TY - JOUR
T1 - High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort
AU - Kroeze, Emma
AU - Weijers, Dilys D.
AU - Hagleitner, Melanie M.
AU - De Groot-Kruseman, Hester A.
AU - Jongmans, Marjolijn C.J.
AU - Kuiper, Roland P.
AU - Pieters, Rob
AU - Meijerink, Jules P.P.
AU - Loeffen, Jan L.C.
N1 - Funding Information:
EK was sponsored by Stichting Kinderen Kankervrij (KiKa-393). All the other authors have no conflicts of interest to disclose.
Publisher Copyright:
Copyright © 2021 the Author(s).
Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.
PY - 2022/1/21
Y1 - 2022/1/21
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85122316565&partnerID=8YFLogxK
U2 - 10.1097/HS9.0000000000000668
DO - 10.1097/HS9.0000000000000668
M3 - Article
C2 - 34964038
AN - SCOPUS:85122316565
SN - 2572-9241
VL - 6
SP - 1
EP - 5
JO - HemaSphere
JF - HemaSphere
IS - 1
M1 - E668
ER -