Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
In: Paediatrics Publications, 2021
Online
academicJournal
Zugriff:
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.
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Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
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Autor/in / Beteiligte Person: | Durno, Carol ; Ercan, Ayse Bahar ; Bianchi, Vanessa ; Edwards, Melissa ; Aronson, Melyssa ; Galati, Melissa ; Atenafu, Eshetu G. ; Abebe-Campino, Gadi ; Al-Battashi, Abeer ; Alharbi, Musa ; Azad, Vahid Fallah ; Baris, Hagit N. ; Basel, Donald ; Bedgood, Raymond ; Bendel, Anne ; Ben-Shachar, Shay ; Blumenthal, Deborah T. ; Blundell, Maude ; Bornhorst, Miriam ; Bronsema, Annika ; Cairney, Elizabeth ; Rhode, Sara ; Caspi, Shani ; Chamdin, Aghiad ; Chiaravalli, Stefano ; Constantini, Shlomi ; Crooks, Bruce ; Das, Anirban ; Dvir, Rina |
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Zeitschrift: | Paediatrics Publications, 2021 |
Veröffentlichung: | Scholarship@Western, 2021 |
Medientyp: | academicJournal |
DOI: | 10.1200/JCO.20.02636 |
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