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Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions

Journal article
Authors Martin Dalin
N. Katabi
Marta Persson
K. W. Lee
V. Makarov
A. Desrichard
L. A. Walsh
L. West
Z. Nadeem
D. Ramaswami
J. J. Havel
F. Kuo
K. Chadalavada
G. J. Nanjangud
I. Ganly
N. Riaz
A. L. Ho
C. R. Antonescu
R. Ghossein
Göran Stenman
T. A. Chan
L. G. T. Morris
Published in Nature Communications
Volume 8
ISSN 2041-1723
Publication year 2017
Published at Institute of Biomedicine, Department of Pathology
Sahlgrenska Cancer Center
Institute of Clinical Sciences, Department of Pediatrics
Language en
Keywords salivary-gland tumors, adenoid cystic carcinoma, somatic point, mutations, soft-tissue, pleomorphic adenomas, uterine leiomyomas, prognostic-factors, transgenic mice, sequencing data, family-members, Science & Technology - Other Topics
Subject categories Cancer and Oncology, Pathology


Myoepithelial carcinoma (MECA) is an aggressive salivary gland cancer with largely unknown genetic features. Here we comprehensively analyze molecular alterations in 40 MECAs using integrated genomic analyses. We identify a low mutational load, and high prevalence (70%) of oncogenic gene fusions. Most fusions involve the PLAG1 oncogene, which is associated with PLAG1 overexpression. We find FGFR1-PLAG1 in seven (18%) cases, and the novel TGFBR3-PLAG1 fusion in six (15%) cases. TGFBR3-PLAG1 promotes a tumorigenic phenotype in vitro, and is absent in 723 other salivary gland tumors. Other novel PLAG1 fusions include ND4-PLAG1; a fusion between mitochondrial and nuclear DNA. We also identify higher number of copy number alterations as a risk factor for recurrence, independent of tumor stage at diagnosis. Our findings indicate that MECA is a fusion-driven disease, nominate TGFBR3-PLAG1 as a hallmark of MECA, and provide a framework for future diagnostic and therapeutic research in this lethal cancer.

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