Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?

Inflammatory bowel diseases (IBDs) are a group of chronic conditions of the gastrointestinal tract in which nationwide studies have revealed a higher risk of hematological malignancies (HMs). Clonal hematopoiesis (CH) is a premalignant condition defined by the presence of an acquired somatic mutatio...

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Autores principales: Cumbo, Cosimo, Tarantini, Francesco, Zagaria, Antonella, Anelli, Luisa, Minervini, Crescenzio Francesco, Coccaro, Nicoletta, Tota, Giuseppina, Impera, Luciana, Parciante, Elisa, Conserva, Maria Rosa, Redavid, Immacolata, Carluccio, Paola, Delia, Mario, Giordano, Annamaria, Longo, Maria Chiara, Perrone, Tommasina, Rossi, Antonella Russo, Specchia, Giorgina, Musto, Pellegrino, Albano, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039212/
https://www.ncbi.nlm.nih.gov/pubmed/35494055
http://dx.doi.org/10.3389/fonc.2022.873896
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author Cumbo, Cosimo
Tarantini, Francesco
Zagaria, Antonella
Anelli, Luisa
Minervini, Crescenzio Francesco
Coccaro, Nicoletta
Tota, Giuseppina
Impera, Luciana
Parciante, Elisa
Conserva, Maria Rosa
Redavid, Immacolata
Carluccio, Paola
Delia, Mario
Giordano, Annamaria
Longo, Maria Chiara
Perrone, Tommasina
Rossi, Antonella Russo
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
author_facet Cumbo, Cosimo
Tarantini, Francesco
Zagaria, Antonella
Anelli, Luisa
Minervini, Crescenzio Francesco
Coccaro, Nicoletta
Tota, Giuseppina
Impera, Luciana
Parciante, Elisa
Conserva, Maria Rosa
Redavid, Immacolata
Carluccio, Paola
Delia, Mario
Giordano, Annamaria
Longo, Maria Chiara
Perrone, Tommasina
Rossi, Antonella Russo
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
author_sort Cumbo, Cosimo
collection PubMed
description Inflammatory bowel diseases (IBDs) are a group of chronic conditions of the gastrointestinal tract in which nationwide studies have revealed a higher risk of hematological malignancies (HMs). Clonal hematopoiesis (CH) is a premalignant condition defined by the presence of an acquired somatic mutation characterized by a variant allele frequency (VAF) of ≥2%, in a gene frequently associated with HMs. A growing body of evidence suggests a correlation between inflammation and CH; its occurrence in the context of IBD has been previously demonstrated. With the aim to assess CH possible co-occurrence in patients with an IBD associated with HMs, we performed a targeted next-generation sequencing analysis in a cohort of thirteen patients who were referred to our center with IBD associated with HMs. Eleven (85%) patients showed one or more mutations in CH-associated genes; DNMT3A was the most frequently mutated gene, followed by ASXL1 and JAK2. These results may suggest that the mechanisms at the basis of the inflammatory environment could potentially select for the growth of hematopoietic clones harboring specific mutations. In this context, CH emergence may be boosted by the proinflammatory IBD environment, thus acting as a biological link between IBD and the HM onset. If these data are confirmed, IBD patients screened and positive for CH should undergo a hematologic follow-up to assess the risk of developing HM. Future study will clarify the relationship between these conditions.
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spelling pubmed-90392122022-04-27 Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link? Cumbo, Cosimo Tarantini, Francesco Zagaria, Antonella Anelli, Luisa Minervini, Crescenzio Francesco Coccaro, Nicoletta Tota, Giuseppina Impera, Luciana Parciante, Elisa Conserva, Maria Rosa Redavid, Immacolata Carluccio, Paola Delia, Mario Giordano, Annamaria Longo, Maria Chiara Perrone, Tommasina Rossi, Antonella Russo Specchia, Giorgina Musto, Pellegrino Albano, Francesco Front Oncol Oncology Inflammatory bowel diseases (IBDs) are a group of chronic conditions of the gastrointestinal tract in which nationwide studies have revealed a higher risk of hematological malignancies (HMs). Clonal hematopoiesis (CH) is a premalignant condition defined by the presence of an acquired somatic mutation characterized by a variant allele frequency (VAF) of ≥2%, in a gene frequently associated with HMs. A growing body of evidence suggests a correlation between inflammation and CH; its occurrence in the context of IBD has been previously demonstrated. With the aim to assess CH possible co-occurrence in patients with an IBD associated with HMs, we performed a targeted next-generation sequencing analysis in a cohort of thirteen patients who were referred to our center with IBD associated with HMs. Eleven (85%) patients showed one or more mutations in CH-associated genes; DNMT3A was the most frequently mutated gene, followed by ASXL1 and JAK2. These results may suggest that the mechanisms at the basis of the inflammatory environment could potentially select for the growth of hematopoietic clones harboring specific mutations. In this context, CH emergence may be boosted by the proinflammatory IBD environment, thus acting as a biological link between IBD and the HM onset. If these data are confirmed, IBD patients screened and positive for CH should undergo a hematologic follow-up to assess the risk of developing HM. Future study will clarify the relationship between these conditions. Frontiers Media S.A. 2022-04-12 /pmc/articles/PMC9039212/ /pubmed/35494055 http://dx.doi.org/10.3389/fonc.2022.873896 Text en Copyright © 2022 Cumbo, Tarantini, Zagaria, Anelli, Minervini, Coccaro, Tota, Impera, Parciante, Conserva, Redavid, Carluccio, Delia, Giordano, Longo, Perrone, Rossi, Specchia, Musto and Albano https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Cumbo, Cosimo
Tarantini, Francesco
Zagaria, Antonella
Anelli, Luisa
Minervini, Crescenzio Francesco
Coccaro, Nicoletta
Tota, Giuseppina
Impera, Luciana
Parciante, Elisa
Conserva, Maria Rosa
Redavid, Immacolata
Carluccio, Paola
Delia, Mario
Giordano, Annamaria
Longo, Maria Chiara
Perrone, Tommasina
Rossi, Antonella Russo
Specchia, Giorgina
Musto, Pellegrino
Albano, Francesco
Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title_full Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title_fullStr Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title_full_unstemmed Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title_short Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?
title_sort clonal hematopoiesis at the crossroads of inflammatory bowel diseases and hematological malignancies: a biological link?
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9039212/
https://www.ncbi.nlm.nih.gov/pubmed/35494055
http://dx.doi.org/10.3389/fonc.2022.873896
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