DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

Area of Science:

• Genetics
• Oncology
• Pediatric Surgery

Background:

• DICER1 syndrome is a rare genetic disorder linked to malignant and non-malignant diseases.
• Late diagnosis, often post-surgery, negatively impacts patient outcomes, particularly concerning subsequent neoplasms.
• There is a need for enhanced post-surgical surveillance strategies for DICER1 syndrome.

Purpose of the Study:

• To present a multicenter report on DICER1 syndrome.
• To investigate methods for enhancing post-surgical surveillance in affected patients.
• To compare findings from a novel patient cohort with existing literature.

Main Methods:

• A cohort of seven patients was analyzed from surgical registries at multiple Italian universities.
• Data collected included demographics, clinical features, familial history, genetic investigations, and follow-up.
• A comprehensive literature review of DICER1 cases from 1996 to June 2022 was conducted.

Main Results:

• Analysis of the seven-patient cohort and comparison with literature data.
• Identification of key clinical features and diagnostic timelines.
• Evaluation of the effectiveness of current diagnostic and surveillance practices.

Conclusions:

• Multicenter data collection and literature review provide insights into DICER1 syndrome management.
• Enhanced post-surgical surveillance is essential for early detection of neoplasms in DICER1 patients.
• This study aims to improve diagnostic timing and patient outcomes for DICER1 syndrome.