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Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
by
Reiter, Andreas
, Hofmann, Wolf-Karsten
, Fabarius, Alice
, Cross, Nicholas C. P.
, Hagen, Volker
, Metzgeroth, Georgia
, Schwaab, Juliana
, Dangelo, Vito
, Hockenberger, Tabea
, Saussele, Susanne
, Kreil, Sebastian
, Naumann, Nicole
, Dengler, Jolanta
, Bresser, Jakob
, Lübke, Johannes
in
692/308/2056
/ 692/699/1541/1990/2331
/ Adult
/ Aged
/ Dasatinib - therapeutic use
/ Diagnosis
/ Dosage
/ Female
/ Fusion Proteins, bcr-abl - genetics
/ Granulocytes
/ Humanities and Social Sciences
/ Humans
/ Imatinib
/ Imatinib Mesylate - therapeutic use
/ Janus kinase 2
/ Janus Kinase 2 - genetics
/ Kinases
/ Laboratories
/ Leukemia
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
/ Leukocytes (granulocytic)
/ Macrophages
/ Male
/ Middle Aged
/ Morphology
/ multidisciplinary
/ Mutation
/ Myeloproliferative Disorders - drug therapy
/ Myeloproliferative Disorders - genetics
/ Nitriles
/ Patients
/ Physical characteristics
/ Protein Kinase Inhibitors - therapeutic use
/ Proto-Oncogene Proteins c-abl - genetics
/ Pyrazoles - therapeutic use
/ Pyrimidines - therapeutic use
/ Remission
/ Science
/ Science (multidisciplinary)
/ Thermal cycling
/ Tumors
2025
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Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
by
Reiter, Andreas
, Hofmann, Wolf-Karsten
, Fabarius, Alice
, Cross, Nicholas C. P.
, Hagen, Volker
, Metzgeroth, Georgia
, Schwaab, Juliana
, Dangelo, Vito
, Hockenberger, Tabea
, Saussele, Susanne
, Kreil, Sebastian
, Naumann, Nicole
, Dengler, Jolanta
, Bresser, Jakob
, Lübke, Johannes
in
692/308/2056
/ 692/699/1541/1990/2331
/ Adult
/ Aged
/ Dasatinib - therapeutic use
/ Diagnosis
/ Dosage
/ Female
/ Fusion Proteins, bcr-abl - genetics
/ Granulocytes
/ Humanities and Social Sciences
/ Humans
/ Imatinib
/ Imatinib Mesylate - therapeutic use
/ Janus kinase 2
/ Janus Kinase 2 - genetics
/ Kinases
/ Laboratories
/ Leukemia
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
/ Leukocytes (granulocytic)
/ Macrophages
/ Male
/ Middle Aged
/ Morphology
/ multidisciplinary
/ Mutation
/ Myeloproliferative Disorders - drug therapy
/ Myeloproliferative Disorders - genetics
/ Nitriles
/ Patients
/ Physical characteristics
/ Protein Kinase Inhibitors - therapeutic use
/ Proto-Oncogene Proteins c-abl - genetics
/ Pyrazoles - therapeutic use
/ Pyrimidines - therapeutic use
/ Remission
/ Science
/ Science (multidisciplinary)
/ Thermal cycling
/ Tumors
2025
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Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
by
Reiter, Andreas
, Hofmann, Wolf-Karsten
, Fabarius, Alice
, Cross, Nicholas C. P.
, Hagen, Volker
, Metzgeroth, Georgia
, Schwaab, Juliana
, Dangelo, Vito
, Hockenberger, Tabea
, Saussele, Susanne
, Kreil, Sebastian
, Naumann, Nicole
, Dengler, Jolanta
, Bresser, Jakob
, Lübke, Johannes
in
692/308/2056
/ 692/699/1541/1990/2331
/ Adult
/ Aged
/ Dasatinib - therapeutic use
/ Diagnosis
/ Dosage
/ Female
/ Fusion Proteins, bcr-abl - genetics
/ Granulocytes
/ Humanities and Social Sciences
/ Humans
/ Imatinib
/ Imatinib Mesylate - therapeutic use
/ Janus kinase 2
/ Janus Kinase 2 - genetics
/ Kinases
/ Laboratories
/ Leukemia
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
/ Leukocytes (granulocytic)
/ Macrophages
/ Male
/ Middle Aged
/ Morphology
/ multidisciplinary
/ Mutation
/ Myeloproliferative Disorders - drug therapy
/ Myeloproliferative Disorders - genetics
/ Nitriles
/ Patients
/ Physical characteristics
/ Protein Kinase Inhibitors - therapeutic use
/ Proto-Oncogene Proteins c-abl - genetics
/ Pyrazoles - therapeutic use
/ Pyrimidines - therapeutic use
/ Remission
/ Science
/ Science (multidisciplinary)
/ Thermal cycling
/ Tumors
2025
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Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
Journal Article
Clinical, morphological and genetic characteristics of patients with concurrent presence of JAK2 V617F and BCR::ABL1
2025
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Overview
Diagnosis and treatment of chronic myeloid neoplasms with two concurrently present driver mutations is challenging. We report on 10
JAK2
V617F
pos
/
BCR::ABL1
pos
patients in whom both mutations were identified simultaneously in 5/10 (50%) patients or in whom
BCR::ABL1
appeared a median of 14 years after the primary diagnosis of
JAK2
V617F
pos
myeloproliferative neoplasia (MPN) in the remaining 5 patients. Granulocyte-macrophage colony-forming unit (CFU-GM) analysis demonstrated subsequent acquisition of
BCR::ABL1
in a pre-existing
JAK2
V617F
pos
clone in 8/9 (89%) of evaluable patients. Despite the presence of
JAK2
V617F in all patients, atypical
BCR::ABL1
transcripts (e1a2/e19a2) in 3/9 (33%) patients and additional somatic mutations in 5/9 (56%) patients, molecular remission of
BCR::ABL1
was achieved with different ABL1 TKIs (imatinib,
n
= 2, dasatinib,
n
= 2, nilotinib,
n
= 3) in 7/9 (78%) patients. During a total of 217 months of treatment, concomitant treatment with ABL1 TKIs and ruxolitinib did not affect dosing, efficacy or side effects. We conclude that (i) a second driver mutation might occur in chronic phase MPNs, (ii) clonality analyses largely support a common disease origin, and (iii) the dose, efficacy and safety of ABL1 inhibitors and ruxolitinib are not mutually affected by concurrent treatment.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ Adult
/ Aged
/ Dosage
/ Female
/ Fusion Proteins, bcr-abl - genetics
/ Humanities and Social Sciences
/ Humans
/ Imatinib
/ Imatinib Mesylate - therapeutic use
/ Kinases
/ Leukemia
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - drug therapy
/ Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
/ Male
/ Mutation
/ Myeloproliferative Disorders - drug therapy
/ Myeloproliferative Disorders - genetics
/ Nitriles
/ Patients
/ Protein Kinase Inhibitors - therapeutic use
/ Proto-Oncogene Proteins c-abl - genetics
/ Pyrimidines - therapeutic use
/ Science
/ Tumors
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