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DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center
Kalene van Engelen1, Anita Villani2,3, Jonathan D Wasserman3,4
1Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Insights
Genetic testing for DICER1 syndrome identified pathogenic variants in 23.9% of probands. Early tumor detection through surveillance protocols is feasible, improving patient outcomes for DICER1-related conditions.
Area of Science:
- Genetics
- Pediatric Oncology
- Rare Diseases
Background:
- DICER1 syndrome is a rare genetic disorder with a complex phenotype.
- Understanding DICER1 variants and associated clinical manifestations is crucial for diagnosis and management.
- Establishing criteria for genetic testing can improve diagnostic yield in at-risk populations.
Purpose of the Study:
- To expand the understanding of DICER1 syndrome.
- To propose genetic testing criteria based on clinical experience.
- To evaluate the effectiveness of surveillance protocols for early tumor detection.
Main Methods:
- Retrospective chart review of 78 patients (47 probands, 31 family members) who underwent DICER1 genetic testing.
- Analysis of genetic variants and associated clinical phenotypes.
- Review of surveillance data for early tumor identification.
Main Results:
- Pathogenic DICER1 variants were identified in 23.9% of probands and 32.0% of family members tested.
- The most common associated tumors were pleuropulmonary blastoma (PPB) and pineoblastoma.
- Surveillance identified early-stage PPB in two asymptomatic individuals, potentially reducing morbidity.
Conclusions:
- The study refines the clinical phenotype of DICER1 syndrome.
- A DICER1 syndrome surveillance protocol is feasible for early tumor detection.
- Early detection through surveillance can improve outcomes for patients with DICER1 syndrome.
Background:
To expand the current knowledge of DICER1 syndrome and to propose criteria for genetic testing based on experience at a pediatric tertiary care center.
Procedure:
This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1.
Results:
Of 47 probands offered genetic testing for DICER1, 46 pursued testing: 11 (23.9%) carried a pathogenic variant and one proband (2.1%) carried a missense variant of uncertain significance with evidence for pathogenicity. Thirty-one family members of variant-positive probands were offered testing: eight of the 25 who agreed to testing carried their familial variant (32.0%). Overall, 20 patients were identified to have a variant in DICER1 (eight males, 12 females). Of these, 13 (65.0%) presented with clinical manifestations associated with the syndrome. The most common lesions were pleuropulmonary blastoma (PPB) (five of 20 patients, 25.0%) and pineoblastoma (three of 20 patients, 15.0%). The average age at which individuals were diagnosed with a primary neoplasm was 5.2 years (range 0.8-20 years, median 3.0). Surveillance at our institution, with a median follow-up time of 23 months, has identified PPB in two asymptomatic individuals. These lesions were identified at early stages, thus potentially reducing treatment-related morbidity and mortality.
Conclusion:
This study further delineates the DICER1 syndrome phenotype and demonstrates the feasibility of a DICER1 syndrome surveillance protocol for the early detection of tumors.
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