Paediatrics Publications
Document Type
Article
Publication Date
12-2020
Journal
Neuro-Oncology
Volume
22
Issue
Supplement_3
First Page
iii445
Last Page
iii446
URL with Digital Object Identifier
https://doi.org/10.1093/neuonc/noaa222.728
Abstract
BACKGROUND
Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS
We surveyed all confirmed CMMRD patients in the International Replication Repair Deficiency Consortium. A surveillance protocol consisting of frequent biochemical, endoscopic and imaging (CNS and total body MRI) studies were employed. Survival analyses and efficacy of each method were assessed. RESULTS
Surveillance data were collected from 105 CMMRD individuals from 41 countries. Of the 193 malignant tumors, CNS malignancies were the most common (44%). The surveillance protocol uncovered 49 asymptomatic tumors including 16 glioblastomas and medulloblastomas. Five-year overall survival was 89% for tumors discovered by surveillance, and 61% for symptomatic tumors (p<0.004). Similarly, 5-year survival was 82+/-11% and 24+/-6% for surveillance and non-surveillance of brain tumors (p=0.005). Yearly total body and q6 month brain MRI detected asymptomatic cancers in all but 3 symptomatic CNS gliomas. These were tumors uncovered when time between scans was >6 months as per protocol. Finally, of the low grade tumors identified asymptomatically, 5 were low grade gliomas. All of the low grade gliomas, which were not resected transformed to high grade tumors at a median of 1.6 ± 0.9 years. CONCLUSION
These data support a survival benefit in CMMRD patients undergoing a surveillance protocol. Adherence to protocol and resection of lower grade lesions may improve survival for patients with CNS tumors.
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License
Notes
See the pdf or publisher page for all authors.
This is an abstract from the 19th International Symposium on Pediatric Neuro-Oncology (ISPNO 2020), first published in the journal Neuro-Oncology and available at https://doi.org/10.1093/neuonc/noaa222.728.