An Polycythemia Vera Evolve from Acute Myeloid Leukemia? Report of a Case Showing a Simultaneous Minor JAK2 V617F Mutated Clone

• Published in: Mediterranean journal of hematology and infectious diseases Vol. 14; no. 1
• Main Authors: Borsellino, Beatrice, Savi, Arianna, Pascale, Maria Rosaria, Meddi, Elisa, Del Principe, Maria Ilaria, Cristiano, Antonio, Ottone, Tiziana, Rapanotti, Maria Cristina, Divona, Mariadomenica, Travaglini, Serena, Attardi, Enrico, Palmieri, Raffaele, Buzzatti, Elisa, Buccisano, Francesco, Voso, Maria Teresa
• Format: Journal Article
• Language: English
• Published: Università Cattolica del Sacro Cuore 01-07-2022
• Subjects: Case Report
• ISSN: 2035-3006
• DOI: 10.4084/MJHID.2022.058

The evolution of myeloproliferative neoplasms (MPN) to acute myeloid leukemia (AML) occurs in 2–10% of patients, depending on the MPN subtype, treatment, and follow-up length. The reverse-path from AML to MPN has been rarely reported.
We herein present a 75 years old woman with AML, in whom a
JAK2
-V617F positive polycythemia vera (PV) emerged during follow-up, 19 months from the 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 digital droplet PCR (ddPCR), we detected a minor
JAK2
V617F mutated clone at AML onset. In addition, 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 such as ddPCR may help to unravel the true disease history in these cases.