Diagnosing familial platelet disorder with predisposition to myeloid malignancy: Lessons learned from a germline whole‐gene deletion of RUNX1.

Autor: Cliburn, John A., Uy, Jann C., Swift, Sharon, Liesveld, Jane L., Iqbal, M. Anwar, Jajosky, Audrey N., Becker, Michael W.
Předmět:
Zdroj: International Journal of Laboratory Hematology; Feb2024, Vol. 46 Issue 1, p203-206, 4p
Abstrakt: The article describes the case of a 40-year-old man with a history of idiopathic thrombocytopenia and diagnosed with familial platelet disorder (FPD) with predisposition to myeloid malignancy (MM). Topics discussed include lessons about FPD-MM and how to improve diagnosis highlighted by the case, the difficulty of recognizing FPD-MM, and implications of identifying individuals with FPD-MM and related carriers for both treatment and long-term management.
Databáze: Complementary Index