Chronic myelogenous leukemia in patients with <i><scp>MPL</scp></i> or <i><scp>JAK</scp>2</i> mutation‐positive myeloproliferative neoplasm

Chen, Z.; Wang, W.; Verstovšek, Srđan; Cortes, Jorge; Medeiros, L. Jeffrey; Hu, Shimin

doi:10.1111/ijlh.12398

Cited by 7 publications

(2 citation statements)

References 14 publications

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“…At CML occurrence, WBC increase was the most common laboratory sign, observed in 38 of 42 cases with available data (4-43, 45-51), followed by anemia in 17/42 (6, 16, 17, 23, 27, 31, 37-39, 45, 50); basophilia in 17-42 (6,13,17,23,27,35,38,41,45,(47)(48)(49)(50); PTL decrease in 9/42 (13,27,(37)(38)(39)45); leukoerythroblastosis in 7/42 (17,31,43,45,48); PTL increase in 6/42 (6,22,23,37,39,48); eosinophilia in 6/42 (13,41,45,47,48), and LDH increase in 2/42 (27,48). In this group, splenomegaly was detected in just under half of cases (20/42) (6,8,13,16,17,23,27,28,31,32,43,…”

Section: Group 1 (Ph-negative Mpn Preceding Cml): Clinical Symptoms A...mentioning

confidence: 99%

Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination

Zanelli,

Bisagni,

Sanguedolce

et al. 2024

Front. Oncol.

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Myeloproliferative neoplasms (MPNs) are classified into Philadelphia (Ph) chromosome–positive chronic myeloid leukemia (CML) and Ph-negative MPNs. BCR::ABL1 translocation is the key genetic event of CML, whereas JAK2/MPL/CALR mutations are molecular aberrations of Ph-negative MPNs. Despite initially considered mutually exclusive genetic aberrations, the co-occurrence of BCR::ABL1 and JAK2 has been reported in a limited number of cases. The two genetic alterations may be identified either at the same time or JAK2 aberration may be detected in patients with a previous CML treated with tyrosine kinase inhibitors or, finally, BCR::ABL1 translocation occurs in patients with a history of JAK2-positive MPN. This combination of genomic alterations is potentially confounding with clinical manifestations often misinterpreted either as disease progression or drug resistance, therefore leading to inappropriate patient’s treatment. Our systematic review aims to improve hematologist and pathologist knowledge on this rare subset of patients. Starting from the presentation of two additional cases from our routine daily practice, we focus mainly on clinical, laboratory, and bone marrow histological findings, which may represent useful clues of BCR::ABL1 and JAK2 co-occurrence. The interaction between JAK2 and BCR::ABL1 clones during the disease course as well as therapy and outcome are presented.

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Section: Group 1 (Ph-negative Mpn Preceding Cml): Clinical Symptoms A...mentioning

confidence: 99%

Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination

Zanelli,

Bisagni,

Sanguedolce

et al. 2024

Front. Oncol.

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“…2 The presence of a BCR-ABL1 translocation with a coexisting mutation of CALR or MPL is also exceptionally rare, with only 7 cases reported in the literature. [3][4][5][6][7][8][9] Here, we report the first documented case of a patient with Ph+ chronic myeloid leukemia (CML) harboring both CALR and MPL mutations. Figure 1E).…”

Section: Chronic Myeloid Leukemia Bcr-abl1-positive With Calr and Mpmentioning

confidence: 99%

Chronic myeloid leukemia, BCR‐ABL1‐positive with CALR and MPL mutations

Klairmont

Cheng

Schwartzberg

et al. 2018

Int J Lab Hematology

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Chronic Myeloid Leukemia

Zhou

2020

Practical Lymph Node and Bone Marrow Pathology

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Chronic myelogenous leukemia in patients with MPL or JAK2 mutation‐positive myeloproliferative neoplasm

Cited by 7 publications

References 14 publications

Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination

Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination

Chronic myeloid leukemia, BCR‐ABL1‐positive with CALR and MPL mutations

Chronic Myeloid Leukemia

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