1.Leukaemia Research Fund Cytogenetics Group, Cancer Sciences Division, University of Southampton, MP822, Duthie Building, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK
FISH has been instrumental in defining this abnormality and is essential for its accurate detection. Virtually all cases reported to date have been identified using the LSI TEL-AML1 translocation probe. However, any FISH probe directed to RUNX1 could be used. The identification of metaphases with multiple RUNX1 signals on a single chromosome 21 is the most accurate detection method. However, in the absence of metaphases the presence of multiple clustered RUNX1 signals is also reliable.The current published definitions of amplification within the context of this abnormality are as follows: only included cases in which the abnormality had been visualised in metaphases and three or more RUNX1 signals were seen on a single abnormal chromosome 21, while others used the same definition when the abnormality was seen in metaphase. Additionally, they included cases which revealed only interphases with five or more RUNX1 signals.
Christine J. Harrison ; Anthony V Moorman
dup(21q) amplified (RUNX1)
Atlas Genet Cytogenet Oncol Haematol. 2005-09-01
Online version: http://atlasgeneticsoncology.org/haematological/1382/dup(21q)-amplified-(runx1)