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.

Analysis by Dr Thibaut Benquey