De Novo polycythaemia vera arising 5 years following acute myeloid leukemia remission: suggestion of a chemotherapy resistant JAK2 clone

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

“…Regarding our case, the lack of additional somatic mutations could neither support nor exclude this hypothesis. Furthermore, the idea of a favorable environment for the expansion of a preexisting JAK2 V617F clone [5] is not contradictory to our case since the JAK2 V617F clone could have been below detection limit at AML diagnosis. Finally, the two hematological diseases could represent transformation of two completely independent stem cell clones.…”

“…However, how JAK2 and other MPN-associated mutations contribute to disease progression is still the subject of debate [2,3,4]. In contrast, JAK2-positive MPN as secondary neoplasia occurring after AML is a rare clinical observation with only few case reports in the literature [5,6] and little is known about the underlying pathophysiology. Here we report the unique case of a 62-year-old patient with secondary MPN harboring JAK2 V617F, which presented with isolated thrombocytosis 4 years after successful treatment with chemotherapy of a JAK2-negative AML.…”

DNMT3A, TET2, and JAK2 mutations in polycythemia vera following long-term remission of secondary acute myeloid leukemia

“…On the contrary, PV/MPN developing after the diagnosis of AML is very rarely reported. In several reports, 10-12 it has been suggested that the JAK2 clone was present at the time of initial diagnosis of AML, expanded over time, and led to the development of PV, 3-5 years following achievement of remission of AML despite intensive chemotherapy given for the treatment of AML.…”

A Rare Case of Polycythemia Vera Following Acute Undifferentiated Leukemia Remission

“…However, in de novo AML patients, the JAK2 V617F mutation is only found in 2.3% of patients with the AML-M2 subtype with t(8;21) or the AML-M4 subtype with a normal karyotype [7]. To the best of our knowledge, few cases have been reported where PV developed after AML treatment [2, 8, 9, 10]. In our case, the patient was initially diagnosed as having acute undifferentiated leukemia characterized by the JAK2 V617F mutation, and we hypothesize that the JAK2 V617F clone may have expanded following chemotherapy.…”

“…In our case, the patient was initially diagnosed as having acute undifferentiated leukemia characterized by the JAK2 V617F mutation, and we hypothesize that the JAK2 V617F clone may have expanded following chemotherapy. In support of this hypothesis, Portell et al [9] suggested that standard AML induction chemotherapy offers a suitable environment for JAK2 -mutant clones to expand, either through direct transition of the BM stroma or removal of the AML clone. We carried out allele-specific real-time quantitative PCR and found that the allelic burden had increased by the time of PV diagnosis compared with that at the time of AML diagnosis.…”