Unusual chromosome aberration, t(13;14)(q32;q32.3), in a case of essential thrombocythemia with extreme thrombocytosis

Molecular Defects in Chronic Myeloproliferative Disorders

“…Although the disease involves mutipotent stem cells, the major abnormalities in this disease involve the path- way responsible for the proliferation and differentiation of megakaryocytes. Cytogenetic abnormalities are rare in ET, though the presence of ϩ8, inv3, t(13;14), t(2;3), 13q deletions, and 11q21 deletions are reported (Table 1) (63)(64)(65)(66)(67). The recent cloning of the c-mpl oncogene, which is a tyrosine kinase receptor expressed mainly in megakaryocytes and considered a receptor for thrombopoietin (TPO), has made it possible to investigate the role of the TPO/ receptor system in ET disease (68)(69)(70).…”