Cargando…
The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome
Myeloproliferative neoplasms are hematologic malignancies typified by a substantial heritable component. Germline variants may affect the risk of developing a MPN, as documented by GWAS studies on large patient cohorts. In addition, once the MPN occurred, inherited host genetic factors can be respon...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534117/ https://www.ncbi.nlm.nih.gov/pubmed/34685575 http://dx.doi.org/10.3390/cells10102597 |
_version_ | 1784587477946728448 |
---|---|
author | Masselli, Elena Pozzi, Giulia Carubbi, Cecilia Vitale, Marco |
author_facet | Masselli, Elena Pozzi, Giulia Carubbi, Cecilia Vitale, Marco |
author_sort | Masselli, Elena |
collection | PubMed |
description | Myeloproliferative neoplasms are hematologic malignancies typified by a substantial heritable component. Germline variants may affect the risk of developing a MPN, as documented by GWAS studies on large patient cohorts. In addition, once the MPN occurred, inherited host genetic factors can be responsible for tuning the disease phenotypic presentation, outcome, and response to therapy. This review covered the polymorphisms that have been variably associated to MPNs, discussing them in the functional perspective of the biological pathways involved. Finally, we reviewed host genetic determinants of clonal hematopoiesis, a pre-malignant state that may anticipate overt hematologic neoplasms including MPNs. |
format | Online Article Text |
id | pubmed-8534117 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-85341172021-10-23 The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome Masselli, Elena Pozzi, Giulia Carubbi, Cecilia Vitale, Marco Cells Review Myeloproliferative neoplasms are hematologic malignancies typified by a substantial heritable component. Germline variants may affect the risk of developing a MPN, as documented by GWAS studies on large patient cohorts. In addition, once the MPN occurred, inherited host genetic factors can be responsible for tuning the disease phenotypic presentation, outcome, and response to therapy. This review covered the polymorphisms that have been variably associated to MPNs, discussing them in the functional perspective of the biological pathways involved. Finally, we reviewed host genetic determinants of clonal hematopoiesis, a pre-malignant state that may anticipate overt hematologic neoplasms including MPNs. MDPI 2021-09-29 /pmc/articles/PMC8534117/ /pubmed/34685575 http://dx.doi.org/10.3390/cells10102597 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Masselli, Elena Pozzi, Giulia Carubbi, Cecilia Vitale, Marco The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title | The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title_full | The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title_fullStr | The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title_full_unstemmed | The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title_short | The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome |
title_sort | genetic makeup of myeloproliferative neoplasms: role of germline variants in defining disease risk, phenotypic diversity and outcome |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8534117/ https://www.ncbi.nlm.nih.gov/pubmed/34685575 http://dx.doi.org/10.3390/cells10102597 |
work_keys_str_mv | AT massellielena thegeneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT pozzigiulia thegeneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT carubbicecilia thegeneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT vitalemarco thegeneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT massellielena geneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT pozzigiulia geneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT carubbicecilia geneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome AT vitalemarco geneticmakeupofmyeloproliferativeneoplasmsroleofgermlinevariantsindefiningdiseaseriskphenotypicdiversityandoutcome |