ABSTRACT
Background & objectives: Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported mostly from the West and only a few are available from Asian countries. We report herein cytogenetic studies on 40 Indian patients with primary MDS to find out the occurrence and type of chromosome abnormalities and recurring defects. Methods: Cytogenetic analysis was done using GTG banding and karyotyped according to the International System for Human Cytogenetic Nomenclature (ISCN). Results: Of the 40 patients, 19 patients (47.5%) showed clonal karyotypic abnormalities with distribution as follows: 3 of 15 (20%) of refractory anaemia (RA), 4 of 7 (57%) of refractory anaemia with excess blasts-1 (RAEB-1), 4 of 6 (67%) of refractory anaemia with excess blasts 2 (RAEB-2), 2 of 3 (67%) of refractory anaemia with ring sideroblasts (RARS), 2 of 4 (50%) of refractory cytopenia with multilineage dysplasia (RCMD), none (0%) RCMD-ringed sideroblasts (RCMD-RS) and 4 patients with 5q syndrome. The frequent abnormalities observed in our study were -7, 5q-and trisomy 8. Interpretation & conclusions: Two rare chromosomal abnormalities (6q-, 3q-) were found with unknown prognostic significance. Hence, cytogenetic analysis may be incorporated in the routine diagnosis of MDS since there are racial differences in clinical pictures and the molecular events.
Subject(s)
Adolescent , Adult , Aged , Anemia, Refractory/diagnosis , Anemia, Refractory/genetics , Anemia, Refractory, with Excess of Blasts/diagnosis , Anemia, Refractory, with Excess of Blasts/genetics , Chromosome Aberrations , Chromosomes, Human, Pair 3/genetics , Chromosomes, Human, Pair 6/genetics , Chromosomes, Human, Pair 8/genetics , Cytogenetic Analysis , Female , Humans , India , Male , Middle Aged , Myelodysplastic Syndromes/diagnosis , Myelodysplastic Syndromes/genetics , Trisomy/diagnosis , Trisomy/genetics , Young AdultSubject(s)
Humans , Burkitt Lymphoma/diagnosis , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Lymphoma/diagnosis , Neural Tube Defects/diagnosis , Paraproteinemias/diagnosis , Adenoma/diagnosis , Anemia, Refractory, with Excess of Blasts/diagnosis , Blood Platelets/pathology , Erythrocytes, Abnormal/pathology , Myelodysplastic Syndromes/diagnosis , Splenomegaly/diagnosisABSTRACT
Myelodysplasia, characterized by varied reductions of peripheral blood elements with normal or hypercellular bone marrow, is reltively frequent among older patients and may evolve to acute leukemia. We reviewed findings in 35 patients whon, according to the FAB classification were distributed as follows: simple refractory anemia (RA) 34%, sideroblastic refractory anemia (SRA) 14%, refractory anemia with excess blast forms (RAEB) 31%, chromic myelomonocytic leukemia (CMML) 12% and refractory anemia eith excess blast forms in transformation (RAEBT 9%). Cytogenetic studies performed in 16 patients were abnormal in 5(31%), al among patients with poor prognosis forms of the disorder. All patients had anemia; thrombopenia and neutropenia were more frequent in subtypes RAEB, CMML and RAEBT). Mean survival rate was 30 months, significantly greater in RA and SRA comapred to the other groups. Infections and development of acute leukemia were the causes of death