A Tandem Triplication Of Chromosome 1q As Second Karyotypic Aberration In A Patient With Acute Myelogenous Leukemia

Triplication of the long arm of chromosome 1 (trp(1q)) is a very rare karyotypic abnormality in hematologic diseases. We report a case of acute myelogenous leukemia whose karyotype carried trp(1q) that was proved to be addition to preceding trisomy 8. A 62 year-old woman who visited our department because of general fatigue presented pancytopenia. Bone marrow examination revealed hypocellularity containing 22.4% of blastic cells. Acute myeloid leukemia with maturation was diagnosed. Karyotypic analysis of her marrow leukemic cells showed 47,XX,trp(1)(q21;q32),+8 in 19 of the 20 metaphases and 47,XX,+8 in the remaining one. Remission induction failure and combination chemotherapy had been repeated for the disease control. She died of interstitial pneumonia 3 years after the initial presentation. To date, trp(1q) has been shown to be involved in the pathogenesis of leukemia, myelodysplastic syndrome, lymphoma, and so on. However, the frequency is too low to elucidate precise role. Thus, world-wide accumulation of clinical data of trp(1q) is required.