Dermatofibrosarcoma Protuberans (DFSP): Diagnostics and Molecular Pathology.

IF 4.7 2区 医学 Q2 ONCOLOGY
Piotr Remiszewski, Joanna Taczała, Marcin Rosiński, Anna Szumera-Ciećkiewcz, Bartłomiej Szostakowski, Anna M Czarnecka
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引用次数: 0

Abstract

Opinion statement: Dermatofibrosarcoma protuberans (DFSP) is a rare, low-grade mesenchymal neoplasm that arises in the dermis and subcutaneous tissue. Clinically, DFSP presents as a slow-growing cutaneous plaque or nodular mass that is often initially mistaken for a benign dermatological condition, such as a keloid, a dermatofibroma or morphea. Due to its local aggressiveness and proclivity for subclinical spread and recurrence, accurate diagnosis and complete surgical excision are critical. Although DFSP rarely metastasises, its morbidity primarily stems from locally invasive growth and potential disfigurement due to extensive resections. The pathognomonic COL1A1-PDGFB fusion, which can be detected using fluorescence in situ hybridisation (FISH) or reverse transcription polymerase chain reaction (RT-PCR), sustains autocrine PDGFRβ activation and can be used as a diagnostic marker and a target for the drug imatinib. Emerging genomic studies have revealed additional fusions, such as COL1A2-PDGFB and FBN1-CSAD, as well as mutations, such as CDKN2A/B deletions, that correlate with more aggressive, fibrosarcomatous (FS) variant. We reviewed the diagnostics of DFSP, including histopathology, immunohistochemistry (e.g. CD34, factor XIIIa, S100 and PRAME) as well as clinical presentation and recommended imaging modalities (e.g. ultrasound, MRI and PET/CT). To provide a better understanding of DFSP we discussed the molecular basis of DFSP, including the main genetic drivers and downstream signalling pathways, such as Ras-MAPK, PI3K-Akt and FGFR. Moreover, as there is no definitive staging system for DFSP, we proposed a novel one, integrating the presence of FS differentiation.

隆突性皮肤纤维肉瘤(DFSP):诊断和分子病理学。
观点声明:隆突性皮肤纤维肉瘤(DFSP)是一种罕见的低级别间充质肿瘤,发生在真皮和皮下组织。临床上,DFSP表现为生长缓慢的皮肤斑块或结节状肿块,最初常被误认为是良性皮肤病,如瘢痕疙瘩、皮肤纤维瘤或斑疹。由于其局部侵袭性和亚临床扩散和复发倾向,准确的诊断和完全的手术切除是至关重要的。虽然DFSP很少转移,但其发病率主要源于局部侵袭性生长和大面积切除导致的潜在毁容。特异的COL1A1-PDGFB融合可以通过荧光原位杂交(FISH)或逆转录聚合酶链反应(RT-PCR)检测,维持自分泌PDGFRβ激活,可以用作诊断标志物和药物伊马替尼的靶标。新兴的基因组研究揭示了更多的融合,如COL1A2-PDGFB和FBN1-CSAD,以及突变,如CDKN2A/B缺失,与更具侵袭性的纤维肉瘤(FS)变体相关。我们回顾了DFSP的诊断,包括组织病理学,免疫组织化学(如CD34,因子XIIIa, S100和PRAME)以及临床表现和推荐的成像方式(如超声,MRI和PET/CT)。为了更好地理解DFSP,我们讨论了DFSP的分子基础,包括主要的遗传驱动因素和下游信号通路,如Ras-MAPK、PI3K-Akt和FGFR。此外,由于没有明确的DFSP分期系统,我们提出了一个新的分期系统,整合了FS分化的存在。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.10
自引率
0.00%
发文量
113
审稿时长
>12 weeks
期刊介绍: This journal aims to review the most important, recently published treatment option advances in the field of oncology. By providing clear, insightful, balanced contributions by international experts, the journal intends to facilitate worldwide approaches to cancer treatment. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as endocrine tumors, lymphomas, neuro-oncology, and cancers of the breast, head and neck, lung, skin, gastrointestinal tract, and genitourinary region. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. We also provide commentaries from well-known oncologists, and an international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research.
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