English 
Italian Monitoraggio molecolare di Isocitrato Deidrogenasi 2 in paziente con Leucemia Mieloide Acuta recidivata
Molecular monitoring of Isocitrate Dehydrogenase 2 in a patient with relapsed Acute Myeloid Leukemia
AUTORI
Giulia Tarrini1, Edoardo Benedetti2, Francesco Caracciolo2, Sara Galimberti2, Maria Rita Metelli1
1Laboratorio di Biologia Molecolare, Unità Operativa Ematologia, Azienda Ospedaliero Universitaria Pisana, Pisa
2Dipartimento di Medicina Clinica e Sperimentale, Sezione di Ematologia, Università di Pisa
ABSTRACT
Molecular monitoring of Isocitrate Dehydrogenase 2 in a patient with relapsed Acute Myeloid Leukemia
Isocitrate Dehydrogenase 2 (IDH2) mutations are reported in about 20% of Acute Myeloid Leukemia (AML) and they are promising Minimal/Measurable Residual Disease (MRD) molecular markers because of the possible therapy whit the inhibitor Enasidenib. A man with a diagnosis of AML, negative for the common molecular markers, resulted in complete remission (CR) only after three induction cycles. The patient underwent a transplant procedure but after 7 months a relapse was observed. We retrospectively studied the status of IDH2 mutation in this patient which was positive at diagnosis (29%), after two induction cycles and at the allogeneic transplantation (2%). In the next follow-up, both WT1 and IDH2 were normal. After 3 months, when the patient was in CR and WT1 was still normal, IDH2 resulted 0.12%. After further 2 months, the patient clinically relapsed; at that time, WT1 was very high and IDH2 was 7.8%. In this case, IDH2 monitoring by Droplet Digital PCR (ddPCR) predicted relapse two months before WT1 levels and clinical evidence.