Constitutional and acquired trisomy 8

Trisomy 8 is seen in a range of disorders both constitutional and acquired. The full constitutional condition presents with physical stigmata, skeletal abnormalities and a mild to moderately retarded IQ. Trisomy 8 is frequently seen as a mosaic in the blood or in the skin or both. Trisomy 8 as an acquired condition is found in haematological disorders, notably in myelodysplasia (MDS) and acute myeloid leukaemia (AML), and is restricted to the malignant cells. These arise in the bone marrow and may also be found in the peripheral blood. Reported in this issue (Zollino et al. (1995) Leukemia Res. 19(10), 733) is a case of a patient with constitutional trisomy 8 mosaicism who developed myelodysplasia with trisomy 8 in 95–100% of bone marrow cells. Here we consider the implications of this case to the diagnosis of both malignant and constitutional conditions.