Cargando…

TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941398/
https://www.ncbi.nlm.nih.gov/pubmed/31898539
http://dx.doi.org/10.1186/s12885-019-6497-0
_version_ 1783484547534422016
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
author_facet 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
author_sort Akizuki, Keiichi
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6941398
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-69413982020-01-06 TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia 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 BMC Cancer Research Article 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. BioMed Central 2020-01-02 /pmc/articles/PMC6941398/ /pubmed/31898539 http://dx.doi.org/10.1186/s12885-019-6497-0 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
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
TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title_full TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title_fullStr TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title_full_unstemmed TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title_short TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
title_sort tp53 and pten mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941398/
https://www.ncbi.nlm.nih.gov/pubmed/31898539
http://dx.doi.org/10.1186/s12885-019-6497-0
work_keys_str_mv AT akizukikeiichi tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT sekinemasaaki tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kogureyasunori tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kamedatakuro tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT shidekotaro tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT koyajunji tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kamiuntenayako tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kubukiyoko tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT tahirayuki tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT hidakatomonori tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kiwakitakumi tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT tanakahiroyuki tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT satoyuichiro tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kataokahiroaki tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT kataokakeisuke tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia
AT shimodakazuya tp53andptenmutationsweresharedinconcurrentgermcelltumorandacutemegakaryoblasticleukemia