RNA-sequencing identifies novel GREB1-NCOA2 fusion gene in a uterine sarcoma with the chromosomal translocation t(2;8) (p25;q13)

被引：31

作者：

Brunetti, Marta ^{[1
]}

Panagopoulos, Ioannis ^{[1
]}

Gorunova, Ludmila ^{[1
]}

Davidson, Ben ^{[2
,3
]}

Heim, Sverre ^{[1
,3
]}

Micci, Francesca ^{[1
]}

机构：

[1] Oslo Univ Hosp, Norwegian Radium Hosp, Inst Canc Genet & Informat, Sect Canc Cytogenet, N-0310 Oslo, Norway

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

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

来源：

GENES CHROMOSOMES & CANCER | 2018年 / 57卷 / 04期

关键词：

fusion gene; GREB1; NCOA2; RNA sequencing; uterine sarcoma; ENDOMETRIAL STROMAL SARCOMA; ACUTE MYELOID-LEUKEMIA; MESENCHYMAL CHONDROSARCOMA; COACTIVATOR FAMILY; HEY1-NCOA2; FUSION; CANCER GROWTH; RHABDOMYOSARCOMA; NCOA2; GREB1; TIF2;

D O I：

10.1002/gcc.22518

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Sarcomas account for 3% of all uterine malignancies and many of them are characterized by acquired, specific fusion genes whose detection has increased pathogenetic knowledge and diagnostic precision. We describe a novel fusion gene, GREB1-NCOA2, detected by transcriptome sequencing and validated by reverse transcriptase polymerase chain reaction and Sanger sequencing in an undifferentiated uterine sarcoma. The chimeric transcript was an in-frame fusion between exon 3 of GREB1 and exon 15 of NCOA2. The fusion is reported here for the first time, but it involves the GREB1 gene, an important promoter of tumor growth and progression, and NCOA2 which is known to be involved in transcriptional regulation. The alteration and recombination of these genes played a role in the tumorigenesis and/or progression of this sarcoma.

引用

页码：176 / 181

页数：6