1.Medical Oncology, Institute of Cancer, 3rd Floor, Charterhouse Square, London, EC1M 6BQ, UK
Isolated trisomy 2 has been reported in 4 cases of MDS and in two patients with MDS transforming to AML. These cases account for the following stages of MDS - : refractory anaemia (RA), RA with excess blasts (RAEB), RA with excess blasts in transformation (RAEB-t) and chronic myelomonocytic leukaemia (CMML).
It has been suggested that the presence of trisomy 2 in MDS is an early genetic event that, in combination with other chromosomal changes, may give rise to AML. All of the reported cases appear to be mosaic in nature, and thus its true incidence may be higher. Further case reports are needed to ascertain the effect of trisomy 2 at clinical presentation in both MDS and AML, its association with progression of MDS to AML and prognostic significance.
It has also been suggested that the presence of trisomy 2 may be age-related. Trisomy 2 has been observed in in vitro senescent lymphocytes in elderly patients ranging in age from 70-100 years. All the published cases of trisomy 2 as a sole abnormality in MDS fall within this age range and thus the possibility that the presence of trisomy 2 may be an age-related phenomenon cannot be excluded.
+2 or trisomy 2
Atlas Genet Cytogenet Oncol Haematol. 2006-04-01
Online version: http://atlasgeneticsoncology.org/haematological/1429/+2-or-trisomy-2