Copy-Number Alterations and Copy-Neutral Loss of Heterozygosity in Adult T-ALL: A Descriptive Study in Relation to Day +70 MRD
- 1National Medical Research Center for Hematology, 125167 Moscow, Russia
Abstract
Chromosomal microarray analysis (CMA) detects copy-number alterations and copy-neutral loss of heterozygosity (cnLOH), but the CMA landscape of adult T-ALL has been described in few cohorts. Day +70 measurable residual disease (MRD) is a surrogate marker of early treatment response, available only after induction. Thirty-nine adults with Ph-negative T-ALL on a single protocol underwent diagnostic CMA. Mosaic events were catalogued per chromosome and against a 57-gene panel and described in relation to day +70 MRD status (13 MRD-positive, 25 MRD-negative). The analysis is presented as descriptive without formal inference. Mosaic alterations were present in almost all patients, so groups differed in the amount rather than the presence of genomic change. Complex profiles (≥3 affected chromosomes) were seen in 46.2% of MRD-positive and 20.0% of MRD-negative patients. Biallelic 9p21.3 deletion occurred in both groups, whereas 9p cnLOH without deletion occurred predominantly in MRD-negative patients. Total cnLOH burden did not track with copy-number burden. Copy-number and copy-neutral events are mechanistically distinct and were not interchangeable here: 9p deletion and 9p cnLOH are separable by SNP array and should be reported separately rather than pooled. No association reached significance, although the cohort was too small to detect all but very large effects.
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BibTeX
@article{risinskaya2026copynumber,
title = {{Copy-Number Alterations and Copy-Neutral Loss of Heterozygosity in Adult T-ALL: A Descriptive Study in Relation to Day +70 MRD}},
author = {Natalya Risinskaya and Sofia Starchenko and Abdulpatakh Abdulpatakhov and Yulia Chabaeva and Olga Aleshina and Ekaterina Kotova and Tatiana Obukhova and Anna Yushkova and Olga Maiorova and Nikolay Kapranov and Irina Galtseva and Valeria Surimova and Sergey Kulikov and Andrey Sudarikov and Elena Parovichnikova},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = oct,
doi = {10.3390/ijms27209348},
url = {https://www.mdpi.com/1422-0067/27/20/9348},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Copy-Number Alterations and Copy-Neutral Loss of Heterozygosity in Adult T-ALL: A Descriptive Study in Relation to Day +70 MRD
AU - Natalya Risinskaya
AU - Sofia Starchenko
AU - Abdulpatakh Abdulpatakhov
AU - Yulia Chabaeva
AU - Olga Aleshina
AU - Ekaterina Kotova
AU - Tatiana Obukhova
AU - Anna Yushkova
AU - Olga Maiorova
AU - Nikolay Kapranov
AU - Irina Galtseva
AU - Valeria Surimova
AU - Sergey Kulikov
AU - Andrey Sudarikov
AU - Elena Parovichnikova
PY - 2026
DA - 2026/10/21
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27209348
UR - https://www.mdpi.com/1422-0067/27/20/9348
AB - Chromosomal microarray analysis (CMA) detects copy-number alterations and copy-neutral loss of heterozygosity (cnLOH), but the CMA landscape of adult T-ALL has been described in few cohorts. Day +70 measurable residual disease (MRD) is a surrogate marker of early treatment response, available only after induction. Thirty-nine adults with Ph-negative T-ALL on a single protocol underwent diagnostic CMA. Mosaic events were catalogued per chromosome and against a 57-gene panel and described in relation to day +70 MRD status (13 MRD-positive, 25 MRD-negative). The analysis is presented as descriptive without formal inference. Mosaic alterations were present in almost all patients, so groups differed in the amount rather than the presence of genomic change. Complex profiles (≥3 affected chromosomes) were seen in 46.2% of MRD-positive and 20.0% of MRD-negative patients. Biallelic 9p21.3 deletion occurred in both groups, whereas 9p cnLOH without deletion occurred predominantly in MRD-negative patients. Total cnLOH burden did not track with copy-number burden. Copy-number and copy-neutral events are mechanistically distinct and were not interchangeable here: 9p deletion and 9p cnLOH are separable by SNP array and should be reported separately rather than pooled. No association reached significance, although the cohort was too small to detect all but very large effects.
SN - 1422-0067
ER -