A recurrent endometrial stromal sarcoma harbors the novel fusion JAZF1-BCORL1
نویسندگان
چکیده
•Genomic alterations may improve diagnostic certainty and subsequent treatment of endometrial stromal sarcoma.•Novel JAZF1-BCORL1 mutation was identified.•Targeted therapeutics to down-stream targets may improve survival benefit in these patients.
منابع مشابه
Diagnostic Utility of the JAZF1/JJAZ1 Gene Fusion in Endometrial Stromal Sarcomas and Their Histologic Variants
Endometrial stromal tumor is an uncommon uterine tumor comprising <10% of all uterine mesenchymal neoplasms. The diagnosis of low-grade endometrial stromal sarcoma (LGESS) is based on characteristic histopathological features showing diffuse growth of uniform stromal cells resembling those of proliferative phase endometrium and uniformly distributed small spiral arterioles and it is not problem...
متن کاملFusion of the genes BRD8 and PHF1 in endometrial stromal sarcoma
We present a new endometrial stromal sarcoma (ESS)-associated genomic rearrangement involving chromosome arms 5p and 6p and leading to the formation of a BRD8-PHF1 fusion gene. The PHF1 (PHD finger protein 1) gene, from 6p21, is known to be rearranged in ESS in a promiscuous way inasmuch as it has been shown to recombine with JAZF1, EPC1, MEAF6, and now also with BRD8, in tumors of this type. I...
متن کاملJAZF1/SUZ12 gene fusion in endometrial stromal sarcomas
Endometrial stromal sarcomas (ESSs) belong to the rarest uterine malignancies (prevalence category <1-9/1,000,000). According to the new 2014 World Health Organisation (WHO) classification, they are separated into four categories; benign endometrial stromal nodules (ESNs), low grade endometrial stromal sarcomas (LG-ESSs), high-grade endometrial stromal sarcomas (HG-ESSs) and undifferentiated ut...
متن کاملThe clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor.
Endometrial stromal sarcoma (ESS) is a genetically heterogenous group of uterine sarcomas, of which almost half are associated with JAZF1 rearrangement. We recently identified a novel genetic fusion between YWHAE and FAM22A/B in ESS harboring t(10;17)(q22;p13) and herein describe the clinicopathologic features of 13 YWHAE-FAM22 ESS cases (11 primary and 3 metastatic) and compare them with 20 ES...
متن کاملGenomic landscape of endometrial stromal sarcoma of uterus.
Although recurrent gene fusions such as JAZF1-JJAZ1 are considered driver events for endometrial stromal sarcoma (ESS) development, other genomic alterations remain largely unknown. In this study, we performed whole-exome sequencing, transcriptome sequencing and copy number profiling for five ESSs (three low-grade ESS (LG-ESS) and two undifferentiated uterine sarcomas (UUSs)). All three LG-ESSs...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 20 شماره
صفحات -
تاریخ انتشار 2017