JAK2 V617F-Mutated Myeloproliferative Neoplasia Developing Five Years after Wild-Type JAK2 Acute Myeloid Leukemia: A Case Report

Girsberger, Sabine; Karow, Axel; Lundberg, Pontus; Dirnhofer, Stephan; Lehmann, Thomas; Passweg, Jakob; Thewis, André; Skoda, Radek C.; Rovo, Alicia

doi:10.1159/000342100

Cited by 1 publication

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References 18 publications

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“…Nearly all those cases reported have occurred in AML patients in long-term remission after chemotherapy or autologous stem cell transplantation and where retrospective genotyping of the AML presentation material was performed, demonstrating the absence of the JAK2 V617F mutation [ 5 – 8 ]. Molecular investigation of another case suggested that the MPN may be secondary to the AML [ 9 ]. A case is described of a patient developing a JAK2 V617F-positive MPN when in remission of AML for seven years and in whom retrospective molecular investigation was able to unravel the evolutionary trajectory of the MPN.…”

Section: Introductionmentioning

confidence: 99%

Protracted Clonal Trajectory of a JAK2 V617F-Positive Myeloproliferative Neoplasm Developing during Long-Term Remission from Acute Myeloid Leukemia

Langabeer

Haslam

Quinn

et al. 2018

Case Reports in Hematology

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Although transformation of the myeloproliferative neoplasms (MPNs) to acute myeloid leukemia (AML) is well documented, development of an MPN in patients previously treated for, and in remission from, AML is exceedingly rare. A case is described in which a patient was successfully treated for AML and in whom a JAK2 V617F-positive MPN was diagnosed after seven years in remission. Retrospective evaluation of the JAK2 V617F detected a low allele burden at AML diagnosis and following one course of induction chemotherapy. This putative chemoresistant clone subsequently expanded over the intervening seven years, resulting in a hematologically overt MPN. As AML relapse has not occurred, the MPN may have arose in a separate initiating cell from that of the AML. Alternatively, both malignancies possibly evolved from a common precursor defined by a predisposition mutation with divergent evolution into MPN through acquisition of the JAK2 V617F and AML through acquisition of different mutations. This case emphasizes the protracted time frame from acquisition of a disease-driving mutation to overt MPN and further underscores the clonal complexity in MPN evolution.

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Section: Introductionmentioning

confidence: 99%