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Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma
Author(s) -
Tamura Ryo,
Nakaoka Hirofumi,
Yoshihara Kosuke,
Mori Yutaro,
Yachida Nozomi,
Nishikawa Nobumichi,
Motoyama Teiichi,
Okuda Shujiro,
Inoue Ituro,
Enomoto Takayuki
Publication year - 2018
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22668
Subject(s) - biology , exome sequencing , missense mutation , exon , nonsynonymous substitution , fusion transcript , cancer research , transcriptome , somatic cell , exome , fusion gene , genetics , mutation , gene , genome , gene expression
Primary ovarian sarcomas are extremely rare tumors, and their genomic and transcriptomic alterations remain to be elucidated. We performed whole exome sequencing of primary tumor and matched normal blood samples derived from one patient with ovarian undifferentiated small round cell sarcoma. We identified 8 nonsynonymous somatic mutations, and all mutations were missense or nonsense changes. Next, we performed RNA sequencing of the tumor sample and identified two in‐frame fusion transcripts: MXD4–NUTM1 and ARL6–POT1. Most NUTM1 exons were retained in the MXD4–NUTM1 fusion transcript, and we confirmed an increase in NUTM1 mRNA and protein expression in tumor tissue. Further genomic and transcriptomic analyses might lead to the development of new therapeutic strategies based on the molecular characteristics of ovarian undifferentiated small round cell sarcoma.