A case of vasculogenic mesenchymal tumor in the mediastinum: whole-exome sequencing reveals origin from pre-existing germ cell tumor
A case of vasculogenic mesenchymal tumor in the mediastinum: whole-exome sequencing reveals origin from pre-existing germ cell tumor
复制标题
纵隔血管源性间质肿瘤一例：全外显子组测序揭示起源于先前存在的生殖细胞肿瘤
DOI：
10.1007/s00428-023-03529-2
复制
发表时间：
2023
期刊：
影响因子：
3.5
通讯作者：
Haga Hironori
中科院分区：
文献类型：
--
作者：
Fujii Hirotake;Yamada Yosuke;Yamamura Kentaro;Ishida Yoshihiro;Tsujimura Marina;Matsumoto Kazuhisa;Tanaka Satona;Date Hiroshi;Nishikawa Tadaaki;Yoshida Yukihiro;Kashima Jumpei;Yatabe Yasushi;Ogawa Seishi;Marx Alexander;Ulbright Thomas M.;Haga Hironori
血管源性间叶肿瘤（VMT）是一种富含各种大小非典型血管的原始间叶肿瘤，是化疗后在具有卵黄囊肿瘤（YST）成分的纵隔生殖细胞肿瘤（GCT）中发展的新实体。值得注意的是，残余 GCT 中存在 VMT 的患者患肉瘤或造血系统恶性肿瘤的风险增加。在这里，我们报告了一名晚期青少年男性患者，在接受纵隔混合 GCT（包括 YST）化疗后出现残留畸胎瘤和高级别 VMT。全外显子组测序揭示了 TP53 的双等位基因失活和广泛的拷贝数改变，表明全基因组加倍。化疗前混合 GCT 的活检组织表现出与 VMT 中重叠的基因改变。 VMT 的免疫组织化学分析显示，异常血管的细胞角蛋白、磷脂酰肌醇蛋白聚糖 3、EZH2 和 IMP3 呈阳性。 VMT 继承了先前存在的混合 GCT 的基因改变并表现出部分类似 YST 的免疫表型，这一发现可能有助于其临床侵袭性。
Vasculogenic mesenchymal tumor (VMT), a primitive mesenchymal neoplasm enriched by various-sized atypical vessels, is a new entity that develops in mediastinal germ cell tumors (GCTs) with yolk sac tumor (YST) components after chemotherapy. Notably, patients with VMT in the residual GCT have increased risk of developing sarcomas or hematopoietic malignancies. Here, we report a late-teenage male patient with residual teratoma and high-grade VMT after chemotherapy for a mediastinal mixed GCT, including YST. Whole-exome sequencing revealed biallelic inactivation ofTP53and extensive copy number alterations that suggested whole-genome doubling. The biopsy tissue of the mixed GCT before chemotherapy exhibited overlapping genetic alterations to those in the VMT. Immunohistochemical analyses of the VMT showed that the abnormal vessels were positive for cytokeratin, glypican 3, EZH2, and IMP3. The findings that VMT inherits the genetic alterations of pre-existing mixed GCT and exhibits a partly YST-like immunophenotype might contribute to its clinical aggressiveness.
影响因子：
5.6
作者：
Howitt, Brooke E.;Magers, Martin J.;Ulbright, Thomas M.
通讯作者：
Ulbright, Thomas M.
卵巢恶性混合生殖细胞肿瘤主要由多胚瘤模式和血管源性间叶质肿瘤成分组成。
DOI：
10.1097/pgp.0000000000000867
发表时间：
2022
期刊：
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
影响因子：
--
作者：
Y. Kouchi;Shugo Komatsu;Sakurako Harada;Yoshiki Shinomiya;J. Ikeda;T. Kishimoto
通讯作者：
T. Kishimoto