Novel MXD4-NUTM1 Fusion Transcript Identified in Primary Ovarian Undifferentiated Small Round Cell Sarcoma

Overview

Journal Genes Chromosomes Cancer

Specialties Molecular Biology
Oncology

Date 2018 Oct 20

PMID 30338611

Citations 17

Authors

Ryo Tamura

Hirofumi Nakaoka

Kosuke Yoshihara

Yutaro Mori

Nozomi Yachida

Nobumichi Nishikawa

Teiichi Motoyama

Shujiro Okuda

Ituro Inoue

Takayuki Enomoto

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Advancing Understanding and Therapeutic Strategies for NUT Sarcomas: Comprehensive Review of the Literature and Two Cases.

Torrado C, Nassif Haddad E, Somaiah N, Msaouel P, Lazar A, Piha-Paul S J Immunother Precis Oncol. 2025; 8(2):113-120.

PMID: 40070529 PMC: 11896019. DOI: 10.36401/JIPO-24-28.

Hiding in plain sight: NUT carcinoma is an unrecognized subtype of squamous cell carcinoma of the lungs and head and neck.

Luo J, Bishop J, Dubois S, Hanna G, Sholl L, Stelow E Nat Rev Clin Oncol. 2025; .

PMID: 39900969 DOI: 10.1038/s41571-025-00986-3.

A novel MXI1-NUTM2B fusion detected in an undifferentiated ovarian cancer.

Elshafey M, Ghandour M, Adams R, Neill D, Gogoi R Gynecol Oncol Rep. 2025; 57:101653.

PMID: 39758708 PMC: 11699607. DOI: 10.1016/j.gore.2024.101653.

The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.

Wang J, Che F, Zhao Y, Wei L, Chen D, Dai C Int J Med Sci. 2024; 21(2):207-218.

PMID: 38169538 PMC: 10758142. DOI: 10.7150/ijms.88039.

Molecular features for timely cancer diagnosis and treatment - tumors of the ovary, fallopian tube and endometrium.

Gatius S, Matias Guiu X, Davidson B Virchows Arch. 2023; 484(2):339-351.

PMID: 38099957 DOI: 10.1007/s00428-023-03710-7.

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