首页 > 期刊杂志 > 正文

A Subset of Malignant Mesotheliomas in Young Adults Are Associated With Recurrent EWSR1/FUS-ATF1 Fusions.

年轻成人恶性间皮瘤一部分于重复性EWSR1/FUS-ATF1融合有关

Desmeules P,Joubert P,Zhang L,Al-Ahmadie HA,Fletcher CD,Vakiani E,Delair DF,Rekhtman N,Ladanyi M,Travis WD,Antonescu CR

Abstract

Malignant mesothelioma (MM) is a rare, aggressive tumor often associated with asbestos exposure and characterized by complex genetic abnormalities, including deletions of chromosome 22. A gene fusion involving EWSR1 and YY1 gene on 14q32 has been reported in 2 patients over the age of 60 with peritoneal MM. However, the incidence of EWSR1 rearrangements in MM and the spectrum of its fusion partners remain unknown. We recently encountered 2 MM cases with EWSR1-ATF1 fusions and sought to investigate the prevalence and clinicopathologic features associated with this abnormality. As both index cases occurred as intra-abdominal tumors in young adults, we searched our files for pleural and peritoneal MM occurring in adults younger than age of 40. All cases were tested by fluorescence in situ hybridization using custom bacterial artificial chromosomes probes for EWSR1, FUS, and ATF1 genes. When available, immunohistochemistry for BAP1 was performed. A total of 25 MM from patients aged 40 or less were screened, either from peritoneum (n=13) or pleura (n=12), with a median age of 31 (range: 7 to 40 y). Two additional ATF1-rearranged tumors were identified at pleural and peritoneal sites with EWSR1 and FUS as fusion partners, respectively, for a total of 4 cases (16%, 4/25). The fusion-positive cases displayed classic epithelioid morphology, immunoreactivity for cytokeratins and WT1, and negativity for S100. BAP1 expression was retained in the 3 fusion-positive cases with available material, and in 80% (12/15) of the fusion-negative cases. Our results expand the spectrum of tumor types harboring EWSR1/FUS-ATF1 gene fusions to include a subgroup of conventional epithelioid MM. Other features of this unique MM subset include young age at presentation, lack of asbestos exposure and retained BAP1 expression.

摘要

恶性间皮瘤(MM)是一种罕见的侵袭性肿瘤,通常与石棉接触相关,具有复杂的遗传学异常,包括22号染色体缺失。目前已报道两例年龄超过60岁的发生在腹膜的MM,具有14q32染色体上EWSR1和YY1基因的融合。然而MM中EWSR1基因重排的发生率及其融合伴侣的谱系仍然未知。作者近期遇到两例MM存在EWSR1-ATF1融合,本文旨在探究与该遗传学异常相关的流行病学及临床病理特征。由于这两例发生在年轻成人腹膜内,因此作者收集年龄小于40岁的、发生在胸膜和腹膜的MM。所有病例均利用常用的细菌人工染色体探针通过荧光原位杂交技术检测EWSR1、FUS和ATF1基因。可进行免疫组化检测的病例进行BAP1检测。25例MM年龄均不超过40岁,发生在腹膜13例,胸膜12例,中位年龄为31岁(范围7-40岁)。另两例发生在胸膜和腹膜具有ATF1基因重排的病例,EWSR1和FUS为其融合伴侣,占总病例数的16%(4/25)。融合阳性的病例显示经典的上皮样形态学,免疫组化阳性表达细胞角蛋白和WT1,而s100蛋白阴性。3例融合阳性病例表达BAP1,融合阴性的病例中80%(12/15)亦表达BAP1。作者的研究表明一部分传统型上皮样MM存在EWSR1/FUS-ATF1基因融合,拓展了该肿瘤类型的遗传学谱系。这组独特的MM亚型,还具有一些其它特征,包括发病年龄轻,缺乏石棉暴露史和表达BAP1。


full text

我要评论

0条评论