title: Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia.
abstract: The prognostic significance of bone marrow cytogenetic lesions in myelofibrosis with myeloid metaplasia (MMM) was investigated in a retrospective series of 165 patients. An abnormal karyotype was demonstrated in 57% of patients. At diagnosis (n = 92), 48% of the patients had detectable cytogenetic abnormalities, and clonal evolution was frequently demonstrated in sequential studies. More than 90% of the anomalies were represented by 20q-, 13q-, +8, +9, 12p-, and abnormalities of chromosomes 1 and 7. Of these, 20q-, 13q- and +8 were the most frequent sole abnormalities, each occurring in 15-25% of the abnormal cases. Trisomy 9 and abnormalities of chromosomes 1 and 7 were equally prevalent but were usually associated with additional cytogenetic lesions. Chromosome 5 abnormalities were infrequent but were over-represented in the group of patients exposed to genotoxic therapy. In a multivariate analysis that incorporated other clinical and laboratory variables, the presence of an abnormal karyotype did not carry an adverse prognosis. Instead, +8, 12p-, advanced age and anaemia were independent prognostic determinants of inferior survival. In particular, survival was not adversely affected by the presence of either 20q- or 13q-.
authors.affiliation: Division of Hematology and Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA. tefferi.ayalew@mayo.edu
authors.forename: A
authors.initials: A
authors.lastname: Tefferi
authors.forename: R A
authors.initials: RA
authors.lastname: Mesa
authors.forename: G
authors.initials: G
authors.lastname: Schroeder
authors.forename: C A
authors.initials: CA
authors.lastname: Hanson
authors.forename: C Y
authors.initials: CY
authors.lastname: Li
authors.forename: G W
authors.initials: GW
authors.lastname: Dewald
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000740:Anemia / Q000150:complications / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000401:mortality; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000150:complications* / Q000235:genetics* / Q000401:mortality; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis