ZC3H7B-BCOR Fusion High-grade Endometrial Stromal Sarcoma With Morphologic Features of Low-grade Endometrial Stromal Sarcoma. A Case Report and Review of Literature.
Journal
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
ISSN: 1538-7151
Titre abrégé: Int J Gynecol Pathol
Pays: United States
ID NLM: 8214845
Informations de publication
Date de publication:
01 Nov 2023
01 Nov 2023
Historique:
medline:
23
10
2023
pubmed:
10
8
2023
entrez:
10
8
2023
Statut:
ppublish
Résumé
High-grade endometrial stromal sarcomas with ZC3H7B-BCOR fusion are rare. They are predominantly located in the endomyometrium, with morphologic features characterized as haphazardly arranged fascicles of spindle cells with mild to moderate atypia, abundant myxoid matrix, high mitotic index, and tongue-like/pushing patterns of myometrial invasion. Furthermore, conventional or variant low-grade endometrial stromal sarcomas are often not present. Clinically, they present at a higher stage and are associated with worse prognosis compared with low-grade endometrial stromal sarcoma. Given the limited number of reported cases, we describe the case of a ZC3H7B-BCOR fusion high-grade endometrial stromal sarcoma initially diagnosed on the hysterectomy specimen as low-grade endometrial stromal sarcoma based on an endometrial stromal tumor showing tongue-like myometrial and lymphovascular invasion, minimal cytologic atypia, low-mitotic activity (0-1/10 high-power field), round/spindle cell component and immunohistochemical stain results (positive for CD10, estrogen receptor, progesterone receptor, and focally positive for cyclin D1). At the time of pathologic diagnosis, she was Stage Ia and managed conservatively. Subsequent molecular analysis revealed a ZC3H7B (exon 10)- BCOR (BCL-6 corepressor) (exon 7) gene fusion. On follow-up, she showed no evidence of disease at 37 months from the time of diagnosis. This case report expands the morphologic spectrum of ZC3H7B-BCOR fusion high-grade ESS, which includes an intramural location, morphologic and immunophenotypic features similar to LG-ESS, as well as the presence of round and spindle cell components. This case also underscores the value of molecular analysis in the proper classification of ESS.
Identifiants
pubmed: 37562066
doi: 10.1097/PGP.0000000000000917
pii: 00004347-990000000-00102
doi:
Substances chimiques
Repressor Proteins
0
Proto-Oncogene Proteins
0
Transcription Factors
0
BCOR protein, human
0
ZC3H7B protein, human
0
RNA-Binding Proteins
0
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
597-601Informations de copyright
Copyright © 2023 by the International Society of Gynecological Pathologists.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Chiang S, Croce S, Lee CH, et al. Lokuhetty DWV, Cree IA. Chapter 6. Tumours of the uterine corpus. High-grade endometrial stromal sarcoma. World Health Classification of Female Genital Tract Tumor. Lyon: International Agence for Research on Cancer; 2020:289–91.
Lee CH, Mariño-Enriquez A, Ou W, et al. The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor. Am J Surg Pathol 2012;36:641–53.
Lewis N, Soslow RA, Delair DF, et al. ZC3H7B-BCOR high-grade endometrial stromal sarcomas: a report of 17 cases of a newly defined entity. Modern Pathol 2018;31:674–84.
Cheng YW, Meyer A, Jakubowski MA, et al. Gene fusion identification using anchor-based multiplex PCR and next-generation sequencing. J Appl Lab Med 2021;6:917–930.
Panagopoulos I, Thorsen J, Gorunova L, et al. Fusion of the ZC3H7B and BCOR genes in endometrial stromal sarcomas carrying an X;22-translocation. Genes Chromosomes Cancer 2013;52:610–8.
Hoang L, Chiang S, Lee CH. Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations. Pathology 2018;50:162–77.
Mansor S, Kuick CH, Lim SL, et al. ZC3H7B-BCOR-rearranged endometrial stromal sarcomas: a distinct subset merits its own classification? Int J Gynecol pathol 2019;38:420–5.
Ondič O, Bednářová B, Ptáková N, et al. ZC3H7B-BCOR high-grade endometrial stromal sarcoma may present as myoma nascens with cytoplasmic signet ring cell change. Virchows Arch 2020;476:615–9.