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...
Autores principales: | , , , , , , , , , , , , , , , |
---|---|
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 |