DICER1 Syndrome and Tumor Pathology: An Updated Review for Diagnostic Practice.

Updated tumor spectrum and diagnostic algorithm for *DICER1* syndrome

This Advances in Anatomic Pathology review updates knowledge on DICER1 syndrome, an autosomal dominant tumor predisposition caused by pathogenic variants in the microRNA-processing gene DICER1. Since its initial description in families with pleuropulmonary blastoma, the phenotypic spectrum has expanded considerably: thyroid, Sertoli-Leydig tumors, cystic nephroma, pituitary blastoma, embryonal rhabdomyosarcoma of the cervix. A practical diagnostic algorithm for pathologists is proposed.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

DICER1 syndrome is often under-recognized due to its heterogeneous and rare tumor spectrum. A review targeting pathologists is welcome: they are often the first to see unusual surgical specimens that should trigger an oncogenetics referral. The proposed algorithm should help systematize this reflex.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 0/1 · Publication status: 1/1 → Total: 6/10