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High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort

This study describes the clinical characteristics of a complete Dutch T-cell lymphoblastic lymphoma (T-LBL) cohort, including second primary malignancies and comorbidities. We show that over 10% of patients in this complete T-LBL cohort have been diagnosed with a cancer predisposition syndrome (CPS)...

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Autores principales: Kroeze, Emma, Weijers, Dilys D., Hagleitner, Melanie M., de Groot-Kruseman, Hester A., Jongmans, Marjolijn C. J., Kuiper, Roland P., Pieters, Rob, Meijerink, Jules P. P., Loeffen, Jan L. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697338/
https://www.ncbi.nlm.nih.gov/pubmed/34964038
http://dx.doi.org/10.1097/HS9.0000000000000668
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author Kroeze, Emma
Weijers, Dilys D.
Hagleitner, Melanie M.
de Groot-Kruseman, Hester A.
Jongmans, Marjolijn C. J.
Kuiper, Roland P.
Pieters, Rob
Meijerink, Jules P. P.
Loeffen, Jan L. C.
author_facet Kroeze, Emma
Weijers, Dilys D.
Hagleitner, Melanie M.
de Groot-Kruseman, Hester A.
Jongmans, Marjolijn C. J.
Kuiper, Roland P.
Pieters, Rob
Meijerink, Jules P. P.
Loeffen, Jan L. C.
author_sort Kroeze, Emma
collection PubMed
description This study describes the clinical characteristics of a complete Dutch T-cell lymphoblastic lymphoma (T-LBL) cohort, including second primary malignancies and comorbidities. We show that over 10% of patients in this complete T-LBL cohort have been diagnosed with a cancer predisposition syndrome (CPS), consisting almost exclusively of constitutional mismatch repair deficiency (CMMRD). The clinical characteristics of sporadic T-LBL patients were compared with T-LBL patients that have been diagnosed with CMMRD. This shows that disease presentation is comparable but that disease localization in CMMRD patients might be more localized. The percentage of CPS seems reliable considering the completeness of the cohort of Dutch T-LBL patients and might even be an underestimation (possibility of undiagnosed CPS patients in cohort). As the frequency of an underlying predisposition syndrome among T-LBL patients may be underestimated at present, we advocate for screening all pediatric T-LBL patients for the presence of germline mutations in mismatch repair genes.
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spelling pubmed-86973382021-12-27 High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort Kroeze, Emma Weijers, Dilys D. Hagleitner, Melanie M. de Groot-Kruseman, Hester A. Jongmans, Marjolijn C. J. Kuiper, Roland P. Pieters, Rob Meijerink, Jules P. P. Loeffen, Jan L. C. Hemasphere Article This study describes the clinical characteristics of a complete Dutch T-cell lymphoblastic lymphoma (T-LBL) cohort, including second primary malignancies and comorbidities. We show that over 10% of patients in this complete T-LBL cohort have been diagnosed with a cancer predisposition syndrome (CPS), consisting almost exclusively of constitutional mismatch repair deficiency (CMMRD). The clinical characteristics of sporadic T-LBL patients were compared with T-LBL patients that have been diagnosed with CMMRD. This shows that disease presentation is comparable but that disease localization in CMMRD patients might be more localized. The percentage of CPS seems reliable considering the completeness of the cohort of Dutch T-LBL patients and might even be an underestimation (possibility of undiagnosed CPS patients in cohort). As the frequency of an underlying predisposition syndrome among T-LBL patients may be underestimated at present, we advocate for screening all pediatric T-LBL patients for the presence of germline mutations in mismatch repair genes. Lippincott Williams & Wilkins 2021-12-21 /pmc/articles/PMC8697338/ /pubmed/34964038 http://dx.doi.org/10.1097/HS9.0000000000000668 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Article
Kroeze, Emma
Weijers, Dilys D.
Hagleitner, Melanie M.
de Groot-Kruseman, Hester A.
Jongmans, Marjolijn C. J.
Kuiper, Roland P.
Pieters, Rob
Meijerink, Jules P. P.
Loeffen, Jan L. C.
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title_full High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title_fullStr High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title_full_unstemmed High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title_short High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
title_sort high prevalence of constitutional mismatch repair deficiency in a pediatric t-cell lymphoblastic lymphoma cohort
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697338/
https://www.ncbi.nlm.nih.gov/pubmed/34964038
http://dx.doi.org/10.1097/HS9.0000000000000668
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