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Recurrent YAP1 and KMT2A Gene Rearrangements in a Subset of MUC4-negative Sclerosing Epithelioid Fibrosarcoma.

MUC4-negative例硬化性上皮样纤维肉瘤亚组中复发性YAP1和KMT2A基因重排。

  • 影响因子:6.06
  • DOI:10.1097/PAS.0000000000001382
  • 作者列表:"Kao YC","Lee JC","Zhang L","Sung YS","Swanson D","Hsieh TH","Liu YR","Agaram NP","Huang HY","Dickson BC","Antonescu CR
  • 发表时间:2020-03-01
Abstract

:Sclerosing epithelioid fibrosarcoma (SEF) is an aggressive soft tissue sarcoma, characterized by a distinctive epithelioid phenotype in a densely sclerotic collagenous stroma, that shows frequent MUC4 immunoreactivity and recurrent gene fusions, often involving EWSR1 gene. A pathogenetic link with low-grade fibromyxoid sarcoma (LGFMS) has been suggested, due to cases with hybrid morphology as well as overlapping genetic signature. However, a small subset of SEF is negative for MUC4 and lacks the canonical EWSR1/FUS gene rearrangements. Triggered by the identification of recurrent YAP1-KMT2A gene fusions by RNA sequencing in 3 index cases of MUC4-negative, EWSR1/FUS fusion-negative SEF, we further investigated a cohort of 14 similar SEF cases (MUC4-negative, EWSR1/FUS fusion-negative) by fluorescence in situ hybridization (FISH), reverse transcription-polymerase chain reaction, and/or DNA-based massively parallel sequencing (MSK-IMPACT) for abnormalities in these genes. Three additional SEFs with KMT2A gene rearrangements and one additional case with YAP1 gene rearrangements were identified by FISH. In addition, one case with YAP1-KMT2A and one with KMT2A-YAP1 fusion were detected by reverse transcription-polymerase chain reaction and MSK-IMPACT, respectively. As a control group, 24 fibromyxoid spindle cell tumors, diagnosed or suspected as fusion-negative LGFMS, were also tested for YAP1 and KMT2A abnormalities by FISH, but none were positive. The YAP1/KMT2A-rearranged SEF group affected patients ranging from 10 to 86 years old (average and median: 45) of both sexes (4 females, 5 males). The tumors involved somatic soft tissues with a wide distribution, including extremities, trunk, neck, and dura. Histologically, the tumors showed variable cellularity, with monotonous ovoid to epithelioid tumor cells and hyalinized collagenous background typical of SEF. More than half of the cases showed infiltrative borders, within fat or skeletal muscle. No LGFMS component was identified. All tumors were negative for MUC4 and had an otherwise nonspecific immunophenotype. Of the 6 cases with available follow-up information, 2 had local recurrences, and 2 developed soft tissue and/or bone metastases, including 1 of them died of the disease.

摘要

: 硬化性上皮样纤维肉瘤 (SEF) 是一种侵袭性软组织肉瘤,其特征是在密集的硬化性胶原基质中具有独特的上皮样表型,表现出频繁的MUC4免疫反应性和复发性基因融合,通常涉及EWSR1基因。由于具有杂交形态以及重叠的遗传特征的病例,已经提出了与低度恶性纤维黏液样肉瘤 (LGFMS) 的发病联系。然而,一小部分SEF对MUC4呈阴性,缺乏典型的EWSR1/FUS基因重排。在YAP1-KMT2A,EWSR1/FUS融合阴性SEF的3个索引病例中,通过RNA测序鉴定复发性MUC4-negative基因融合触发,我们进一步通过荧光原位杂交 (FISH) 研究了14个类似SEF病例 (MUC4-negative,EWSR1/FUS融合阴性) 的队列,逆转录-聚合酶链反应和/或基于DNA的大规模平行测序 (MSK-IMPACT)这些基因的异常。通过FISH鉴定了3个具有KMT2A基因重排的额外sef和1个具有YAP1基因重排的额外病例。此外,通过逆转录-聚合酶链反应和MSK-IMPACT分别检测到1例YAP1-KMT2A和1例KMT2A-YAP1融合。作为对照组,还通过FISH检测了24个被诊断或怀疑为融合阴性LGFMS的纤维黏液样梭形细胞肿瘤的YAP1和KMT2A异常,但均未呈阳性。YAP1/KMT2A-rearranged SEF组影响了10至86岁 (平均和中位数: 45) 的男女患者 (4名女性,5名男性)。肿瘤累及躯体软组织,分布广泛,包括四肢、躯干、颈部和硬脑膜。在组织学上,肿瘤显示可变的细胞结构,具有单调的卵圆形至上皮样肿瘤细胞和典型的SEF的透明胶原背景。超过一半的病例在脂肪或骨骼肌内显示浸润性边界。没有发现LGFMS的组成部分。所有肿瘤的MUC4均为阴性,并且具有非特异性免疫表型。在可获得随访信息的6例中,2例局部复发,2例发生软组织和 (或) 骨转移,其中1例死于该病。

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DOI:10.1007/s00256-019-03264-3
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软组织肿瘤方向

软组织肿瘤是起源于间叶组织位于软组织内的肿瘤。主要是运动系统的软组织(如肌肉、韧带、骨膜、脂肪等)肿瘤。良性者为瘤,恶性者为肉瘤。

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