Fig. 7: Proposed diagnostic algorithm for mesenchymal tumors with DICER1 alteration.
From: Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
Consideration of clinical features and histopathology together with the identification of a DICER1 hotspot pathogenic variant is usually sufficient to classify DICER1-associated mesenchymal neoplasms. However, in diagnostically challenging cases ancillary molecular studies may aid tumor classification. Diagnosis of a mesenchymal tumor with DICER1 alteration should always promt germline testing for DICER1 syndrome.
