&ITZC3H7B-BCOR&IT high-grade endometrial stromal sarcomas: a report of 17 cases of a newly defined entity

被引：106

作者：

Lewis, Natasha ^{[1
]}

Soslow, Robert A. ^{[1
]}

Delair, Deborah F. ^{[1
]}

Park, Kay J. ^{[1
]}

Murali, Rajmohan ^{[1
]}

Hollmann, Travis J. ^{[1
]}

Davidson, Ben ^{[2
,3
]}

Micci, Francesca ^{[4
]}

Panagopoulos, Ioannis ^{[4
]}

Hoang, Lien N. ^{[5
]}

Arias-Stella, Javier A., III ^{[1
]}

Oliva, Esther ^{[6
,7
]}

Young, Robert H. ^{[6
,7
]}

Hensley, Martee L. ^{[8
]}

Leitao, Mario M., Jr. ^{[9
]}

Hameed, Meera ^{[1
]}

Benayed, Ryma ^{[1
]}

Ladanyi, Marc ^{[1
]}

Frosina, Denise ^{[1
]}

Jungbluth, Achim A. ^{[1
]}

Antonescu, Cristina R. ^{[1
]}

Chiang, Sarah ^{[1
]}

机构：

[1] Mem Sloan Kettering Canc Ctr, Dept Pathol, 1275 York Ave, New York, NY 10065 USA

[2] Oslo Univ Hosp, Norwegian Radium Hosp, Dept Pathol, Oslo, Norway

[3] Univ Oslo, Fac Med, Oslo, Norway

[4] Oslo Univ Hosp, Norwegian Radium Hosp, Inst Canc Genet & Informat, Sect Canc Cytogenet, Oslo, Norway

[5] Vancouver Gen Hosp, Dept Pathol, Vancouver, BC, Canada

[6] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[7] Harvard Med Sch, Dept Pathol, Boston, MA USA

[8] Mem Sloan Kettering Canc Ctr, Dept Med, Gynecol Med Oncol Serv, 1275 York Ave, New York, NY 10021 USA

[9] Mem Sloan Kettering Canc Ctr, Dept Surg, Gynecol Serv, 1275 York Ave, New York, NY 10021 USA

来源：

MODERN PATHOLOGY | 2018年 / 31卷 / 04期

关键词：

CLEAR-CELL-SARCOMA; INTERNAL TANDEM DUPLICATION; INFLAMMATORY MYOFIBROBLASTIC TUMOR; ACUTE MYELOID-LEUKEMIA; ROUND-CELL; MYXOID LEIOMYOSARCOMA; BCOR; FUSION; UTERUS; MUTATIONS;

D O I：

10.1038/modpathol.2017.162

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

High-grade endometrial stromal sarcoma likely encompasses underrecognized tumors harboring genetic abnormalities besides YWHAE-NUTM2 fusion. Triggered by three initial endometrial stromal sarcomas with ZC3H7B-BCOR fusion characterized by high-grade morphology and aggressive clinical behavior, we herein investigate the clinicopathologic features of this genetic subset by expanding the analysis to 17 such tumors. All of them occurred in adult women with a median age of 54 (range, 28-71) years. They were predominantly based in the endomyometrium and demonstrated tongue-like and/or pushing myometrial invasion. Most were uniformly cellular and displayed haphazard fascicles of spindle cells with mild to moderate nuclear atypia. Myxoid matrix was seen in 14 of 17 (82%) tumors, and collagen plaques were seen in 8 (47%). The mitotic index was >= 10 mitotic figures/10 high-power fields (HPFs) in 14 of 17 (82%) tumors with a median of 14.5 mitotic figures/10 HPFs. No foci of conventional or variant low-grade endometrial stromal sarcoma were seen. All tumors expressed CD10 with only limited or absent desmin, SMA and/or h-caldesmon staining. ER and PR expression in >5% of cells was seen in 4 of 12 (33%) tumors. Diffuse cyclin D1 and BCOR immunoreactivity was present in 7 of 8 (88%) and 7 of 14 (50%) tumors, respectively. Fluorescence in situ hybridization or targeted RNA sequencing confirmed ZC3H7B-BCOR fusion in all tumors, including four and two previously diagnosed as myxoid leiomyosarcoma and undifferentiated uterine sarcoma, respectively. Limited clinical data suggest that patients present at higher stage and have worse prognosis compared with published outcomes in low-grade endometrial stromal sarcoma. Tumors with ZC3H7B-BCOR fusion constitute a distinct group of endometrial stromal sarcomas with high-grade morphology that should be distinguished from other uterine mesenchymal neoplasms that may demonstrate myxoid morphology.

引用

页码：674 / 684

页数：11

共 41 条

[41] An exploratory investigator-initiated trial via intrathecal or intracerebroventricular delivery of B7H3-specific allogeneic universal CAR-T cells in patients with recurrent high-grade gliomas.
Shang, Xiaoyun
Li, Xuetao
Zhang, Xuewen
Huang, Yulun
JOURNAL OF CLINICAL ONCOLOGY, 2024, 42 (23_SUPPL) : 23 - 23

← 1 2 3 4 5 →