The genetics of acute myeloid leukaemia
Research type
Research Study
Full title
Paired exome sequencing of familial acute myeloid leukaemia
IRAS ID
125623
Contact name
Dominic J Culligan
Contact email
Sponsor organisation
University of Aberdeen & NHS Grampian
Research summary
The study team had identified two related individuals who were diagnosed and treated for acute myeloid leukaemia, both of whom carried an identical pattern of chromosomal abnormalities in their leukaemia cells. This combination occurred much more often than would be expected by chance and suggested it might be influenced by a specific genetic abnormality. Individuals with leukaemia who carried this chromosomal pattern typically had a dreadful response to intensive chemotherapy, with only a small proportion achieving disease remission.
The study team believed that further study of these two related individuals offered a unique opportunity to better understand the origins of leukaemia. The study team proposed to utilise next generation genetic sequencing technology to identify the genetic factors responsible in the two related individuals. Better understanding of this subtype of Acute Myeloid Leukaemia (AML) might lead to new therapeutic avenues, which would greatly benefit a group of patients who currently exhibited a dreadful outcome with conventional treatment.
REC name
North of Scotland Research Ethics Committee 2
REC reference
14/NS/0004
Date of REC Opinion
13 Jan 2014
REC opinion
Favourable Opinion