Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate

Lee, Yoo Jin; Moon, Joon Ho; Shin, Ho Cheol; Seo, Jong Won; Han, Sang Hwa; Seo, Sang Kyeong; Sohn, Sang Kyun

doi:10.1007/s12185-013-1326-8

Cited by 14 publications

(12 citation statements)

References 22 publications

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“…This observation suggests that essential clearance of the dominant BCR-ABL1 clone permits the weaker JAK2 driver to exert its effect. Prior reports have noted similar clinical courses(3, 27, 30, 33).…”

Section: Discussionmentioning

confidence: 52%

Myeloproliferative neoplasms with concurrent BCR–ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group

et al. 2018

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Myeloproliferative neoplasms arise from hematopoietic stem cells with somatically altered tyrosine kinase signaling. Classification of myeloproliferative neoplasms is based on hematologic, histopathologic and molecular characteristics including the presence of the BCR-ABL1 and JAK2 V617F. Although thought to be mutually exclusive, a number of cases with co-occurring BCR-ABL1 and JAK2 V617F have been identified. To characterize the clinicopathologic features of myeloproliferative neoplasms with concomitant BCR-ABL1 and JAK2 V617F, and define the frequency of co-occurrence, we conducted a retrospective multi-institutional study. Cases were identified using a search of electronic databases over a decade at six major institutions. Of 1570 patients who were tested for both BCR-ABL1 and JAK2 V617F, six were positive for both. An additional five patients were identified via clinical records providing a total of 11 cases for detailed evaluation. For each case, clinical variables, hematologic and genetic data, and bone marrow histomorphologic features were analyzed. The sequence of identification of the genetic abnormalities varied: five patients were initially diagnosed with a JAK2 V617F+ myeloproliferative neoplasm, one patient initially had BCR-ABL1+ chronic myeloid leukemia, while both alterations were identified simultaneously in five patients. Classification of the BCR-ABL1-negative myeloproliferative neoplasms varied, and in some cases, features only became apparent following tyrosine kinase inhibitor therapy. Seven of the 11 patients showed myelofibrosis, in some cases before identification of the second genetic alteration. Our data, reflecting the largest reported study comprehensively detailing clinicopathologic features and response to therapy, show that the co-occurrence of BCR-ABL1 and JAK2 V617F is rare, with an estimated frequency of 0.4%, and most often reflects two distinct ('composite') myeloproliferative neoplasms. Although uncommon, it is important to be aware of this potentially confounding genetic combination, lest these features be misinterpreted to reflect resistance to therapy or disease progression, considerations that could lead to inappropriate management.

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Section: Discussionmentioning

confidence: 52%

Myeloproliferative neoplasms with concurrent BCR–ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group

et al. 2018

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“…We were unable to retrospectively determine whether the JAK2 V617F mutation was present at diagnosis of CML. Comparison with similar cases in the literature10 22 23 suggests two possible scenarios: either both mutations occur sequentially in the same progenitor cell ( JAK2 followed by BCR-ABL1 ) with disease manifesting as CML,24 or the mutations occur independently in two distinct clones. In either situation, TKI therapy would be expected to suppress growth of BCR-ABL1 + cells with re-emergence of the JAK2+ clone.…”

Section: Discussionmentioning

confidence: 75%

Thrombocytosis and STAT5 activation in chronic myelogenous leukaemia are not associated withJAK2V617F or calreticulin mutations

et al. 2016

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“…Thus, this gene mutation can represent an early event in CML. On the other hand, it has been described the co‐occurrence of both BCR‐ABL and V617F mutations in several cases of CML patients …”

Section: Discussionmentioning

confidence: 99%

“…There are a limited number of studies investigating the ASXL1 mutational status in CML . In addition, it has been described the co‐occurrence of both BCR‐ABL and JAK2V617F mutations in few cases of CML patients . The Janus Kinase 2 ( JAK2 ) is a tyrosine kinase that has an important role in cytokine receptor signaling of the hematopoietic cells.…”

Section: Introductionmentioning

confidence: 99%

ASXL1 and JAK2V617F gene mutation screening in Iranian patients with chronic myeloid leukemia

Valikhani

Poopak

Ferdowsi

et al. 2016

Asia-Pac J Clncl Oncology

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Two CML patients who subsequently developed features of essential thrombocythemia with JAK2-V617F mutation while in complete cytogenetic remission after treatment with imatinib mesylate

Cited by 14 publications

References 22 publications

Myeloproliferative neoplasms with concurrent BCR–ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group

Myeloproliferative neoplasms with concurrent BCR–ABL1 translocation and JAK2 V617F mutation: a multi-institutional study from the bone marrow pathology group

Thrombocytosis and STAT5 activation in chronic myelogenous leukaemia are not associated withJAK2V617F or calreticulin mutations

ASXL1 and JAK2V617F gene mutation screening in Iranian patients with chronic myeloid leukemia

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