Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.
Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.
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DOI：
10.1186/s13000-016-0474-6
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发表时间：
2016-03-01
影响因子：
2.6
通讯作者：
Fujimoto W
中科院分区：
文献类型：
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作者：
Makino M;Sasaoka S;Nakanishi G;Makino E;Fujimoto W
萎缩型隆突性皮肤纤维肉瘤(DFSP)是DFSP的一种独特形式。在这里，我们报告了一位19岁的女性，她的右胸前有一个小的先天性萎缩斑块。10多年来，病变一直处于萎缩状态。几年前，斑块的一部分变得结节和扩大。体格检查显示右侧胸前有一个25 × 30 mm的红斑萎缩斑块，周围有三个大小不一的坚硬光滑的橙色结节，以及可见的皮下脂肪组织和皮肤静脉。结节和萎缩斑块的活检显示，从真皮到皮下脂肪组织有密集的梭形肿瘤细胞增殖，CD34和Vimentin免疫染色阳性，XIIIA因子和α-平滑肌肌动蛋白染色阴性。肿瘤组织的逆转录聚合酶链式反应(RT-PCR)显示COL1A1-PDGFB融合基因的存在。因此，诊断为先天性萎缩性隆起皮肤纤维肉瘤。核磁共振检查未发现肺部或区域淋巴结转移。局部广泛切除，中厚皮片移植，术后5年8个月无复发和转移。此病例表明先天性萎缩性病变可能代表DFSP的静止期。认识到这种罕见的情况有助于早期诊断，从而改善DFSP的预后。
Atrophic variant of dermatofibrosarcoma protuberans (DFSP) is a distinct form of DFSP. Here, we report the case of a 19-year-old woman with a small congenital atrophic plaque on the right precordium. The lesion remained atrophic for more than 10 years. Several years earlier, a portion of the plaque became tuberous and enlarged. Physical examination revealed a 25 × 30 mm erythematous atrophic plaque surrounded by three hard, smooth, and orange-colored nodules of varying sizes on the right precordium, along with visible subcutaneous adipose tissue and cutaneous veins. Biopsy of the nodule and atrophic plaque revealed dense proliferation of spindle-shaped tumor cells from the dermis to the subcutaneous adipose tissue, and positive immunostaining for CD34 and vimentin in addition to negative staining for factor XIIIa and α-smooth muscle actin. Reverse transcription polymerase chain reaction (RT-PCR) of the tumor tissue revealed the presence of a COL1A1-PDGFB fusion gene. Thus, congenital atrophic dermatofibrosarcoma protuberans was diagnosed. No metastasis to the lungs or regional lymph nodes was found on magnetic resonance imaging. Wide local excision and split-thickness skin grafting was performed and neither recurrence nor metastasis has been observed for 5 years and 8 months since the surgery. This case indicates that a congenital atrophic lesion could represent a quiescent phase of DFSP. Awareness of this rare condition can aid with early diagnosis and thereby improve the prognosis of DFSP.