Prognostic diversity among cytogenetic abnormalities in myelofibrosis with myeloid metaplasia

BACKGROUND. Approximately 30-50% of patients with myelofibrosis with myeloid metaplasia (MMM) demonstrate detectable cytogenetic abnormalities, the prog- nostic value of which has not been completely defined by previous retrospective studies. The current prospective study addresses this issue in the context of currently accepted independent prognostic variables. METHODS. The current study is a single institution study in which patients with MMM were accrued between January 2000 and August 2001 and followed in a prospective fashion. All study patients underwent bone marrow examination with cytogenetic studies as well as comprehensive clinical and laboratory evaluation at the time of karyotype analysis. RESULTS. Among the study cohort of 81 patients (with a median age of 61 years; 54 males), the cytogenetic findings were normal in 44 patients (54%; Group 1). The remaining 37 patients (46%) demonstrated either interstitial deletions involving the long arm of chromosome 13 or 20 (9 patients; Group 2) or other abnormalities (28 patients; Group 3). All study patients were followed prospectively for a minimum of 40 months (range, 40-55 months). Survival from the time of karyotypic analysis was found to be similar between Groups I and 2 but was significantly worse in Group 3. Furthermore, none of the patients in Group 2 experienced leukemic transformation, whereas five patients each from the other two groups did. Multivariate analysis identified an unfavorable cytogenetic profile (Group 3), >= 1% circulating blasts, a hemoglobin level of < 10 g/dL, and constitutional symptoms as adverse prognostic features for overall survival. CONCLUSIONS. Specific cytogenetic lesions in patients with MMM might carry an independent prognostic effect for both survival and the risk of leukemic transformation. Such information should assist in decision making when considering aggressive treatment approaches.