BCR-ABL1-positive chronic myeloid leukemia with erythrocytosis presenting as polycythemia vera: a case report

Journal of Medical Case Reports

Daniel C Betticher¹  Paul Pugin¹  Emmanuel Levrat¹  Mihaela I Precup Cornea¹ 

[1] Hôpital Cantonal Fribourg, Chemin des Pensionnats 2, 1708 Fribourg, Switzerland

关键词: JAK2 V617F;    BCR-ABL1;    Chronic myeloid leukemia;    Polycythemia vera;    Erythrocytosis;   

Others  :  1211773
DOI  :  10.1186/1752-1947-9-30

 received in 2014-06-19, accepted in 2014-12-16,  发布年份 2015

【 摘 要 】

Introduction

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. 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 presentation

A 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.

Conclusions

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. Her impressive response to imatinib therapy underscores the importance of not missing this diagnosis.

【 授权许可】

   
2015 Cornea et al.; licensee BioMed Central.

【 图 表 】

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