1. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia.
- Author
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Gallon, Richard, Phelps, Rachel, Betts, Leigh, Hayes, Christine, Masic, Dino, Irving, Julie A. E., McAnulty, Ciaron, Saha, Vaskar, Vora, Ajay, Wimmer, Katharina, Motwani, Jayashree, Macartney, Christine, Burn, John, Jackson, Michael S., Moorman, Anthony V., and Santibanez-Koref, Mauro
- Subjects
LYMPHOBLASTIC leukemia ,ACUTE leukemia ,TEENAGERS ,DNA mismatch repair ,HEREDITARY nonpolyposis colorectal cancer - Abstract
A previous literature review found at least 4/9 (>=44.4%) CMMRD-associated ALL were T-ALL [[1]], and 8/88 (9.1%, 95% CI: 0.4-17.1%) childhood T-LBL patients were diagnosed with CMMRD in a consecutive series between 2007 and 2020 [[15]], suggesting an association of CMMRD with T cell lineage malignancies. For example, PCR-fragment length analysis has been shown to be insensitive to MSH6 deficiency in ALL relapse samples [[3]], and detected increased MSI in only 27% of CMMRD haematological malignancies and in 0% of non-neoplastic CMMRD tissues [[9]]. Here, 1/17 (5.9%, 95% CI: 0.2-28.7%) ALL patients with SMN had CMMRD, which is similar to the 14/189 (7.4%, 95% CI: 4.1-12.1%) pediatric non-Hodgkin lymphoma patients with SMN who had CMMRD in another recent study [[16]]. Constitutional mismatch repair deficiency (CMMRD, MIM #276300) is a rare, recessive pediatric and adolescent cancer syndrome, caused by pathogenic variants in a mismatch repair (MMR) gene: I MLH1 i , I MSH2 i , I MSH6 i , or I PMS2 i . [Extracted from the article]
- Published
- 2023
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