Effect of implementation of a clinical checklist on the evaluation of constitutional mismatch repair deficiency in a neurofibromatosis clinic

Abstract

BACKGROUND: Children with constitutional mismatch repair deficiency (CMMRD) require early and intensive cancer surveillance. Due to phenotypic overlap between CMMRD and neurofibromatosis type 1 (NF1), some children with CMMRD receive an incorrect diagnosis of NF1 and are inappropriately managed for their cancer risk. This study evaluated the effectiveness of a clinical checklist in identifying individuals for whom CMMRD evaluation is recommended. PROCEDURE: Providers in a neurofibromatosis clinic implemented published CMMRD evaluation checklists into their clinical notes. Phase 1 of the study consisted of retrospective chart review prior to incorporation of the checklist. Phase 2 consisted of prospective chart review after checklist implementation. RESULTS: Phase 1 included 81 patients; Phase 2 included 60 patients. In Phase 2, ambiguous ("Unknown") checklist responses were reduced, and patients were more likely to meet criteria for CMMRD evaluation. Individuals in Phase 2 were more likely to be referred for genetic evaluation compared to Phase 1. There was no correlation between patients meeting criteria for CMMRD evaluation and being referred to genetics in either cohort. CONCLUSIONS: These results suggest a clinical CMMRD checklist is a useful tool for identifying individuals for whom CMMRD evaluation is recommended. Patients with a nondiagnostic NF1 workup who meet CMMRD evaluation criteria require further follow-up to aid in appropriate diagnosis and management.

The authors' abstract, as published at the source. Journal of Community Genetics, 2026 · DOI ↗