Llombart Beatriz, Sanmartín Onofre, López-Guerrero Jose Antonio, Monteagudo Carlos, Serra Carlos, Requena Celia, Poveda Andrés, Vistós Juan Luis, Almenar Sergio, Llombart-Bosch Antonio, Guillén Carlos
Department of Dermatology, University of Valencia, Valencia, Spain.
Histopathology. 2009 Jun;54(7):860-72. doi: 10.1111/j.1365-2559.2009.03310.x.
To analyse the presence of collagen type I alpha 1-platelet-derived growth factor beta (COL1A1-PDGFB) transcripts in 20 cases of dermatofibrosarcoma protuberans (DFSP) and to assess the relationship between COL1A1 breakpoints and clinical and histopathological variables.
Multiplex reverse transcriptase-polymerase chain reaction was carried out using frozen tissue. Our series contained 14 men and six women. Histologically, most cases were of conventional type (n = 9), followed by fibrosarcoma (n = 4), Bednar tumour (n = 2), sclerosing (n = 2), myoid (n = 1) and atrophic (n = 1) DFSP, and giant cell fibroblastoma (n = 1). Immunohistochemistry revealed CD34 expression in 90% of cases. COL1A1-PDGFB fusion transcripts were present in 89% of cases (exons 18, 19, 20, 25, 26, 31, 33/34, 39, 40, 46, 47 and 48 of COL1A1 with exon 2 of PDGFB). There was no recurrence of DFSP in any of the 19 patients treated by Mohs surgery. A partial response was obtained in the two patients treated with imatinib.
The COL1A1-PDGFB fusion was present in all histological subtypes of DFSP, but not all cases expressed the fusion transcript. No association was observed between different COL1A1 breakpoints and clinicopathological parameters. Imatinib mesylate can be useful in locally advanced tumours and metastases.
分析20例隆突性皮肤纤维肉瘤（DFSP）中I型胶原蛋白α1-血小板衍生生长因子β（COL1A1-PDGFB）转录本的存在情况，并评估COL1A1断点与临床和组织病理学变量之间的关系。
使用冷冻组织进行多重逆转录聚合酶链反应。我们的病例系列包括14名男性和6名女性。组织学上，大多数病例为传统型（n = 9），其次是纤维肉瘤（n = 4）、贝德纳瘤（n = 2）、硬化型（n = 2）、肌样型（n = 1）、萎缩型（n = 1）DFSP以及巨细胞纤维母细胞瘤（n = 1）。免疫组化显示90%的病例中有CD34表达。89%的病例中存在COL1A1-PDGFB融合转录本（COL1A1的外显子18、19、20、25、26、31、33/34、39、40、46、47和48与PDGFB的外显子2融合）。19例接受莫氏手术治疗的患者中无一例DFSP复发。两名接受伊马替尼治疗的患者获得了部分缓解。
COL1A1-PDGFB融合存在于DFSP的所有组织学亚型中，但并非所有病例都表达融合转录本。未观察到不同的COL1A1断点与临床病理参数之间存在关联。甲磺酸伊马替尼可用于局部晚期肿瘤和转移瘤。
