Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
Adolescent
Adult
Brain Neoplasms
/ diagnosis
Child
Child, Preschool
Colorectal Neoplasms
/ diagnosis
DNA Mismatch Repair
DNA Repair Enzymes
/ deficiency
Early Detection of Cancer
/ methods
Female
Follow-Up Studies
Humans
Male
Neoplastic Syndromes, Hereditary
/ diagnosis
Population Surveillance
Prognosis
Prospective Studies
Survival Rate
United States
/ epidemiology
Young Adult
Journal
Journal of clinical oncology : official journal of the American Society of Clinical Oncology
ISSN: 1527-7755
Titre abrégé: J Clin Oncol
Pays: United States
ID NLM: 8309333
Informations de publication
Date de publication:
01 09 2021
01 09 2021
Historique:
pubmed:
5
5
2021
medline:
23
11
2021
entrez:
4
5
2021
Statut:
ppublish
Résumé
Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Tumor spectrum, efficacy of the surveillance protocol, and malignant transformation of low-grade lesions were examined for the entire cohort. Survival outcomes were analyzed for patients followed prospectively from the time of surveillance implementation. A total of 193 malignant tumors in 110 patients were identified. Median age of first cancer diagnosis was 9.2 years (range: 1.7-39.5 years). For patients undergoing surveillance, all GI and other solid tumors, and 75% of brain cancers were detected asymptomatically. By contrast, only 16% of hematologic malignancies were detected asymptomatically ( Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
Identifiants
pubmed: 33945292
doi: 10.1200/JCO.20.02636
pmc: PMC8407605
doi:
Substances chimiques
DNA Repair Enzymes
EC 6.5.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2779-2790Subventions
Organisme : CIHR
Pays : Canada
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