Case Reports
Vol. 14 No. 1 (2022): Review Articles, Original Article, Scientific Letter, Case Reports Letter to the Editor
Can Polycythemia Vera evolve from Acute Myeloid Leukemia? A Case Report Showing a Simultaneous Minor JAK2 V617F Mutated Clone,
De novo polycythemia vera following AML remission
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: April 7, 2022
Accepted: June 2, 2022
Accepted: June 2, 2022
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Evolution of myeloproliferative neoplasms (MPN) to acute myeloid leukemia (AML) occurs in 2-10% of patients, whereas the reverse path from AML to MPN has been rarely reported.
We herein present a 75-year-old woman with AML, in whom a JAK2-V617F positive polycythemia vera (PV) emerged during follow-up, 19 months from end of consolidation treatment.
JAK2-V617F mutation screening retrospectively performed by Next Generation Sequencing (NGS) and JAK2 MutaScreen was negative on the bone marrow sample collected at AML diagnosis. However, using droplet digital PCR (ddPCR), we detected a minor JAK2-V617F mutated clone present at AML onset. A TET2 R550 mutated clone persisted at stable levels throughout the disease course.
This case shows that a very small MPN clone masked at AML diagnosis may expand after treatment end, and be erroneously interpreted as MPN evolving from AML. Very sensitive techniques as ddPCR may help to unravel the true disease history in these cases.
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Citations
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How to Cite
“Can Polycythemia Vera evolve from Acute Myeloid Leukemia? A Case Report Showing a Simultaneous Minor JAK2 V617F Mutated Clone,: De novo polycythemia vera following AML remission” (2022) Mediterranean Journal of Hematology and Infectious Diseases, 14(1), p. e2022058. doi:10.4084/MJHID.2022.058.
Copyright (c) 2022 Beatrice Borsellino, Arianna Savi, Maria Rosaria Pascale, Elisa Meddi, Antonio Cristiano, TIZIANA OTTONE, Maria Cristina Rapanotti, Mariadomenica Divona, SERENA TRAVAGLINI, Enrico Attardi, Elisa Buzzatti, Francesco Buccisano, Maria Teresa Voso
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