alexa The 5q- syndrome: a single-institution study of 43 consecutive patients.
Psychiatry

Psychiatry

Journal of Addiction Research & Therapy

Author(s): Mathew P, Tefferi A, Dewald GW, Goldberg SL, Su J,

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Abstract A favorable prognosis and a low rate of leukemic transformation has been attributed to the 5q- syndrome, a myelodysplastic syndrome (MDS) characterized by macrocytic anemia, hypolobulated micromegakaryocytic hyperplasia, and an interstitial deletion of chromosome 5. We examined the characteristics and outcome of 43 consecutive patients in our institution strictly defined by morphologic criteria and a solitary 5q- cytogenetic defect. The median age at diagnosis was 68 years, with a clear female predominance (7:3). Eighty percent of the patients were red blood cell transfusion-dependent at diagnosis and all untransfused patients had macrocytic indexes. In contrast, significant neutropenia or thrombocytopenia was rare. The French-American-British (FAB) class distributions were RA (72\%), RARS (7\%), RAEB (16\%), and RAEB-IT (5\%). At a median follow-up of 31 months, 56\% of the patients survive, with a projected median survival of 63 months. The incidence of acute leukemia was 16\% and was uniformly fatal. Clinical hemosiderosis occurred in 28\% of the patients, resulting in two deaths. Neither survival nor the risk of leukemic transformation was predictable from initial clinical parameters, including FAB classification, Bournemouth score, and degree of aneuploidy. The lack of significant neutropenia and thrombocytopenia seemed to account for a very low incidence of infection and bleeding resulting in a prognosis equal or superior to historical patients with MDS. Therapeutic endeavors, including the use of corticosteroids, androgens, cis-retinoic acid, pyridoxine, and danazol, were largely unsuccessful.
This article was published in Blood and referenced in Journal of Addiction Research & Therapy

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