Chromosome 7 monosomy and deletions in myeloproliferative diseases

Abstract 

We studied deletion and monosomy of chromosome 7 in 150 patients with myeloproliferative diseases. We found 8/150 patients with monosomy 7 by cytogenetics and 4/150 with deletions of the long arm of chromosome 7 by restriction fragment length polymorphism (RFLP) analysis performed with Southern and polymerase chain reaction. To overcome limitation of RFLP analysis, we restricted loss of heterozygosity study with microsatellites to 45 patients, observing deletion 7q31.1 in 7/45 patients. In all patients with molecular alterations the deletion was observed only in myeloid cells, while the monosomy was detected in both myeloid precursor and lymphocytes. This finding suggests a CD34-totipotent stem cell origin for the monosomy and a colony forming unit – granulocyte, erytrocyte, monocyte, megakaryocytes (CFU–GEMM) stem cell origin for the deletions.

Keywords:  Myeloid leukemia, Myelodysplasia, DNA, Deletion, Chromosome 7, Microsatellite, Cytogenetics

Abbreviations:  LOH, loss of heterozygosity, t-AML, therapy related acute myeloid leukemia, t-MDS, therapy related myelodysplastic syndromes, PCR, polymerase chain reaction, CML, chronic myeloid leukemia, ET, essential thrombocytemia, PV, polycytemia vera, RFLP, restriction fragment length polymorphism, MF, myelofibrosis, TSG, tumor suppressor gene, CFU–GEMM, colony forming unit – granulocyte, erytrocyte, monocyte, megakaryocytes