Observation and treatment in DDX41-mutated acute myeloid leukemia and myelodysplastic syndrome
Aref Al‐Kali, Ahmad Nanaa, David S. Viswanatha, Rong He, Phuong L. Nguyen, Dragan Jevremović, James M. Foran, Cecilia Arana Yi, Patricia T. Greipp, Naseema Gangat, Mrinal M. Patnaik, Ayalew Tefferi, Mark R. Litzow, Abhishek A. Mangaonkar, Mithun Vinod Shah, Talha Badar, Hassan B. Alkhateeb
Abstract
DDX41 , a DEAD/H-box helicase gene located on chromosome 5q35.3, mutation (m) is rarely seen in myeloid neoplasms (1–2%) and is usually associated with myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML) [ 1 , 2 , 3 ]. It has been recently linked to more a favorable outcome despite its presentation with higher grade MDS and AML with higher response rates and long overall survival [ 4 , 5 ]. Additionally, allogeneic hematopoietic cell transplantation (HCT), the only potentially curative option, has been linked to higher non-relapse mortality and therefore potentially to consider delayed HCT at disease progression or relapse [ 4 , 6 ]. Some DDX41 mutations can potentially be of germline origin and such work-up is warranted in these cases [ 7 ]. mDDX41 MDS/AML cases tend to have indolent course, slow progression and higher hemoglobin and platelets indices [ 8 ]. In some of these cases watch and wait” (observation) approach can be attempted if the patient is stable with reasonable blood counts. We therefore report our single institution experience of “observation” vs active treatment and the outcome of both groups. We believe this is the first report to review this approach.