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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
- Source :
- Paediatrics Publications, Journal of Clinical Oncology, Vol. 39, no.25, p. 2779-2790 (2021)
- Publication Year :
- 2021
- Publisher :
- American Society of Clinical Oncology (ASCO), 2021.
-
Abstract
- PURPOSE 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. PATIENTS AND METHODS 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. RESULTS 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 ( P < .001). Eighty-nine patients were followed prospectively and used for survival analysis. Five-year overall survival (OS) was 90% (95% CI, 78.6 to 100) and 50% (95% CI, 39.2 to 63.7) when cancer was detected asymptomatically and symptomatically, respectively ( P = .001). Patient outcome measured by adherence to the surveillance protocol revealed 4-year OS of 79% (95% CI, 54.8 to 90.9) for patients undergoing full surveillance, 55% (95% CI, 28.5 to 74.5) for partial surveillance, and 15% (95% CI, 5.2 to 28.8) for those not under surveillance ( P < .0001). Of the 64 low-grade tumors detected, the cumulative likelihood of transformation from low-to high-grade was 81% for GI cancers within 8 years and 100% for gliomas in 6 years. CONCLUSION Surveillance and early cancer detection are associated with improved OS for individuals with CMMRD.
- Subjects :
- Adult
Male
0301 basic medicine
Oncology
Cancer Research
medicine.medical_specialty
Adolescent
MEDLINE
DNA Mismatch Repair
Young Adult
03 medical and health sciences
0302 clinical medicine
Neoplastic Syndromes, Hereditary
Internal medicine
medicine
Humans
Prospective Studies
Child
Early Detection of Cancer
Hematology
Brain Neoplasms
business.industry
Cancer predisposition
Prognosis
United States
Survival Rate
DNA Repair Enzymes
030104 developmental biology
Survival benefit
Child, Preschool
Population Surveillance
030220 oncology & carcinogenesis
MISMATCH REPAIR DEFICIENCY
Female
Colorectal Neoplasms
business
Follow-Up Studies
Subjects
Details
- ISSN :
- 15277755 and 0732183X
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Oncology
- Accession number :
- edsair.doi.dedup.....cc31eca9b2efe8b55ac14084ca85e170