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

David Dingli, Francis H. Grand, Victor Mahaffey, Jack Spurbeck, Fiona M. Ross, Ann E. Watmore, John T. Reilly, Nicholas C.P. Cross, Gordon W. Dewald, Ayalew Tefferi

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)229-232
Number of pages4
JournalBritish journal of haematology
Issue number2
StatePublished - Jul 2005


  • Chromosomes
  • Myelofibrosis
  • t(1; 6) translocation

ASJC Scopus subject areas

  • Hematology


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