Xie You, Jing Wenyi, Zhao Wei, Peng Ran, Chen Min, Lan Ting, Peng Heng, He Xin, Chen Huijiao, Zhang Zhang, Zhang Hongying
Department of Pathology, West China Hospital, Sichuan University, Chengdu, China.
Department of Pathology, Sichuan Cancer Hospital and Institute, Sichuan Cancer Center, Cancer Hospital Affiliate to School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Front Oncol. 2022 Aug 17;12:949962. doi: 10.3389/fonc.2022.949962. eCollection 2022.
Primary intrathoracic liposarcoma is extremely rare, and most published series lack genetic analyses. The aim of our study is to better understand the clinicopathologic and genetic features of these rare lesions.
Forty-three primary intrathoracic liposarcomas were identified and most cases were analyzed by systematic genetic studies, including fluorescence hybridization (FISH), whole-exome sequencing (WES), and Sanger sequencing.
This series included 27 males and 16 females (ratios, 1.68:1) aged 24-73 years (median, 53 years). Tumors mainly occurred in the mediastinum (n=23, 53.5%), followed by pleural cavity (n=16, 37.2%) and lung (n=4, 9.3%). The study included 21 well-differentiated liposarcomas (WDLs), 19 dedifferentiated liposarcomas (DDLs), 2 myxoid pleomorphic liposarcomas (MPLs) and 1 pleomorphic liposarcoma (PL), without identification of myxoid liposarcoma. FISH analysis identified amplification in 17 of 18 WDLs (94.4%) and all DDLs (16/16, 100.0%). The -nonamplified WDL was -nonamplified but -amplified. WES and Sanger sequencing found somatic mutation in the 2 MPLs. Follow-up information was available for 33 of 38 cases (86.8%). Thirteen patients (39.4%) showed no evidence of disease, 10 patients (30.3%) were alive with disease, and 8 patients (24.2%) died of disease. Fourteen cases developed recurrence and 1 with metastasis.
WDL/DDL was the overwhelming subtype in this location, followed by MPL and PL. Analysis of the gene, in combination with and other genes of 12q13-15, may more precisely characterize WDL/DDLs. MPL is the most fatal subtype of this site. Further studies are needed to explore the role of in the pathogenesis of MPL.
原发性胸内脂肪肉瘤极为罕见，大多数已发表的系列研究缺乏基因分析。我们研究的目的是更好地了解这些罕见病变的临床病理和基因特征。
确定了43例原发性胸内脂肪肉瘤，大多数病例通过系统的基因研究进行分析，包括荧光原位杂交（FISH）、全外显子测序（WES）和桑格测序。
该系列包括27例男性和16例女性（比例为1.68:1），年龄在24至73岁之间（中位数为53岁）。肿瘤主要发生在纵隔（n = 23，53.5%），其次是胸腔（n = 16，37.2%）和肺（n = 4，9.3%）。该研究包括21例高分化脂肪肉瘤（WDL）、19例去分化脂肪肉瘤（DDL）、2例黏液样多形性脂肪肉瘤（MPL）和1例多形性脂肪肉瘤（PL），未发现黏液样脂肪肉瘤。FISH分析在18例WDL中的17例（94.4%）和所有DDL（16/16，100.0%）中发现扩增。未扩增的WDL未扩增但扩增。WES和桑格测序在2例MPL中发现体细胞突变。38例中有33例（86.8%）有随访信息。13例患者（39.4%）无疾病证据，10例患者（30.3%）带瘤存活，8例患者（24.2%）死于疾病。14例发生复发，1例发生转移。
WDL/DDL是该部位最主要的亚型，其次是MPL和PL。对基因的分析，结合12q13 - 15的和其他基因，可能更精确地描述WDL/DDL。MPL是该部位最致命的亚型。需要进一步研究以探索在MPL发病机制中的作用。
