Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
J Clin Oncol
; 39(25): 2779-2790, 2021 09 01.
Article
en En
| MEDLINE
| ID: mdl-33945292
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 ANDMETHODS:
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndromes Neoplásicos Hereditarios
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Neoplasias Encefálicas
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Neoplasias Colorrectales
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Enzimas Reparadoras del ADN
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Reparación de la Incompatibilidad de ADN
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Detección Precoz del Cáncer
Tipo de estudio:
Diagnostic_studies
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Guideline
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Clin Oncol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Canadá