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  • Title: [Cytogenetic studies in hematological diseases. Analysis of 185 cases].
    Author: Porto B, Mota A, Coutinho J, Justiça B, Malheiro MI.
    Journal: Sangre (Barc); 1993 Apr; 38(2):103-14. PubMed ID: 8516724.
    Abstract:
    PURPOSE: To analyse the chromosomal abnormalities found at diagnosis in patients with malignant blood diseases. PATIENTS AND METHODS: Between june 1988 and january 1992, cytogenetic studies were performed at the Cytogenetics Laboratory of the Abel Salazar Institute for Biomedical Sciences on 185 patients with malignant blood diseases. Bone-marrow and/or peripheral blood cells were used for such studies, two simultaneous cultures being prepared at 24 and 48 hr, plus another one, stimulated with phytohemagglutinin, at 72 hr. Trypsin G-banding techniques were used for chromosome identification. Chromosomes were classified in accordance with the international system, and a clone was judged abnormal whenever two or more metaphases showed identical structural abnormalities or extra chromosome(s) and three or more metaphases lacked the same chromosome(s). RESULTS: Evaluable mitoses were found in 152 of the 185 cytogenetic studies performed (82.2%), pertaining to chronic myelogenous leukaemia (39/42), acute nonlymphoblastic leukaemia (40/43), myelodysplastic syndromes (10/17), acute lymphoblastic leukaemia (30/36), and chronic lymphoproliferative disorders (10/14). Chromosomal alterations, previously described in each diagnostic variety, were found in 69% of the cases with abnormal karyotype. The remaining patients (31%) had chromosomal abnormalities not reported consistently. CONCLUSIONS: The karyotype should be studied regularly in haematologic disorders since, although lacking precise prognostic implications, it may help gain information with regard to the genetic alterations in different blood diseases.
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