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Myelofibrosis with a novel translocation, t(1;3)(q31;q23), and response to imatinib mesylate

Leukemia volume 21, pages 577–578 (2007)Cite this article

Imatinib mesylate is a tyrosine kinase inhibitor with preferential activity toward the bcr-abl fusion protein of chronic myelogenous leukemia (CML).1 Imatinib mesylate is also active against a limited number of other tyrosine kinases, including c-kit, PDGFRα and PDGFRβ.2 Significant clinical activity has been demonstrated in diseases in which these tyrosine kinases play a major role, including a variety of myeloproliferative disorders such as the hypereosinophilic syndromes.3 Currently, we report on a patient with an atypical myeloproliferative disorder and a novel balanced translocation who had a dramatic clinical response to imatinib mesylate. The specific target in this patient is unknown.

The patient is a 63-year-old male who presented in May 2004 with bone pain, early satiety and massive splenomegaly. The white blood count (WBC) was 29 000/mm3, the hemoglobin (HGB) was 11.3 gm/dl and the platelet count was 1 800 000/mm3. An initial bone marrow aspirate was dry and the biopsy was insufficient. The patient was placed on hydroxyurea, however, his platelet count continued to increase and the patient was referred to us for evaluation. In June 2004, the spleen was 19 cm below the left costal margin. The WBC was 16 700/mm3, with 52% neutrophils, 5% bands, 6% metamyelocytes, 2% myelocytes, 3% blasts, 9% monocytes, 14% lymphocytes, 4% eosinophils, 5% basophils and two nucleated red blood cells. The HGB was 10.4 g/dl and the platelet count was 1 627 000/mm3. Bone marrow aspiration was aspiculate with numerous platelet clumps. The myeloid series was slightly left-shifted (7% blasts) but with normal morphology and full maturation. The M:E ratio was 4.9:1. Biopsy showed the bony trabeculae were osteosclerotic, and the matrix of the marrow was hypocellular with loose, pseudomyxoid fibrosis and markedly dilated sinusoids. The megakaryocytes were increased in number and demonstrated cytologic atypia. There was a diffuse mild increase in reticulin fibers. Flow cytometric analysis demonstrated 5% blasts with the following phenotype: CD4, CD13, CD33, CD34, CD117 and HLA-DR. The interpretation was chronic myeloproliferative disorder, best classified as idiopathic myelofibrosis at the early fibrotic stage. Molecular (reverse transcriptase-polymerase chain reaction) and fluorescent in situ hybridization tests for bcr-abl were negative. Cytogenetics demonstrated 46,XY,t(1;3)(q31;q23) in 20 of 20 metaphases.

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  1. Department of Medicine, New York Medical College, Valhalla, New York, USA

    K Yalamanchili, D Liu & K Seiter

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Yalamanchili, K., Liu, D. & Seiter, K. Myelofibrosis with a novel translocation, t(1;3)(q31;q23), and response to imatinib mesylate. Leukemia 21, 577–578 (2007). https://doi.org/10.1038/sj.leu.2404552

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