AJMP2104 - CME/CMLE - Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms-Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms

Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms

Pdf Summary

The article explores the clinical and pathological spectrum of DDX41-mutated hematolymphoid neoplasms. Identified mutations were present in 1.4% of cases, including AML, MDS, and other malignancies. The study highlights the morphological heterogeneity of DDX41-mutated neoplasms and the importance of routine DDX41 testing in diagnosing hematolymphoid neoplasms. DDX41, an RNA helicase gene, is involved in RNA metabolism and innate immunity. Germline DDX41 mutations have been associated with familial myeloid neoplasms. The study identified novel DDX41 germline mutations, emphasizing the need for comprehensive genetic evaluation. The research sheds light on the clinicopathologic features, molecular findings, and outcomes of DDX41-mutated disorders. The findings underscore the complexity of DDX41-associated malignancies and suggest a role in lymphoid and plasma cell neoplasms. Despite challenges in distinguishing somatic vs germline mutations, the study advocates for DDX41 testing in de novo cases of MDS and AML. The article also discusses the importance of recognizing underlying inherited syndromes in patient management and the lack of distinctive markers for DDX41-mutated hematolymphoid neoplasms. The research contributes valuable insights into the genetic predisposition and clinical implications of DDX41 mutations, emphasizing the need for further studies in this field.

Keywords

DDX41-mutated hematolymphoid neoplasms

clinical spectrum

pathological spectrum

RNA helicase gene

innate immunity

germline mutations

familial myeloid neoplasms

comprehensive genetic evaluation

molecular findings

lymphoid and plasma cell neoplasms