SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A translocation t(1;7) interpreted as t(1;7)(p11;p11) was first reported by Scheres et al. in eight patients with various hematologic disorders. The karyotype of the abnormal cells was trisomic for 1q and monosomic for 7q. Those investigators reported having found four other cases in the literature. We report herein studies of two patients with the same t(1;7).
A case of myelodysplastic syndrome in a 68-year-old male in whose marrow cells two translocations were established, i.e., t(4;11)(q13;q23) and t(11;17)(p?:q11), as well as other karyotypic changes (-6,-18,15p+), is described. The relation and identity of the bands involved in the translocations affecting chromosomes #11 and #17 in leukemias in which these chromosomes are specifically affected, i.e., t(4;11) in acute myelomonocytic leukemia and t(15;17) in acute promyelocytic leukemia, are discussed in relation to the case described.
The frequency and distribution of sister chromatid exchange (SCE) was determined in bone marrow and peripheral lymphocytes of patients with preleukemic myelodysplastic syndromes. Patients with refractory anemia (RA), RA with excess of blasts (REAB), RA with ring sideroblasts, and RA in transformation presented a 2-3-fold increase in SCE frequency in the bone marrow cells. In contrast, lymphocytes from these patients showed only a marginal increase in SCE. Analysis of interchromosomal distribution of SCE indicated a preferential involvement of chromosomes in group C in patients with RA with excess of blasts. Furthermore, the SCE in patients was not found to be influenced by the karyotype status.
A study of the heteromorphism of chromosomes #1, #9, and #16 was performed in the cells of 55 normal subjects and in those of 40 preleukemic patients including those with refractory anemia (RA) and sideroblastic anemia (SA), classified on the basis of the FAB nomenclature. Heteromorphism was present in 85% of the preleukemic patients, compared with 44% in normal controls (p less than 0.01). The patient population presented an increased incidence of C-band size variants in chromosome #1 (1qh+ and 1qh-), while chromosomes #9 and #16 showed no difference, compared with the findings in the control group.
The same translocation, t(1;3)(p36;q21), was observed in three patients with a preleukemic syndrome presenting as a myelodysplastic disorder. It was the only chromosomal abnormality in two patients; and the third patient had 12p- and 15q- as additional abnormalities. The three cases evolved into acute nonlymphocytic leukemia.
The case is presented of a 64-year-old man who has had recurrent psychiatric symptoms over several years, and now has minor evidence of a myeloproliferative disorder. He had a buccal carcinoma successfully treated 33 years previously, thus, the possibility of bone marrow infiltration has been excluded. An acquired translocation that was found in his bone marrow cells has not been previously reported in association with any neoplasm. The possible significance of the translocation to this patient is discussed.
Serial cytogenetic studies have been performed in four patients with myelodysplastic syndromes. In all four a 5q- alteration was present, but with a different pattern of presentation. One patient presented 5q- as the only alteration since diagnosis; two patients acquired this alteration during the course of the disease; and the fourth showed a 5q- plus other alterations since the first cytogenetic study. Likewise, three of the four patients showed a clone with trisomy 8 and without 5q-. According to these observations and others from the literature with similar cytogenetic behavior, we have analyzed the following points: 5q- as a primary event and as the only alteration, 5q- as a secondary event, 5q- plus other alterations, and presence of cytogenetically different clones. Analysis of these points suggests that the 5q- alteration can represent an early mutation conferring a slow capacity of expansion to the affected clones, with the possibility of cytogenetic evolution during the progression of the disease (about 30% of the patients). Likewise, the association of trisomy 8 clones with 5q- clones can be a nonrandom event.
The Philadelphia chromosome with the classic translocation t(9;22) was detected in all metaphases of a patient with essential thrombocythemia who presented without hematologic signs of chronic myeloid leukemia (CML). After 12 months of treatment with hydroxyurea followed by 6 months of busulfan, the disease transformed into lymphoid blast crisis with the immunophenotype of pre-pre-B cells frequently seen in lymphoid blast crisis of CML. This progression was not associated with karyotypic evolution because lymphoblasts contained only the Philadelphia chromosome. Further clinical course in this patient confirmed the development of a Philadelphia chromosome positive stem cell with predominantly megakaryocytic committment through partially megakaryocytic/lymphoid differentiation to purely lymphoid committment, a previously unreported transformation.
One hundred four patients with a diagnosis of polycythemia vera and a variable period of follow-up had one or more cytogenetic investigations. Chromosome abnormalities were found in 13% of untreated patients, in 56% of cases treated with radioactive phosphorus (32P) or cytotoxic drugs, and in 85% of patients in which transformation of the disease had occurred. Nonrandom chromosome abnormalities found before treatment included +8, +9, 13q-, 20q-; their prognostic value is little, as they are often associated with longstanding, stable disease. In contrast, 5q- anomaly and the appearance of subclones in patients with an abnormal karyotype were found to be poor prognostic signs, as they are usually coincidental with evolution of the disease to myelofibrosis or leukemia. Chromosomally two patterns of acute leukemia were observed in polycythemia vera patients. The first type resembles de novo acute leukemia, in that the clinical and cytologic characteristics of the disorder are easily defined by FAB criteria and the chromosome changes compatible with the types usually found in those conditions. In the second type, assignment to a FAB morphologic subgroup was more difficult, myelodysplastic changes were often present, and the karyotype showed complex abnormalities frequently involving chromosomes #5 and #7. All these features suggest the occurrence of secondary leukemia.
Acquired pseudo-Pelger-Huet neutrophils appeared in the peripheral blood of 11 of 83 Philadelphia-positive chronic myeloid leukemia patients during the blastic phase of the disease. Chromosomal analysis performed at the time of pseudo-Pelger appearance showed karyotype evolution with involvement of the short arms of a chromosome #17. In eight cases an i(17q) was present, in two cases an unbalanced translocation, and in one case monosomy. All these rearrangements had in common the loss of the distal end of the short arm. The morphologic and chromosomal study of the remaining 72 chronic myeloid leukemia patients demonstrated neither pseudo-Pelger nor 17p involvement.
We describe a cytogenetic abnormality with important diagnostic and prognostic implications. The translocation t(1;3)(p36;q21) is an acquired chromosomal rearrangement associated with myelodysplastic syndromes, which have a high propensity for conversion to refractory acute nonlymphocytic leukemia.
Fragile site studies were performed on a total of 126 patients with leukemia and other hematologic disorders including myelodysplastic syndrome (MDS) and polycythemia vera (PV). Compared with an incidence (6.0%) of heritable rare fragile sites in the healthy population, the frequency was not higher in the patient group (3.2%), as a whole. However, two cases of fra(17)(p12) in MDS appeared fourfold larger than expected for this group of patients. In one case, a homozygous carrier of fra(17)(p12) in PV was also very rarely expected from its population incidence. These findings suggested a possible role of rare fragile sites, at least in the etiology of these preleukemic or myeloproliferative disorders.
We report here the clinical and cytogenetic findings in a 3-year-old girl with pre-B-cell acute lymphoblastic leukemia presenting as a primary tumor of bone. A unique translocation t(7;15)(q22;q14-15) is described.
Chromosome analysis was performed on nine patients with subclinical adult T-cell leukemia (pre-ATL), who were asymptomatic ATL virus carriers. Fewer than 30% of their peripheral blood leukocytes were abnormal T-lymphocytes with nuclear abnormalities. ATL-associated antigen (ATLA) and anti-ATLA antibody were found in all patients. Eight had variable abnormal karyotypes in a fraction (5.0%-25.4%) of peripheral blood leukocytes stimulated with phytohemagglutinin or T-cell growth factor. There were no metaphases when a mitogen was not added. Four patients had a clonal chromosome abnormality. The chromosome abnormality seen in one patient was observed in the first study but not in a second study, when a different abnormality was seen. In five patients, an abnormal chromosome #14 with a break at band 14q11 was found. These findings indicate that unstable, chromosomally abnormal clones are characteristic of pre-ATL.
Clinical outcome was evaluated in 43 patients with a myelodysplastic syndrome or myeloproliferative disorder and a bone marrow clone containing a single chromosome abnormality: monosomy 7/del(7q), trisomy 8, i(17q), del(5q), del(20q), or a t(2;11). Those with one of the first three abnormalities (22 patients) had shorter survival, more frequent progression to leukemia, and less response to treatment with 13-Cis-retinoic acid than did those in the latter three groups (21 patients). Additional data on these subgroups of preleukemic patients may confirm the prognostic value of such karyotypic information.
Bone marrow monosomy 7 is the most frequent karyotypic abnormality found in patients with chronic myeloproliferative disorders. To a review of 46 previously reported pediatric patients we add three additional cases. Clinical presentation is usually dependent upon which cell lines are most perturbed in this pluripotent stem cell disorder. Sixteen (35%) children presented by their first birthday and 35 (76%) by their sixth birthday. Distinctive differences in presentation exist between infants, children, and adolescents. Younger patients were more symptomatic and had greater degree of hepatosplenomegaly and leukocytosis. The prognosis is very poor and death usually occurs within two years from complications attributable to cytopenias, cellular dysfunction, or transformation to acute nonlymphocytic leukemia. Implications for therapy are discussed.
Eighty-one consecutive hydroxyurea-treated patients with Philadelphia (Ph) chromosome negative chronic myeloproliferative disease were followed prospectively from 1981 to 1989; 35 of them had polycythemia vera, 32 had essential thrombocythemia, 12 had myelofibrosis, and 2 had myeloproliferative syndromes. The 81 patients were treated with hydroxyurea for a total of 3,804 months during the observation time. Only three patients had been treated with alkylating agents or 32P before start of hydroxyurea treatment. Four patients transformed into acute myeloid leukemia or myelodysplastic syndromes; three of these patients had essential thrombocythemia, and one had a myeloproliferative syndrome. Two patients died of solid cancers. Five out of 53 evaluable patients (9%) had pretreatment clonal cytogenetic abnormalities involving chromosomes 1, 9, 20, and 21. At follow-up, during or after hydroxyurea treatment, 15% had cytogenetic abnormalities, an unexpectedly low frequency compared to the previously reported frequency in patients with polycythemia vera treated with alkylating agents. None of our patients who developed cytogenetic clonal changes during hydroxyurea therapy had polycythemia vera. However, follow-up is too short to draw any conclusions about the mutagenic potential of hydroxyurea compared to alkylating agents.
Explore the source record for details and available documents.