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An approach to human preleukemia using cell culture studies.

Cell culture methods applied to the study of acute leukemia have indicated the presence of many abnormalities. Utilizing this knowledge, we have applied cell culture techniques to the evaluation of a patient population with a recognized risk of developing leukemia. We demonstrate that cultural abnormalities present in some patients with sideroblastic anemia are similar to those seen in acute leukemia, and that these perturbations may be shown before leukemia develops. This study suggests that cell culture abnormalities may reflect mechanisms operative in vivo, and preceding the development of overt leukemia.

Bone Marrow↗

Absence of allelic loss on chromosome 5q by RFLP analysis in preleukemia.

Thirty-eight patients with various forms of myelodysplastic syndrome (MDS) were studied for the loss of restriction fragment length polymorphism (RFLP) heterozygosity on chromosome 5q as inferential support for the presence of a growth regulatory locus in this area of the genome. Conventional chromosomal analysis was performed in addition to RFLP studies of constitutive and granulocyte DNA using five polymorphisms from chromosome 5. Allelic loss in granulocyte DNA was identified in only one patient in whom monosomy 5 had already been defined cytogenetically. These results suggest that DNA sequence loss from chromosome 5q other than that observed cytogenetically is a rare event in MDS. Thus the potential involvement of a growth regulatory gene(s), from this area of the genome, in the leukemogenic process most likely involves a more subtle genetic change.

Alleles↗

Rearrangement of chromosome no. 3 in a case of preleukemia with thrombocytosis.

The clinical and cytogenetic findings of a patient with the preleukemic syndrome and a structural rearrangement involving both chromosomes No. 3 are described. The karyotypic abnormality consisted of an insertion of a part of the long arm of one chromosome No. 3 into the other, i.e., ins(3;3)(q27;q21q27). A prominent feature of the bone marrow was a marked megakaryocytic hyperplasia. The platelet count temporarily exceeded 1000 x 10(9)/liter. The findings of the present case, together with similar observations by others, suggest that the long arm of chromosome No. 3 may contain a region involved in the regulation of megakaryopoiesis.

Bone Marrow Cells↗