Der(6)t(1;6)(q21–23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia

Dingli, David, Grand, Francis H., Mahaffey, Victor, Spurbeck, Jack, Ross, Fiona M., Watmore, Ann E., Reilly, John T., Cross, Nicholas C.P., Dewald, Gordon W. and Tefferi, Ayalew (2005) Der(6)t(1;6)(q21–23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia. British Journal of Haematology, 130, (2), 229-232. (doi:10.1111/j.1365-2141.2005.05593.x).


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Chromosome anomalies are detected in approximately half of patients with myelofibrosis with myeloid metaplasia (MMM) although none of the most prevalent lesions are specific to the disease. In a prospective cytogenetic study of 81 patients with MMM, we encountered three with an unbalanced translocation between chromosomes 1 and 6 with specific breakpoints; der(6)t(1;6)(q21-23;p21.3). A subsequent Mayo Clinic cytogenetic database search identified 12 patients with this chromosome anomaly among 17 791 consecutive patients. A similar database search from Royal Hallamshire Hospital in Sheffield, UK revealed two additional patients among 8000 cases. The clinical phenotype and survival for each of these 14 patients was typical of MMM. These findings suggested that der(6)t(1;6)(q21-23;p21.3) is a highly specific cytogenetic anomaly that may harbour gene(s) specifically associated with MMM. In a preliminary fluorescence in situ hybridization study, the breakpoints on chromosome 6 in two additional cases were found to be telomeric to the gene for 51 kDa FK506-binding protein (FKBP51).

Item Type: Article
Digital Object Identifier (DOI): doi:10.1111/j.1365-2141.2005.05593.x
ISSNs: 0007-1048 (print)
Related URLs:
Keywords: myelofibrosis, t(1; 6) translocation, chromosomes
Subjects: R Medicine > RC Internal medicine
Divisions : University Structure - Pre August 2011 > School of Medicine
ePrint ID: 59681
Accepted Date and Publication Date:
July 2005Published
Date Deposited: 05 Sep 2008
Last Modified: 31 Mar 2016 12:41

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