Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans
Fluorescence in situ hybridization analysis is a helpful test for the diagnosis of dermatofibrosarcoma protuberans
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DOI：
10.1038/modpathol.2014.97
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发表时间：
2015-02-01
期刊：
影响因子：
7.5
通讯作者：
Neuville, Agnes
中科院分区：
文献类型：
--
作者：
Karanian, Marie;Perot, Gaelle;Neuville, Agnes
细胞遗传学上，大多数皮肤纤维肉瘤的特征是染色体重排导致胶原-1 α 1型(COL1A1)-血小板衍生生长因子β (PDGFB)融合基因。这种异常可以通过荧光原位杂交（FISH）分析在常规实践中检测到。本研究的目的是评估FISH分析在诊断隆突性皮肤纤维肉瘤中的作用。前瞻性和系统性地对448例连续肿瘤标本进行FISH分析。所有病例由两名独立的病理学家审查，并根据分子分析前DFSP诊断的概率分为三类。当隆突性皮肤纤维肉瘤是唯一可能的诊断时，病例被分类为确定。对于第一诊断为隆突性皮肤纤维肉瘤，但存在其他鉴别诊断的病例，认为是可能的。当隆突性皮肤纤维肉瘤被认为是一种鉴别诊断时，他们被标记为可能的。临床病理结果和FISH分析结果支持最终诊断。系统地进行CD34的免疫组织化学分析，必要时进行额外的标记。排除了无法解释FISH的病例（n=37）。在185例肿瘤标本中：178例（96%）FISH分析显示PDGFB/COL1A1重排，7例（4%）为阴性。在114例可能的肿瘤标本中：104例（91%）FISH分析阳性，10例（9%）阴性，导致8例的新诊断。在112例可能病例中：91例（81%）FISH分析为阴性，21例（19%）为阳性。21例中，初诊包括未分类肉瘤、黏液纤维肉瘤、皮肤纤维瘤、反应性病变、孤立性纤维瘤、神经鞘瘤、良性神经鞘瘤、无恶性证据的未分化梭形细胞瘤。FISH分析有助于25%（104/411）的皮肤纤维肉瘤的确诊，对5%（21/411）的皮肤纤维肉瘤的诊断是必要的。
Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene. This abnormality can be detected by fluorescence in situ hybridization (FISH) analysis in routine practice. The aim of this study was to evaluate the role of the FISH analysis in the diagnosis of dermatofibrosarcoma protuberans. A FISH analysis was prospectively and systematically performed on a series of 448 consecutive tumor specimens. All cases were reviewed by two independent pathologists and classified in three categories according to the probability of a DFSP diagnosis before molecular analyses. Cases were classified as certain when dermatofibrosarcoma protuberans was the only possible diagnosis. Those cases for which dermatofibrosarcoma protuberans remained the first diagnosis, but other differential diagnosis existed, were regarded as probable. When dermatofibrosarcoma protuberans was considered a differential diagnosis, they were labeled as possible. The final diagnosis was supported by clinicopathological findings and results of FISH analyses. lmmunohistochemical analysis of CD34 was systematically performed, and additional markers when necessary. The cases (n=37) with a non-interpretable FISH were excluded. For the 185 certain tumors specimens: 178 (96%) FISH analyses showed a PDGFB/COL1A1 rearrangement, 7 (4%) were negative. For the 114 probable tumors specimens: 104(91%) FISH analyses were positive and 10(9%) were negative leading to a new diagnosis in 8 cases. For the 112 possible cases: 91(81%) FISH analyses were negative and 21(19%) were positive. Of the 21 cases, initial diagnoses included unclassified sarcoma, myxofibrosarcoma, dermatofibroma, reactive lesion, solitary fibrous tumor, perineurioma, benign nerve sheath tumor, and undifferentiated spindle cell tumor without malignant evidence. FISH analysis has been helpful for confirming the diagnosis of dermatofibrosarcoma protuberans in 25% (104/411) of cases and necessary for the diagnosis of dermatofibrosarcoma protuberans in 5% (21/411) of cases.