Superficial sarcomas with CIC rearrangement are aggressive neoplasms: A series of eight cases
Superficial sarcomas with CIC rearrangement are aggressive neoplasms: A series of eight cases
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DOI：
10.1111/cup.13656
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发表时间：
2020-02-18
影响因子：
1.7
通讯作者：
Billings, Steven D.
中科院分区：
文献类型：
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作者：
Ko, Jennifer S.;Marusic, Zlatko;Billings, Steven D.
CIC重排肉瘤与尤文氏肉瘤有明显重叠，侵袭性强，通常发生在深部软组织。最常见的是t（4;19）（q35;q13）与CIC-DUX 4融合。浅表表现是罕见的。我们报告了8例（6名女性，2名男性;平均年龄45岁，范围14-65）浅表CIC重排肉瘤，累及四肢（n = 4），外阴（n = 2）和躯干（n = 2）。肿瘤由结节/片状圆形细胞组成，坏死和出血由致密的透明带分隔。肿瘤细胞染色质呈泡状，核仁突出，核分裂象频繁。其中一个显示pagetoid扩散。靶向新一代测序结果为CIC-DUX 4融合阳性（6/6）;荧光原位杂交（FISH）结果为CIC重排阳性（2/3）。八个有证据的CIC-DUX 4融合/重排的分子技术。免疫组化CD 99+（8/8）和DUX 4+（4/4）阳性。FISH检测EWSR 1重排为阴性（5/5）。在至少随访6个月的5例患者中，3/5例死于疾病，均在发病后2年内死亡。一个人在48个月时患有疾病。三个月内无病。如果表现出尤文肉瘤的特征，但多形性增多和/或地图样坏死，则应考虑浅表CIC重排肉瘤。与浅表性尤文肉瘤相反，浅表性CIC重排肉瘤具有侵袭性。
CIC rearranged sarcomas have significant overlap with Ewing sarcoma, are aggressive, and typically present in deep soft tissue. They most commonly have a t(4;19)(q35;q13) with CIC-DUX4 fusion. Superficial presentation is rare. We report eight (6F, 2M; median 45-years-old, range 14-65) superficial CIC-rearranged sarcomas, involving the extremities (n = 4), vulva (n = 2), and trunk (n = 2). The tumors were composed of nodules/sheets of round cells with necrosis and hemorrhage separated by dense hyaline bands. Tumor cells had vesicular chromatin, prominent nucleoli and frequent mitotic figures. One showed pagetoid spread. Targeted next-generation sequencing was positive for CIC-DUX4 fusion (6/6); fluorescence in situ hybridization (FISH) was positive for CIC rearrangement (2/3). Eight of eight had evidence of CIC-DUX4 fusion/rearrangement by molecular techniques. Immunohistochemistry was positive for CD99+ (8/8) and DUX4+ (4/4). FISH for EWSR1 rearrangement was negative (5/5). Of five patients with at least 6 months follow-up, three of five died of disease, all within 2 years of presentation. One is alive with disease at 48 months. One is disease free at 3 months. Superficial CIC-rearranged sarcomas should be considered in cases exhibiting features reminiscent of Ewing sarcoma, but with increased pleomorphism and/or geographic necrosis. In contrast to superficial Ewing sarcomas, superficial CIC-rearranged sarcomas are aggressive.