Prevalence, breakpoint distribution, and clinical correlates of t(5;12).
Among 56,709 cytogenetic studies performed during a 15-year period at the Mayo Clinic, 25 cases of t(5;12) were identified. Among 11 patients with available clinical information, 4 had myelodysplastic syndrome, 2 had acute myelocytic leukemia, 2 had myelofibrosis with myeloid metaplasia (MMM), 2 had atypical chronic myelocytic disorder (ACMD), and 1 had chronic myelomonocytic leukemia (CMMoL). The 5q arm was involved in all patients and the 12p arm in only two patients [ACMD,t(5;12)(q33;p13) and MMM,t(5;12)(q11.2;p11.2)], both of whom had eosinophilia and monocytosis. These two features were present in only two other patients [CMMoL,t(5;12)(q35;q24.1) and ACMD,t(5;12)(q31;q24.1)]. The t(5;12) is a rare, myelocytic-exclusive cytogenetic abnormality with a breakpoint-specific association with eosinophilia or monocytosis.
Greipp
Patricia T
PT
Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Dewald
Gordon W
GW
Tefferi
Ayalew
A
D000753:Anemia, Refractory / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007938:Leukemia / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000235:genetics; D055728:Primary Myelofibrosis / Q000235:genetics; D012189:Retrospective Studies; D014178:Translocation, Genetic / Q000235:genetics*