcoma protuberans misdiagnosed as gastrointestinal stromal tumor

Fibrosarcomatous Dermatofibrosarcoma Protuberans of the Head

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