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01-09-2017 | Brief Report

Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing

Authors: Yukinobu Ito, Daichi Maeda, Makoto Yoshida, Akihiko Yoshida, Yukitsugu Kudo-Asabe, Hiroshi Nanjyo, Chikako Izumi, Fumio Yamamoto, Masahiro Inoue, Hiroyuki Shibata, Hiroto Katoh, Shumpei Ishikawa, Hiromi Nakamura, Yasushi Totoki, Tatsuhiro Shibata, Shinichi Yachida, Akiteru Goto

Published in: Virchows Archiv | Issue 3/2017

Excerpt

Intimal sarcoma is an undifferentiated and aggressive sarcoma that arises most frequently in great vessels, such as the thoracic or pulmonary artery, but can also arise in the heart. Neuville et al. recently examined the histopathologic and molecular features of 100 primary cardiac sarcomas and found that intimal sarcoma was the most frequent type of cardiac sarcoma, accounting for 42% of all cases [1]. They further showed that MDM2 was overexpressed and/or amplified in all tumors that met the diagnostic criteria for intimal sarcoma. However, evidence regarding the genetic alterations in intimal sarcoma is scarce, and the mutational profiles of intimal sarcoma have never been investigated comprehensively. …

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Title: Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing
Authors: Yukinobu Ito
Daichi Maeda
Makoto Yoshida
Akihiko Yoshida
Yukitsugu Kudo-Asabe
Hiroshi Nanjyo
Chikako Izumi
Fumio Yamamoto
Masahiro Inoue
Hiroyuki Shibata
Hiroto Katoh
Shumpei Ishikawa
Hiromi Nakamura
Yasushi Totoki
Tatsuhiro Shibata
Shinichi Yachida
Akiteru Goto
Publication date: 01-09-2017
Publisher: Springer Berlin Heidelberg
Published in: Virchows Archiv / Issue 3/2017
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-017-2135-x

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Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing

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