Exploring the Histogenesis and Diagnostic Strategy Using Immunoassay and RT-PCR in Alveolar Soft Part Sarcoma
Exploring the Histogenesis and Diagnostic Strategy Using Immunoassay and RT-PCR in Alveolar Soft Part Sarcoma
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利用免疫分析和 RT-PCR 探索腺泡软组织肉瘤的组织发生和诊断策略
DOI：
10.1007/s12253-017-0280-9
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发表时间：
2018-07-01
影响因子：
2.8
通讯作者：
Li, Feng
中科院分区：
文献类型：
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作者：
Ju, Xinxin;Sun, Kunming;Li, Feng
腺泡状软组织肉瘤（ASPS）是一种罕见的软组织肉瘤，但在罕见的部位容易误诊。ASPS的起源尚不清楚，因此我们进行了这项研究，通过分析干细胞标志物（ALDH 1，CD 29，CD 133和Nestin）来探讨ASPS的组织发生。通过石蜡切片检测TFE 3蛋白和融合基因ASPS-TFE 3的表达，探讨TFE 3蛋白的诊断策略和分子病理学特征。在这项研究中，9例ASPS与干细胞表面标志物（ALDH 1，CD 29，CD 133和Nestin）和蛋白TFE 3免疫染色。从9例石蜡包埋组织中成功提取了7例ASPS mRNA。逆转录-聚合酶链反应检测融合基因ASPL-TFE 3的表达。免疫组化染色显示9例患者CD 29和Nestin均为阴性（0/9）。CD 133弱阳性1例（1/9），ALDH 1弱阳性1例（1/9）。TFE 3阳性9例（9/9）。在9例病例中，7例石蜡组织可成功提取mRNA。逆转录聚合酶链反应（RT-PCR）结果显示，7例患者（4例为2型，3例为1型）均检测到ASPL-TFE 3融合基因。ASPS中CD 133和ALDH 1的阳性表达率均小于1%，CD 29和Nestin均为阴性表达。免疫组化结果提示ASPS的组织发生可能不是来源于间充质干细胞。免疫组化结果显示TFE 3蛋白在ASPS中的表达高度敏感。RT-PCR结果显示ASPL-TFE 3融合基因（ASPL-TFE 3 type 1和ASPL-TFE 3 type 2）在ASPS中表达，为临床分子病理诊断提供信息，提高罕见不典型ASPS的诊断率。
Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma, but it's easily misdiagnosed in rare locations. The derivation of ASPS is still uncertain, therefore we conducted this study to explore the histogenesis of ASPS by analyzing stem cell markers (ALDH1, CD29, CD133 and Nestin). Protein TFE3 and fusion gene ASPS-TFE3 were tested in paraffin to explore diagnostic strategy and molecular pathological features. In this study, nine cases of ASPS were immunostained with stem cell surface markers (ALDH1, CD29, CD133 and Nestin) and protein TFE3. Seven cases of ASPS mRNA were successfully extracted from nine paraffin-embedded tissues. The expression of fusion gene ASPL-TFE3 was examined by reverse transcriptase-polymerase chain reaction. The immunohistochemical staining of nine patients showed that CD29 and Nestin were negative in all nine cases (0/9). CD133 was weakly positive in one cases (1/9) and ALDH1 was weakly positive in one cases (1/9). TFE3 was positive in nine cases (9/9). Seven paraffin tissues could be successfully extracted with mRNA in nine cases. The results of Reverse Transcription Polymerase Chain Reaction (RT-PCR) showed that ASPL-TFE3 fusion transcripts could be tested in the seven cases (four cases being type 2 and three cases being type 1). The positive rate of CD133 and ALDH1 were less than 1% and the expression of CD29 and Nestin were negative in ASPS. Immunohistochemistry results indicated that the histogenesis of ASPS maybe not derive from mesenchymal stem cells. Immunohistochemistry staining showed that TFE3 protein expression was highly sensitive in ASPS. Furthermore, RT-PCR results showed that fusion gene ASPL-TFE3 (ASPL-TFE3 type 1 and ASPL-TFE3 type 2) was expressed in ASPS, which could provide information for clinical molecular pathological diagnosis and improve the diagnosis rate of rare atypical ASPS.