Table 3. Clinical and Genetic Characteristics of Published Cases Including Initial Molecular Lesion JAK2 and BCR/ABL in Combination With Molecular Change of JAK2, BCR/ABL or JAK2 and BCR/ABL.
Reference | Initial phenotype | Initial molecular lesion | Phenotype change | Molecular change | Observations |
---|---|---|---|---|---|
Bee et al, 2010 [24] | PVa | JAK2 and BCR/ABL | CML | JAK2 present when BCR/ABL is treated, and vice versa. | Two clones with clonal dominance. |
Payande et al, 2011 [25] | ETa | JAK2 and BCR/ABL | No | No | - |
Hummel et al, 2012 [6] | CML | JAK2 and BCR/ABL | PV | High JAK2 allele burden when PV phenotype. | PV phenotype when treated with imatinib. |
Darling et al, 2017 [18] | Neutrophilic leukocytosis, basophilia and thrombocytosis | JAK2 and BCR/ABL | No | - | Treated with TKI. |
Xu et al, 2014 [26] | CML | BCR/ABL and JAK2 | No | - | Two clones? CMR with TKI, persistent JAK2. |
Hassan et al, 2015 [27] | CML/MF | BCR/ABL and JAK2 | No | - | JAK2 tested in deferred in first sample. Poor control of BCR/ABL with TKI. |
Hussein et al, 2008 [17] | CMLb | BCR/ABL and JAK2 | No | - | Concurrent lesions at the beginning. |
Toogeh et al, 2011[28] | PV | JAK2 homozygous BCR/ABL | - | - | - |
Park et al, 2013 [29] | ET | JAK2 and BCR/ABL | None | - | Poor response with hydroxyurea. |
PMF | JAK2 and BCR/ABL | - | - | BCR/ABL controlled with TKI. | |
Qin et al, 2014 [30] | ET | JAK2 and BCR/ABL | - | - | Diagnosis during pregnancy. |
Kramer et al, 2007 [31] | CML | BCR/ABL | MF | JAK2 | JAK2 positive tested in deferred in first sample. |
Bornhauser et al, 2007 [8] | MF | - | - | BCR/ABL JAK2 | BCR/ABL secondary event proved by progenitor colonies analysis. |
Campiotti et al, 2009 [32] | CML | BCR/ABL and JAK2 | - | - | JAK2 and BCR/ABL controlled with TKI. |
Pastore et al, 2013 [33] | CML | BCR/ABL | TE | JAK2 | JAK2 positive tested in deferred in first sample. |
Cambier et al, 2008 [34] | PV | BCR/ABL and JAK2 | - | - | Two clones proved by progenitor colonies analysis. |
CML | |||||
Conchon et al, 2008 [35] | MF | BCR/ABL and JAK2 | - | - | JAK2 positive when BCR/ABL controlled with TKI. |
CML | |||||
Inami et al, 2007 [36] | CMLa | BCR/ABL | PV | JAK2 | JAK2 positive tested in deferred in first sample. |
Gattenlohner et al, 2009 [37] | CML | BCR/ABL | MDS/MPN | JAK2 | JAK2 positive since the beginning. |
aAdditional high WBC/thrombocytosis/erythrocytosis. bBone marrow findings of other MPN. WBC: white blood cell; PV: polycythemia vera; PMF: primary myelofibrosis; ET: essential thrombocytosis; CML: chronic myelogenous leukemia; TKI: tyrosine kinase inhibitor; MPN: myeloproliferative neoplasm; MDS: myelodysplastic syndrome; CMR: Complete molecular response.