Identification of a Novel KRAS::ETNK1 Fusion Transcript in a Myelodysplastic/Myeloproliferative Overlap Syndrome With Eosinophilia: A Case Report
Marianne Caledec, Hélène Labussière‐Wallet, Juliette Fontaine, Marie Larcher, Fiorenza Barraco, Marie Balsat, Anne‐Marie Daull, Zofia Gross, Juliette Helluin, Sandrine Loron, Lila Gilis, Sophie Ducastelle‐Lepretre, Gaelle Fossard, Mael Heiblig, Pierre Sujobert, Morgane Fontaine, Sandrine Hayette, Vincent AlcazerABSTRACT
This work describes, to our knowledge, the first reported case of a patient with an MDS/MPN overlap syndrome harboring a novel KRAS::ETNK1 fusion transcript. The disease initially presented with eosinophilia, megakaryocyte expansion, mast cell infiltration, and a background of typical MDS/MPN‐associated mutations ( ASXL1 , TET2 , EZH2 , BCOR , and SETBP1 ). Following allogeneic hematopoietic stem cell transplantation, the fusion‐bearing clone disappeared due to a chromosome 12p deletion, and the disease evolved into secondary AML with distinct molecular drivers (MYB, EP300, FAT1, and GATA2). This case provides new insights into rare genetic alterations in MDS/MPN, possible mechanisms of immune‐mediated clonal selection after allogeneic stem cell transplantation, and the dynamics of leukemic evolution.
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