Author:
Akizuki Keiichi,Sekine Masaaki,Kogure Yasunori,Kameda Takuro,Shide Kotaro,Koya Junji,Kamiunten Ayako,Kubuki Yoko,Tahira Yuki,Hidaka Tomonori,Kiwaki Takumi,Tanaka Hiroyuki,Sato Yuichiro,Kataoka Hiroaki,Kataoka Keisuke,Shimoda Kazuya
Abstract
Abstract
Background
The occurrence of a mediastinal germ cell tumor (GCT) and hematological malignancy in the same patient is very rare. Due to its rarity, there have been only two reports of the concurrent cases undergoing detailed genetic analysis with whole-exome sequencing (WES), and the possible clonal relationship between the both tumors remained not fully elucidated.
Methods
We performed whole-exome sequencing analysis of mediastinal GCT and acute myeloid leukemia (AML) samples obtained from one young Japanese male adult patient with concurrent both tumors, and investigated the possible clonal relationship between them.
Results
Sixteen somatic mutations were detected in the mediastinal GCT sample and 18 somatic mutations in the AML sample. Mutations in nine genes, including TP53 and PTEN both known as tumor suppressor genes, were shared in both tumors.
Conclusions
All in our case and in the previous two cases with concurrent mediastinal GCT and AML undergoing with whole-exome sequencing analysis, TP53 and PTEN mutations were commonly shared in both tumors. These data not only suggest that these tumors share a common founding clone, but also indicate that associated mediastinal GCT and AML harboring TP53 and PTEN mutations represent a unique biological entity.
Funder
National Cancer Center Research and Development Funds
Grant-in-Aid for Clinical Research from University of Miyazaki Hospital
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics,Oncology
Cited by
15 articles.
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