GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity
GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity
复制标题
GLI1改变的间质肿瘤：对新兴实体的另外十例的临床病理学和分子分析
作者：
Jiahan Liu;Rongjun Mao;I. Lao;Lin Yu;Q. Bai;Xiaoyan Zhou;Jian Wang
我们报告了另外 10 例 GLI1 改变的间叶性肿瘤，以进一步描述其临床病理学和分子谱。其中男7例，女3例，中位年龄31岁（范围1.3～75岁）。口腔出现五个肿瘤，胃、子宫颈、肘部、腹股沟和大腿各一个。组织学上，除一例外，所有病例均由单形圆形至上皮样细胞组成，显示浸润性多结节生长模式。肿瘤细胞被丰富的毛细血管网络包围。通常存在血管侵入或内皮下突出到血管间隙中。 1个肿瘤发生区域淋巴结转移。其余病例显示主要为梭形细胞肿瘤。通过免疫组织化学，大多数肿瘤显示 CD56 弥漫性染色 (8/8)，并伴有 S100 蛋白的不同表达 (7/8)。在三个含有扩增基因的肿瘤中，观察到 MDM2 (2/3) 和 CDK4 (3/3) 的强烈且弥漫的核染色。下一代测序（NGS）研究显示 7 例中有 GLI1 融合，2 例有 GLI1 扩增，大多数病例通过荧光原位杂交（FISH）分析得到验证。 1例RNA-seq未显示融合基因，但FISH显示GLI1基因扩增和断裂。随访信息显示两名患者局部复发。所有其他患者在最后一次随访时均保持无病状态。我们的研究进一步表明，具有 GLI1 改变的间叶性肿瘤代表了一种独特的临床病理实体。虽然肿瘤有发生在舌头的倾向，但它也可能出现在躯体软组织以及内脏器官中。基于典型的形态学特征和基因组图谱，我们提出术语“GLI1改变的间质肿瘤”来描述这种新兴实体。
We report 10 additional cases of GLI1-altered mesenchymal tumor to further delineate its clinicopathological and molecular spectrum. There were seven males and three females with a median age of 31 years (range 1.3 ~ 75 years). Five tumors arose in the oral cavity, one each in the stomach, uterine cervix, elbow, groin, and thigh. Histologically, all cases except one were composed of monomorphic round to epithelioid cells showing an infiltrative multinodular growth pattern. The neoplastic cells were surrounded by a rich network of capillary vessels. Vessel invasion or subendothelial protrusion into the vascular space was commonly present. One tumor developed regional lymph node metastasis. The remaining case showed a predominantly spindle cell tumor. By immunohistochemistry, most tumors showed diffuse staining of CD56 (8/8) with variable expression of S100 protein (7/8). In three tumors harboring amplified genes, strong and diffuse nuclear staining of MDM2 (2/3) and CDK4 (3/3) were noted. Next-generation sequencing (NGS) studies revealed GLI1 fusions in 7 cases and GLI1 amplification in 2 cases, which were validated by fluorescence in situ hybridization (FISH) analysis in the majority of cases. One case did not show fusion gene by RNA-seq, but FISH revealed both amplification and break-apart of GLI1 gene. Follow-up information showed local recurrences in two patients. All other patients remained disease-free at the last follow-up. Our study further demonstrates that mesenchymal tumors with GLI1 alterations represent a distinctive clinicopathological entity. Although the tumor has a propensity for the tongue, it can also arise in somatic soft tissues as well as in visceral organs. Based on the characteristic morphological features and genomic profiles, we propose the term “GLI1-altered mesenchymal tumor” to describe this emerging entity.
影响因子：
56.9
作者：
KINZLER, KW;BIGNER, SH;VOGELSTEIN, B
通讯作者：
VOGELSTEIN, B
突触结合蛋白 I 的 C2B 结构域的铜和脂质相互作用的 NMR 表征与人酸性成纤维细胞生长因子 (hFGF-1) 的非经典分泌相关。
DOI：
10.1016/j.bbamem.2009.09.024
发表时间：
2010
期刊：
Biochimica et biophysica acta
影响因子：
--
作者：
Kathir,KaruppananMuthusamy;Gao,Li;Rajalingam,Dakshinamurthy;Daily,AnnaE;Brixey,Sherri;Liu,Huimin;Davis,Dan;Adams,Paul;Prudovsky,Igor;Kumar,ThallapuranamKrishnaswamySuresh
通讯作者：
Kumar,ThallapuranamKrishnaswamySuresh