A multicenter observational cohort study in survivors of Down Syndrome-associated acute leukemia (ALTE22C1): a report from the Children’s Oncology Group

Down syndrome (DS) is a common genetic disorder resulting from an extra copy of genetic material from all or part of chromosome 21. Individuals with DS have a higher burden of co-occurring structural birth defects, neurocognitive delay, and chronic health conditions when compared to those without DS, as well as a 10 to 20-fold excess risk for acute leukemia (AL). Few studies have reported the late effects of cancer treatment in DS-AL survivors, and even fewer have compared outcomes to children with DS and no cancer history. The Children’s Oncology Group study ALTE22C1 was developed to address this knowledge gap. This study leverages both registry and site-based DS-AL survivor recruitment and a prospective/retrospective cohort design to compare chronic health conditions and neurocognitive outcomes experienced by DS-AL survivors to age and sex-matched individuals enrolled to a DS cohort for which cancer is exclusionary. Survivors 6–39 years old, ≥ 3 years from end of AL treatment, and in remission are eligible. Participants complete a medical conditions survey and neuropsychological battery by parent proxy and may also participate in an in-person physical and neurocognitive assessment. Biological samples are collected to evaluate molecular features associated with outcomes. This cooperative group study will identify the prevalence and severity of medical and neurocognitive outcomes in DS-AL survivors compared with non-DS AL and DS controls without cancer history. Results are anticipated to inform clinical practice guidelines for DS-AL survivors and improve survivor outcomes through mitigation of outcome disparities in this vulnerable population. Children’s Oncology Group study ALTE22C1 is registered under the ClinicalTrials.gov identifier NCT05702645.

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Publication Details

Journal
BMC Cancer
Published
2025-10-20
DOI
https://doi.org/10.1186/s12885-025-14898-z
Primary Topic
Childhood Cancer Survivors' Quality of Life
Type
article
Field-Weighted Citation Impact
0.00

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article

A multicenter observational cohort study in survivors of Down Syndrome-associated acute leukemia (ALTE22C1): a report from the Children’s Oncology Group

Ravi Bhatia, Karen R. Rabin, Tracie C. Rosser, Anupam Verma et al.
BMC Cancer
Childhood Cancer Survivors' Quality of Life
article

A multicenter observational cohort study in survivors of Down Syndrome-associated acute leukemia (ALTE22C1): a report from the Children’s Oncology Group

Ravi Bhatia, Karen R. Rabin, Tracie C. Rosser, Anupam Verma, Eric J. Chow, Johann Hitzler, Paul Craig Nathan, Maria Monica Gramatges, Lisa M. Jacola, Amanda M. Li, Michelle M. Nuño, Lauren Sanclemente, Philip J. Lupo, Maureen M. O’Brien, Kelly Getz, Lacey Hall, Olga A. Taylor, Melissa A. Richard, Angela Yarbrough, Kathy McCloskey, Serina Patel
article en

Abstract

Down syndrome (DS) is a common genetic disorder resulting from an extra copy of genetic material from all or part of chromosome 21. Individuals with DS have a higher burden of co-occurring structural birth defects, neurocognitive delay, and chronic health conditions when compared to those without DS, as well as a 10 to 20-fold excess risk for acute leukemia (AL). Few studies have reported the late effects of cancer treatment in DS-AL survivors, and even fewer have compared outcomes to children with DS and no cancer history. The Children’s Oncology Group study ALTE22C1 was developed to address this knowledge gap. This study leverages both registry and site-based DS-AL survivor recruitment and a prospective/retrospective cohort design to compare chronic health conditions and neurocognitive outcomes experienced by DS-AL survivors to age and sex-matched individuals enrolled to a DS cohort for which cancer is exclusionary. Survivors 6–39 years old, ≥ 3 years from end of AL treatment, and in remission are eligible. Participants complete a medical conditions survey and neuropsychological battery by parent proxy and may also participate in an in-person physical and neurocognitive assessment. Biological samples are collected to evaluate molecular features associated with outcomes. This cooperative group study will identify the prevalence and severity of medical and neurocognitive outcomes in DS-AL survivors compared with non-DS AL and DS controls without cancer history. Results are anticipated to inform clinical practice guidelines for DS-AL survivors and improve survivor outcomes through mitigation of outcome disparities in this vulnerable population. Children’s Oncology Group study ALTE22C1 is registered under the ClinicalTrials.gov identifier NCT05702645.

BMC CancerVol. 25(1)
St. Jude Children's Research Hospital (US), Children's National (US), The University of Texas MD Anderson Cancer Center (US), University of British Columbia (CA), Emory University (US), University of California, San Francisco (US), Baylor College of Medicine (US), University of Michigan (US), London Health Sciences Centre (CA), Hospital for Sick Children (CA), University of Alabama at Birmingham (US), Fred Hutch Cancer Center (US), Children's Hospital Colorado (US), Seattle Children's Hospital (US), Virginia Cancer Specialists (US), Children's Oncology Group (US), Texas Children's Hospital (US), BC Children's Hospital (CA), University of Colorado Anschutz Medical Campus (US), University of Pennsylvania (US), University of Colorado Denver (US)
National Institutes of Health, National Cancer Institute
Openalex Percentile: Top 58%
Childhood Cancer Survivors' Quality of Life
DOIOpen Access PDFOpenAlex
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