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

• Published in: Mediterranean journal of hematology and infectious diseases Vol. 14; no. 1; p. e2022058
• Main Authors: Borsellino, Beatrice, Savi, Arianna, Pascale, Maria Rosaria, Meddi, Elisa, Cristiano, Antonio, OTTONE, TIZIANA, Rapanotti, Maria Cristina, Divona, Mariadomenica, TRAVAGLINI, SERENA, Attardi, Enrico, Buzzatti, Elisa, Buccisano, Francesco, Voso, Maria Teresa
• Format: Journal Article
• Language: English
• Published: 29-06-2022
• ISSN: 2035-3006; 2035-3006
• DOI: 10.4084/MJHID.2022.058

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.