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 AM L 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.

Borsellino, B., Savi, A., Pascale, M., Meddi, E., Del Principe, M., Cristiano, A., et al. (2022). An Polycythemia Vera Evolve from Acute Myeloid Leukemia? Report of a Case Showing a Simultaneous Minor JAK2 V617F Mutated Clone. MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES, 14 [10.4084/MJHED.2022.058].

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

Del Principe, MI;Ottone, T;Palmieri, R;Buccisano, F;Voso, MT
2022-01-01

Abstract

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 AM L 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.
2022
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15 - MALATTIE DEL SANGUE
English
Polycythemia vera
Acute myeloid leukemia
JAK2-V617F
TET2
NGS
Borsellino, B., Savi, A., Pascale, M., Meddi, E., Del Principe, M., Cristiano, A., et al. (2022). An Polycythemia Vera Evolve from Acute Myeloid Leukemia? Report of a Case Showing a Simultaneous Minor JAK2 V617F Mutated Clone. MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES, 14 [10.4084/MJHED.2022.058].
Borsellino, B; Savi, A; Pascale, M; Meddi, E; Del Principe, M; Cristiano, A; Ottone, T; Rapanotti, M; Divona, M; Travaglini, S; Attardi, E; Palmieri, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/310879
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