Cytogenetic and clinical characteristics in 31 cases of blood diseases with aberrations at short arm of chromosome 12

To investigate the cytogenetic and clinical characteristics in patients with abnormalities at the short arm of chromosome 12, chromosome specimens were prepared by 24-hour culture of bone marrow cells and undergone karyotype analysis by G-banding technique. The results showed that aberration at the short arm of chromosome 12 were detected in 16 cases with 12p balanced translocation, in 10 cases with 12p deletion, 6 cases with 12p addition, and in 1 case with inversion 12. By complex karyotype classification, 12p translocation included 6 simple aberrations, 6 complex aberrations, and 4 highly complex aberrations; while 12p deletion were mainly composed of highly complexity of aberration. Patients consisted of acute leukemia, myelodysplastic syndrome, chronic myelogenous leukemia and so on. Clinical follow-up data were available in 14 patients, in which 8 cases of acute leukemia were treated with conventional chemotherapy only. Three of them attained complete remission, and the median survival time in 8 patients was 5.5 months. In conclusion, the aberrations at short arm of chromosome 12 were involved in a broad spectrum of haematological malignancies, and the karyotypes showed most complexity of aberration with low remission rate and short survival in clinic.