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Case Reports
. 2022 Jul 1;14(1):e2022058.
doi: 10.4084/MJHID.2022.058. eCollection 2022.

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

Beatrice Borsellino  1   2 , Arianna Savi  1 , Maria Rosaria Pascale  1 , Elisa Meddi  1 , Maria Ilaria Del Principe  1 , Antonio Cristiano  1 , Tiziana Ottone  1   3 , Maria Cristina Rapanotti  1   4 , Mariadomenica Divona  1   5 , Serena Travaglini  1 , Enrico Attardi  1 , Raffaele Palmieri  1 , Elisa Buzzatti  1 , Francesco Buccisano  1 , Maria Teresa Voso  1   3
Affiliations
Case Reports

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

Beatrice Borsellino et al. Mediterr J Hematol Infect Dis. .

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 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.

Keywords: Acute myeloid leukemia; JAK2 -V617F; NGS; Polycythemia vera; TET2.

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Conflict of interest statement

Competing interests: The authors declare no conflict of Interest.

Figures

Figure 1
Figure 1
Increase in hemoglobin and hematocrit after AML chemotherapy, while the patient was in CR. Progressive increase of hemoglobin and hematocrit until August 2021, when the patient started to be treated with phlebotomies and hydroxiurea. AML: acute myeloid leukemia. CR: complete remission. HCT: hematocrit (%). HB: hemoglobin (g/dl).
Figure 2
Figure 2
Fish plot showing variation of mutations over time. Variant Allele Frequency by NGS (Percentage of sequence reads observed matching a specific DNA variant divided by the overall coverage at that locus); FA: Fractional abundance by ddPCR (Absolute quantification of mutant clone divided by the absolute quantification of mutant in addition to wild type clones); AML: Acute Myeloid Leukemia; PV: Polycythemia Vera.
Figure 3
Figure 3
Droplet digital PCR assay for JAK2 V617F mutation detection in BM-MNCs during the disease course. Profile of JAK2 V617F of the sequential samples at diagnosis and follow-up, analyzed by ddPCR. Representative 1-D plots of the ddPCR amplification of a JAK2 V617F mutant (left panel) and a JAK2 wild-type allele (right panel). The pink line indicates the threshold. NTC: no template control.
See this image and copyright information in PMC

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