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Mutational profiling of acute lymphoblastic leukemia with testicular relapse
Relapsed acute lymphoblastic leukemia (ALL) is the leading cause of deaths of childhood cancer. Although relapse usually happens in the bone marrow, extramedullary relapse occasionally occurs including either the central nervous system or testis (<1–2%). We selected two pediatric ALL patients who...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335697/ https://www.ncbi.nlm.nih.gov/pubmed/28253933 http://dx.doi.org/10.1186/s13045-017-0434-y |
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author | Ding, Ling-Wen Sun, Qiao-Yang Mayakonda, Anand Tan, Kar-Tong Chien, Wenwen Lin, De-Chen Jiang, Yan-Yi Xu, Liang Garg, Manoj Lao, Zhen-Tang Lill, Michael Yang, Henry Yeoh, Allen Eng Juh Koeffler, H. Phillip |
author_facet | Ding, Ling-Wen Sun, Qiao-Yang Mayakonda, Anand Tan, Kar-Tong Chien, Wenwen Lin, De-Chen Jiang, Yan-Yi Xu, Liang Garg, Manoj Lao, Zhen-Tang Lill, Michael Yang, Henry Yeoh, Allen Eng Juh Koeffler, H. Phillip |
author_sort | Ding, Ling-Wen |
collection | PubMed |
description | Relapsed acute lymphoblastic leukemia (ALL) is the leading cause of deaths of childhood cancer. Although relapse usually happens in the bone marrow, extramedullary relapse occasionally occurs including either the central nervous system or testis (<1–2%). We selected two pediatric ALL patients who experienced testicular relapse and interrogated their leukemic cells with exome sequencing. The sequencing results and clonality analyses suggest that relapse of patient D483 directly evolved from the leukemic clone at diagnosis which survived chemotherapy. In contrast, relapse leukemia cells (both bone marrow and testis) of patient D727 were likely derived from a common ancestral clone, and testicular relapse likely arose independently from the bone marrow relapsed leukemia. Our findings decipher the mutational spectra and shed light on the clonal evolution of two cases of pediatric ALL with testicular relapse. Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13045-017-0434-y) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-5335697 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-53356972017-03-07 Mutational profiling of acute lymphoblastic leukemia with testicular relapse Ding, Ling-Wen Sun, Qiao-Yang Mayakonda, Anand Tan, Kar-Tong Chien, Wenwen Lin, De-Chen Jiang, Yan-Yi Xu, Liang Garg, Manoj Lao, Zhen-Tang Lill, Michael Yang, Henry Yeoh, Allen Eng Juh Koeffler, H. Phillip J Hematol Oncol Letter to the Editor Relapsed acute lymphoblastic leukemia (ALL) is the leading cause of deaths of childhood cancer. Although relapse usually happens in the bone marrow, extramedullary relapse occasionally occurs including either the central nervous system or testis (<1–2%). We selected two pediatric ALL patients who experienced testicular relapse and interrogated their leukemic cells with exome sequencing. The sequencing results and clonality analyses suggest that relapse of patient D483 directly evolved from the leukemic clone at diagnosis which survived chemotherapy. In contrast, relapse leukemia cells (both bone marrow and testis) of patient D727 were likely derived from a common ancestral clone, and testicular relapse likely arose independently from the bone marrow relapsed leukemia. Our findings decipher the mutational spectra and shed light on the clonal evolution of two cases of pediatric ALL with testicular relapse. Presence of CREBBP/NT5C2 mutations suggests that a personalized therapeutic approach should be applied to these two patients. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13045-017-0434-y) contains supplementary material, which is available to authorized users. BioMed Central 2017-03-02 /pmc/articles/PMC5335697/ /pubmed/28253933 http://dx.doi.org/10.1186/s13045-017-0434-y Text en © The Author(s). 2017 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 | Letter to the Editor Ding, Ling-Wen Sun, Qiao-Yang Mayakonda, Anand Tan, Kar-Tong Chien, Wenwen Lin, De-Chen Jiang, Yan-Yi Xu, Liang Garg, Manoj Lao, Zhen-Tang Lill, Michael Yang, Henry Yeoh, Allen Eng Juh Koeffler, H. Phillip Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title | Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title_full | Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title_fullStr | Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title_full_unstemmed | Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title_short | Mutational profiling of acute lymphoblastic leukemia with testicular relapse |
title_sort | mutational profiling of acute lymphoblastic leukemia with testicular relapse |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335697/ https://www.ncbi.nlm.nih.gov/pubmed/28253933 http://dx.doi.org/10.1186/s13045-017-0434-y |
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