Hu G M, Chen H P, Liu Q Y, Shi X C, Wu H F, Feng Y K, Ren J L, Wang C F
Department of Pathology, the Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450014, China.
Department of Pathology, the Maternal and Child Health Hospital of Zhengzhou, Zhengzhou 450012, China.
Zhonghua Bing Li Xue Za Zhi. 2018 Apr 8;47(4):258-262. doi: 10.3760/cma.j.issn.0529-5807.2018.04.006.
To analyse the clinicopathologic features of gastric plexiform fibromyxoma (PF) including diagnosis, differential diagnosis, immunohistochemistry and molecular pathology. Eight cases of PF were collected from June 2006 to June 2017 at the Second Affiliated Hospital of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University. The clinicopathologic findings of eight cases of PF were retrospectively analyzed, and immunohistochemistry (EnVision method) and molecular detection of glioma-associated oncogene homologue 1 (GLI1) gene translocation were performed. All cases were histologically reviewed with immunohistochemical staining for smooth muscle actin (SMA), CD10, CD117, DOG1, CD34, ER, PR, ALK and S-100. Fluorescence in situ hybridization (FISH) was used to detect the GLI1 gene translocation, and mutation of CKIT exons 9, 11, 13 and 17; and PDGFRA exons 12, 14 and 18 were identified by Sanger sequencing in four cases. Relevant literature was reviewed. The study included four men and four women, age ranged from 26 to 72 years (mean 51 years). Histologically, the tumors were rich in small thin-walled blood vessels and myxoid matrix, and exhibited multiple nodular growth pattern in the gastric wall. The tumor cells were bland, spindled or oval. Immunohistochemically, all cases strongly expressed vimentin and SMA, and some expressed CD10 (4/8), desmin (3/8), H-caldesmon (5/8) and PR (5/8), but were negative for CD34, S-100, ER, ALK, CD117 and DOG1. The GLI1 gene translocation detection was performed in eight cases by FISH with three positive cases and five negative cases. Mutation analyses for exons 9, 11, 13, and 17 of CKIT genes and exons 12, 14, and 18 of the PDGFRA genes were performed and the tumors all of four tested cases were wild-type. Seven patients were followed up (ranged from 24 to 95 months, mean 50 months) after diagnosis and none of the patients had recurrence or metastasis. PF is a rare novel mesenchymal tumor of the stomach. Its distinct clinicopathologic features and immunohistochemical positivity for SMA, CD10 and PR can help differentiating this entity from other gastrointestinal mesenchymal tumors. FISH detection of GLI1 gene translocation offers an additional molecular diagnostic marker for the diagnosis.
分析胃丛状纤维黏液瘤（PF）的临床病理特征，包括诊断、鉴别诊断、免疫组化及分子病理学。2006年6月至2017年6月，从郑州大学第二附属医院和郑州大学第一附属医院收集8例PF病例。回顾性分析8例PF的临床病理表现，并进行免疫组化（EnVision法）及胶质瘤相关癌基因同源物1（GLI1）基因易位的分子检测。所有病例均进行组织学复查，采用免疫组化染色检测平滑肌肌动蛋白（SMA）、CD10、CD117、DOG1、CD34、雌激素受体（ER）、孕激素受体（PR）、间变性淋巴瘤激酶（ALK）和S-100。采用荧光原位杂交（FISH）检测GLI1基因易位，4例采用桑格测序法检测CKIT基因第9、11、13和17外显子以及血小板衍生生长因子受体α（PDGFRA）基因第12、14和18外显子的突变情况。查阅相关文献。该研究纳入4例男性和4例女性，年龄26至72岁（平均51岁）。组织学上，肿瘤富含小薄壁血管和黏液样基质，在胃壁呈多结节生长模式。肿瘤细胞温和，呈梭形或椭圆形。免疫组化方面，所有病例均强烈表达波形蛋白和SMA，部分病例表达CD10（4/8）、结蛋白（3/8）、H-钙调蛋白（5/8）和PR（5/8），但CD34、S-100、ER、ALK、CD117和DOG1均为阴性。8例病例采用FISH检测GLI1基因易位，3例阳性，5例阴性。对CKIT基因第9、11、13和17外显子以及PDGFRA基因第12、14和18外显子进行突变分析，4例检测病例的肿瘤均为野生型。7例患者诊断后进行随访（随访时间24至95个月，平均50个月），均无复发或转移。PF是一种罕见的胃新型间叶性肿瘤。其独特的临床病理特征以及对SMA、CD10和PR的免疫组化阳性有助于将该实体与其他胃肠道间叶性肿瘤相鉴别。FISH检测GLI1基因易位为诊断提供了额外的分子诊断标志物。
