Pediatric imaging in DICER1 syndrome.

Area of Science:

• Pediatric Oncology
• Medical Genetics
• Diagnostic Imaging

Background:

• DICER1 syndrome is a genetic disorder linked to increased risk of various benign and malignant tumors.
• Mutations in the DICER1 gene on chromosome 14q32 are the underlying cause.
• Early identification and characterization of associated neoplasms are crucial for patient management.

Purpose of the Study:

• To comprehensively determine the spectrum of abnormalities associated with DICER1 syndrome.
• To characterize the distinct imaging features of these abnormalities in pediatric patients.
• To evaluate imaging findings in patients with DICER1 germline variants.

Main Methods:

• Retrospective analysis of imaging data from pediatric patients (≤18 years) with confirmed DICER1 germline variants.
• Inclusion criteria spanned January 2004 to July 2016.
• Imaging database searches utilized keywords for known DICER1-associated tumors, cross-referenced with institutional databases.

Main Results:

• Sixteen pediatric patients (mean age 4.2 years) were analyzed, with 68.8% presenting malignant lesions and 37.5% benign lesions.
• Malignant neoplasms included pleuropulmonary blastoma, pineoblastoma, and rhabdomyosarcoma; benign included cystic nephroma and thyroid nodules.
• A characteristic "cracked windshield" sign was noted across various imaging modalities and affected organs.

Conclusions:

• The diverse spectrum of DICER1-related tumors and early onset underscore the importance of timely surveillance in at-risk children.
• Minimizing ionizing radiation exposure during surveillance is a key consideration.
• Understanding imaging characteristics aids in early diagnosis and management of DICER1 syndrome.