OUP user menu

Chronic Myeloproliferative Diseases With the t(5;12)(q33;p13)
Clonal Evolution Is Associated With Blast Crisis

Xin Han MD, L. Jeffrey Medeiros MD, Lynne V. Abruzzo MD, PhD, Dan Jones MD, PhD, Pei Lin MD
DOI: http://dx.doi.org/10.1309/Y3Y5G01443AD5L48 49-56 First published online: 1 January 2006


Chronic myeloproliferative diseases (CMPDs) associated with t(5;12)(q33;p13) are reported to be responsive to imatinib mesylate. We studied 5 cases of CMPD with isolated t(5;12) treated at our hospital between January 1993 and October 2004. All were men with a median age of 55 years (range, 18–68 years). In the peripheral blood, each had marked leukocytosis, with variable eosinophilia (n = 4), monocytosis (n = 3), or basophilia (n = 2). Bone marrow specimens were hypercellular (70%–100%) with marked myeloid hyperplasia in each patient, but only 1 patient had eosinophilia, monocytosis, and basophilia. Follow-up ranged from 23 to 182 months (median, 48 months). Four died 23 to 182 months after initial diagnosis, 3 of blast crisis and 1 of cardiac complications of severe eosinophilia. Additional cytogenetic aberrations were identified at the time of blast crisis. Of 3 patients treated with imatinib, 2 responded, but only 1 had a sustained response. CMPD with t(5;12) commonly transforms to blast phase, and transformation is associated with cytogenetic evidence of clonal evolution.

Key Words:
  • Clonal evolution
  • Chronic myeloproliferative diseases
  • t(5;12)
  • Blast crisis