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Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
Felix K F Kommoss1, Anne-Sophie Chong2,3,4, Anne-Laure Chong2,3,5
1Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Abstract:
DICER1 syndrome is a tumor predisposition syndrome that is associated with up to 30 different neoplastic lesions, usually affecting children and adolescents. Here we identify a group of mesenchymal tumors which is highly associated with DICER1 syndrome, and molecularly distinct from other DICER1-associated tumors. This group of DICER1-associated mesenchymal tumors encompasses multiple well-established clinicopathological tumor entities and can be further divided into three clinically meaningful classes designated "low-grade mesenchymal tumor with DICER1 alteration" (LGMT DICER1), "sarcoma with DICER1 alteration" (SARC DICER1), and primary intracranial sarcoma with DICER1 alteration (PIS DICER1). Our study not only provides a combined approach to classify DICER1-associated neoplasms for improved clinical management but also suggests a role for global hypomethylation and other recurrent molecular events in sarcomatous differentiation in mesenchymal tumors with DICER1 alteration. Our results will facilitate future investigations into prognostication and therapeutic approaches for affected patients.
Insights
DICER1 syndrome, a rare genetic disorder, is linked to a new category of mesenchymal tumors. This discovery aids in classifying and managing these rare cancers in affected children and adolescents.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- DICER1 syndrome predisposes individuals to numerous neoplastic lesions, primarily affecting pediatric and adolescent populations.
- Existing classifications do not fully capture the spectrum of DICER1-associated tumors, particularly mesenchymal types.
Purpose of the Study:
- To identify and molecularly characterize a distinct group of mesenchymal tumors associated with DICER1 syndrome.
- To establish a refined classification system for these DICER1-associated mesenchymal tumors for improved clinical utility.
Main Methods:
- Comprehensive clinicopathological analysis of mesenchymal tumors in patients with DICER1 syndrome.
- Molecular profiling to identify distinct genetic and epigenetic alterations.
Main Results:
- Identification of a novel group of mesenchymal tumors strongly associated with DICER1 alterations, molecularly distinct from other DICER1-related neoplasms.
- Classification of these tumors into three clinically relevant categories: low-grade mesenchymal tumor with DICER1 alteration (LGMT DICER1), sarcoma with DICER1 alteration (SARC DICER1), and primary intracranial sarcoma with DICER1 alteration (PIS DICER1).
- Evidence suggesting global hypomethylation and other molecular events contribute to sarcomatous differentiation in DICER1-altered mesenchymal tumors.
Conclusions:
- The study proposes a unified classification for DICER1-associated mesenchymal tumors, enhancing diagnostic accuracy and clinical management.
- Findings highlight the role of specific molecular events in the pathogenesis of these rare tumors.
- This work provides a foundation for future research into prognostication and targeted therapies for patients with DICER1 syndrome.
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