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Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma
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 iden...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221051/ https://www.ncbi.nlm.nih.gov/pubmed/30338611 http://dx.doi.org/10.1002/gcc.22668 |
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author | Tamura, Ryo Nakaoka, Hirofumi Yoshihara, Kosuke Mori, Yutaro Yachida, Nozomi Nishikawa, Nobumichi Motoyama, Teiichi Okuda, Shujiro Inoue, Ituro Enomoto, Takayuki |
author_facet | Tamura, Ryo Nakaoka, Hirofumi Yoshihara, Kosuke Mori, Yutaro Yachida, Nozomi Nishikawa, Nobumichi Motoyama, Teiichi Okuda, Shujiro Inoue, Ituro Enomoto, Takayuki |
author_sort | Tamura, Ryo |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6221051 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-62210512018-11-15 Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma Tamura, Ryo Nakaoka, Hirofumi Yoshihara, Kosuke Mori, Yutaro Yachida, Nozomi Nishikawa, Nobumichi Motoyama, Teiichi Okuda, Shujiro Inoue, Ituro Enomoto, Takayuki Genes Chromosomes Cancer Research Articles 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. John Wiley & Sons, Inc. 2018-10-19 2018-11 /pmc/articles/PMC6221051/ /pubmed/30338611 http://dx.doi.org/10.1002/gcc.22668 Text en © 2018 The Authors. Genes, Chromosomes & Cancer published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Research Articles Tamura, Ryo Nakaoka, Hirofumi Yoshihara, Kosuke Mori, Yutaro Yachida, Nozomi Nishikawa, Nobumichi Motoyama, Teiichi Okuda, Shujiro Inoue, Ituro Enomoto, Takayuki Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title | Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title_full | Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title_fullStr | Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title_full_unstemmed | Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title_short | Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
title_sort | novel mxd4–nutm1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221051/ https://www.ncbi.nlm.nih.gov/pubmed/30338611 http://dx.doi.org/10.1002/gcc.22668 |
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