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

Der(6)t(1;6)(q21–23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia
Der(6)t(1;6)(q21–23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia
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).
myelofibrosis, t(1, 6) translocation, chromosomes
0007-1048
229-232
Dingli, David
1b3a8deb-6cda-4c54-be40-e9481e84eaef
Grand, Francis H.
89bd846f-638a-4bda-b8a9-8a1989021b31
Mahaffey, Victor
3ce86589-165e-4017-8cbe-e5fcf9eb7ead
Spurbeck, Jack
cd36e40c-194f-4a42-8f2f-52a594a4e092
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Watmore, Ann E.
21ae6254-2366-43e0-9658-ad824d555582
Reilly, John T.
41a44886-ea84-4ade-92e3-abd73345160a
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Dewald, Gordon W.
0d096653-a2d5-4357-bc59-f5e110ba00e5
Tefferi, Ayalew
772fe8d4-f061-4e7c-af13-91959ea634e5
Dingli, David
1b3a8deb-6cda-4c54-be40-e9481e84eaef
Grand, Francis H.
89bd846f-638a-4bda-b8a9-8a1989021b31
Mahaffey, Victor
3ce86589-165e-4017-8cbe-e5fcf9eb7ead
Spurbeck, Jack
cd36e40c-194f-4a42-8f2f-52a594a4e092
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Watmore, Ann E.
21ae6254-2366-43e0-9658-ad824d555582
Reilly, John T.
41a44886-ea84-4ade-92e3-abd73345160a
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Dewald, Gordon W.
0d096653-a2d5-4357-bc59-f5e110ba00e5
Tefferi, Ayalew
772fe8d4-f061-4e7c-af13-91959ea634e5

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).

Record type: Article

Abstract

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).

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More information

Published date: July 2005
Keywords: myelofibrosis, t(1, 6) translocation, chromosomes

Identifiers

Local EPrints ID: 24685
URI: https://eprints.soton.ac.uk/id/eprint/24685
ISSN: 0007-1048
PURE UUID: 1b7a2aa5-3bdc-410a-8fe6-75164b2e853e
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 03 Apr 2006
Last modified: 06 Jun 2018 12:49

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Contributors

Author: David Dingli
Author: Francis H. Grand
Author: Victor Mahaffey
Author: Jack Spurbeck
Author: Fiona M. Ross
Author: Ann E. Watmore
Author: John T. Reilly
Author: Gordon W. Dewald
Author: Ayalew Tefferi

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