title: Der(6)t(1;6)(q21-23;p21.3): a specific cytogenetic abnormality in myelofibrosis with myeloid metaplasia.
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).
authors: Division of Hematology and Department of Internal Medicine, Mayo Clinic Rochester, MN, USA.
authors: David
authors: D
authors: Dingli
authors: Francis H
authors: FH
authors: Grand
authors: Victor
authors: V
authors: Mahaffey
authors: Jack
authors: J
authors: Spurbeck
authors: Fiona M
authors: FM
authors: Ross
authors: Ann E
authors: AE
authors: Watmore
authors: John T
authors: JT
authors: Reilly
authors: Nicholas C P
authors: NC
authors: Cross
authors: Gordon W
authors: GW
authors: Dewald
authors: Ayalew
authors: A
authors: Tefferi
mesh_terms: D000328:Adult; D000368:Aged; D019457:Chromosome Breakage; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000235:genetics*; D011446:Prospective Studies; D014178:Translocation, Genetic