Abstract

IntroductionThe World Health Organization classification of chronic myeloproliferative disease encompasses eight entities of bone marrow neoplasms, among them Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia and polycythemia vera. Polycythemia vera requires, in the majority of cases (95%), the negativity of Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 rearrangement and the presence of the Janus kinase 2 mutation. We report a case of erythrocytosis as the primary manifestation of a chronic myeloid leukemia, with the presence of the Philadelphia chromosome and the Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 fusion gene, and in the absence of any Janus kinase 2 mutation.Case presentationA 68-year-old Caucasian woman, with a history of cigarette consumption and obstructive sleep apnoea syndrome (undergoing continuous positive airway pressure treatment) had presented to our institution with fatigue and a hemoglobin level of 18.6g/L, with slight leukocytosis at 16G/L, and no other anomalies on her complete blood cell count. Examination of her arterial blood gases found only a slight hypoxemia; erythropoietin and ferritin levels were very low and could not explain a secondary erythrocytosis.Further analyses revealed the absence of any Janus kinase 2 mutation, thus excluding polycythemia vera. Taken together with a high vitamin B12 level, we conducted a Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 gene analysis and bone marrow cytogenetic analysis, both of which returned positive, leading to the diagnosis of chronic myeloid leukemia.ConclusionsTo date, this case is the first description of a Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia, presenting with erythrocytosis as the initial manifestation, and mimicking a Janus kinase 2 V617F-negative polycythemia vera. Her impressive response to imatinib therapy underscores the importance of not missing this diagnosis.

Highlights

  • The World Health Organization classification of chronic myeloproliferative disease encompasses eight entities of bone marrow neoplasms, among them Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia and polycythemia vera

  • To date, this case is the first description of a Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia, presenting with erythrocytosis as the initial manifestation, and mimicking a Janus kinase 2 V617F-negative polycythemia vera

  • Neutrophilic leukocytosis is the initial major finding of chronic myeloid leukemia (CML), which is defined by the World Health Organization as a myeloproliferative neoplasms (MPN) that originates in an abnormal pluripotent bone marrow stem cell, with the BCR-ABL1 fusion gene found in all myeloid lineages, as well as in some lymphoid and endothelial cells [2,3]

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Summary

Conclusions

To the best of our knowledge, this case is the first description of a CML with erythrocytosis as the initial manifestation, mimicking a JAK2 V617F-negative polycythemia vera. In such cases we propose to always test for the JAK2 V617F mutation or exon 12 mutations, and for the BCR-ABL1 fusion transcript and to perform bone marrow cytogenetic analysis. Doi:10.1186/1752-1947-9-30 Cite this article as: Cornea et al.: BCR-ABL1-positive chronic myeloid leukemia with erythrocytosis presenting as polycythemia vera: a case report. EL, PP, and DB participated in the redaction of the manuscript. All authors read and approved the final manuscript

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