Wang Wei-Lien, Patel Kayuri U, Coleman Neil M, Smith-Zagone Megan J, Ivan Doina, Reed Jon A, López-Terrada Dolores, Lazar Alexander J F, Prieto Victor G
Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, USA.
Am J Dermatopathol. 2010 Apr;32(2):149-53. doi: 10.1097/DAD.0b013e3181b0b876.
Indeterminate fibrohistiocytic lesions of the skin share histological and immunohistochemical features of both benign fibrous histiocytoma/dermatofibroma and dermatofibrosarcoma protuberans (DFSP). Unlike dermatofibroma, DFSP harbors recurrent genetic aberrations resulting in the fusion of COL1A1 on chromosome 17 and PDGFB on chromosome 22. Because indeterminate fibrohistiocytic lesions share some features with DFSP, they were evaluated for the possible presence of COL1A1-PDGFB chimeric transcripts. Twelve formalin-fixed paraffin-embedded cases were examined for COL1A1-PDGFB chimeric transcripts using a previously validated sensitive multiplex reverse transcriptase-polymerase chain reaction assay. The median patient age was 52.5 years (33-70 years) with 9 females and 3 males. The most common site was the extremities (n = 8) followed by the trunk (n = 2) and the head and neck region (n = 2). All demonstrated the expected reactivity for both CD34 and factor XIIIa, and the majority focally infiltrated into subcutaneous fat. Of the 6 patients with follow-up, 2 had residual tumor excised, but no patient developed a recurrence. None of the tumors harbored COL1A1-PDGFB fusion transcripts identified by reverse transcriptase-polymerase chain reaction. Although indeterminate fibrohistiocytic lesions share some features with DFSP, the lack of COL1A1-PDGFB chimeric transcripts suggests that they are distinct entities.
皮肤的不典型纤维组织细胞性病变具有良性纤维组织细胞瘤/皮肤纤维瘤和隆突性皮肤纤维肉瘤（DFSP）的组织学及免疫组化特征。与皮肤纤维瘤不同，DFSP存在复发性基因畸变，导致17号染色体上的COL1A1与22号染色体上的PDGFB融合。由于不典型纤维组织细胞性病变与DFSP有一些共同特征，因此对其进行了COL1A1 - PDGFB嵌合转录本的检测。使用先前验证的灵敏多重逆转录酶 - 聚合酶链反应分析法，对12例福尔马林固定石蜡包埋病例检测COL1A1 - PDGFB嵌合转录本。患者中位年龄为52.5岁（33 - 70岁），女性9例，男性3例。最常见部位为四肢（n = 8），其次为躯干（n = 2）和头颈部（n = 2）。所有病例CD34和因子ⅩⅢa均呈预期反应，多数病例局灶性浸润至皮下脂肪。6例有随访的患者中，2例切除了残留肿瘤，但无患者复发。逆转录酶 - 聚合酶链反应未检测到任何肿瘤存在COL1A1 - PDGFB融合转录本。尽管不典型纤维组织细胞性病变与DFSP有一些共同特征，但缺乏COL1A1 - PDGFB嵌合转录本提示它们是不同的实体。
