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At least 865 records · Page 48Linked to original sources
PubMed2001

Additional cytogenetic changes do not influence the outcome of patients with newly diagnosed acute promyelocytic leukemia treated with an ATRA plus anthracyclin based protocol. A report of the Spanish group PETHEMA.

BACKGROUND AND OBJECTIVES: To analyze in patients with de novo acute promyelocytic leukemia (APL) treated with an ATRA plus anthracyclin-based protocol if the presence of additional cytogenetic aberrations to the t(15;17) influences: 1. clinical and biological presenting features; 2. disease outcome. DESIGN AND METHODS: One hundred and thirteen patients with newly diagnosed APL enrolled in the APL-96 protocol of the Spanish PETHEMA group were studied by conventional karyotyping, FISH and RT-PCR for the PML-RARa fusion. Treatment was homogeneous in all cases and consisted of anthracyclines and ATRA. RESULTS: Additional chromosome aberrations were observed in 30% of cases. The most frequent secondary changes were +8 (14 cases), and abnormalities of chromosomes 9 or 3 (4 patients each), and of chromosomes 1 and 8 (3 cases each). No clinical, biological, morphological, immunophenotypic or molecular differences were observed between the group of APLs with t(15;17) alone and the group of patients with additional changes. Patients with additional changes had a higher rates of complete remission (CR) and 4-year disease-free survival (DFS) (97%, and 97%, respectively) than patients with t(15;17) alone (CR, 70% and DFS, 84%) but these differences were not statistically significant. INTERPRETATION AND CONCLUSIONS: Patients with APL and additional cytogenetic abnormalities do not show different clinical, biological, morphological or molecular features as compared to patients with t(15;17) alone. The prognosis of patients with APL and t(15;17) alone and those with additional changes is similar in both groups. This study indicates that there is no rationale for administering more intensive treatment in APL patients with additional cytogenetic abnormalities receiving ATRA plus anthracycline-based chemotherapy.

Adolescent↗
PubMed2001

Fluorescence in situ hybridization study of TEL/AML1 fusion and other abnormalities involving TEL and AML1 genes. Correlation with cytogenetic findings and prognostic value in children with acute lymphocytic leukemia.

BACKGROUND AND OBJECTIVES: The TEL/AML1 fusion is the most common genetic abnormality found in childhood acute lymphoblastic leukemias (ALL). Although it is very difficult to identify by conventional cytogenetic techniques it can be readily detected using fluorescence in situ hybridization (FISH). We carried out cytogenetic and FISH studies on 42 children with ALL in order to know the frequency of this translocation in our population, the incidence of TEL and/or AML1 gene alterations, and their correlation with clinical evolution and prognosis. In addition, we performed reverse transcription polymerase chain reaction (RT-PCR) in some cases, confirming the feasibility of FISH techniques in the detection of this translocation. DESIGN AND METHODS: Bone marrow samples were obtained from 42 childhood ALL patients. The copy number of AML1 and TEL genes were studied using fluorescent in situ hybridization with a dual color DNA probe specific for the AML1 and TEL genes. RESULTS: We found a frequency of TEL/AML1 fusion of 17% in our sample. Double TEL/AML1 fusion, lack of TEL signal and extra AML1 signals were frequent additional FISH abnormalities. Duplication of a chromosomal complement, deletion of chromosome 12p arm, and polysomies of chromosome 21 are plausible explanations for these additional FISH findings. However, a relatively high proportion of our cases (9.5%) presented specific amplification of AML1. A statistically significant difference in prognosis was found between patients with and without these additional AML1 or TEL FISH alterations (p<0.02), which could be related to the presence of specific karyotypes. INTERPRETATIONS AND CONCLUSIONS: The frequency of TEL/AML1 fusion is similar to that found in other populations (17%). We found that FISH analysis of AML and TEL is related to the evolution of the disease. The absence of alterations in these genes revealed by FISH could be indicative of bad prognosis, while the presence of alterations is related to a good evolution. Our results suggest that interphase FISH analysis to search for alterations in AML and TEL genes could be extremely useful for complementing cytogenetic studies and for providing additional information about the possible outcome of the disease in patients with ALL.

Adolescent↗
PubMed2002

Cytogenetic, fluorescent in situ hybridization & reverse transcriptase-polymerase chain reaction analysis in acute promyelocytic leukaemia patients.

BACKGROUND & OBJECTIVES: The presence of t(15;17) or PML-RAR alpha fusion transcript is the diagnostic hallmark of patients with acute promyelocytic leukaemia (APL). Cytogenetic (CG), fluorescent in situ hybridization (FISH) and reverse transcriptase-polymerase chain reaction (RT-PCR) are mainly the techniques used for detecting this abnormality. The objective of this study was to compare and assess the role of CG, FISH and RT-PCR in the diagnosis of APL. METHODS: CG, FISH and RT-PCR analysis were performed in 29 patients with APL (28 M3, 1 M3v; 27 studied at diagnosis and 2 at relapse). RESULTS: Karotypes obtained in 25 patients revealed t(15;17) in 21 normal karyotype in 3 and trisomy 8 in 1 patient. In 26 patients FISH was positive for PML-RAR alpha fusion in both interphase (IP) and metaphase, two were negative and one patient had no cells for FISH analysis. IP FISH confirmed the fusion of PML-RAR alpha in all patients with t(15;17) detected by CG. RT-PCR was positive in the 22 patients analyzed (7 patients did not have RT-PCR). PCR was positive in the 3 patients with cytogenetically normal karyotypes and in one patient when karyotyping was a failure. CG detected 21 (72.4%) patients with t(15;17) of which additional chromosomal abnormalities were detected in 20 per cent of patients with successful karyotype. INTERPRETATION & CONCLUSION: FISH and RT-PCR were useful in detecting PML-RAR alpha fusion in cytogenetically normal patients and those in when karyotyping was a failure and can be used in routine analysis for rapid confirmation of t(15;17) in patients with acute myeloid leukaemia.

Adolescent↗
PubMedDate not supplied

[Peculiarities of the influence of chemical and physical factors on cytogenetic indices of root meristem in Pisum sativum L].

The results of comparative analysis of cytogenetic effects of various chemical and physical factors on meristemic cells of field pea (Pisum sativum L.) are presented. Cytogenetic effects of aluminum, cadmium and selenium compounds as well as X-ray irradiation were studied. Cytogenetic indices were investigated for different doses of the above factors and peculiarities of their influence on the ratio of mitotic phases were analyzed. The increasing in the proportion of cells at the specific mitotic stage was revealed. There were anaphase stage for aluminum chloride, prophase stage for cadmium chloride, meta- and anaphase stages for sodium selenate, and telophase stage for X-rays. Investigated chemical elements may be ranged according to their ability to induce the aberrant anaphase frequency in the row: Se (from 3.75 x 10(-6) M) > A1 (from 3.86 x 10(-5) M) > Cd (from 8.44 x 10(-5) M). Maximal experimental dose of X-ray irradiation (9.03 x 10(-3) C/kg) induces the frequency of chromosome aberration similar to those induced by maximal experimental doses of aluminum and selenium (3.86 x 10(-4) M and 8.34 x 10(-6) M).

Aluminum Chloride↗
PubMed2001

[The results of 14-year cytogenetic monitoring of priority follow-up groups of Chernobyl accident victims].

The paper presents the results of 14-year (1987-2000) random cytogenetic monitoring of the Ukraine's population exposed to radiation due to the Chernobyl Atomic Power Plant accident. Conventional, G-banding, and molecular (FISH-WCP) cytogenetic methods were used to examine groups of victims exposed to radiation of varying intensity (reconvalescents diagnosed as having acute radiation disease, liquidators, Chernobyl power plant staff, and persons who had lived in the radionuclide-polluted areas, etc.). The examinees from all groups were found to have a considerable increase in the incidence of chromosomal aberrations in the peripheral lymphocytes as compared to their spontaneous levels. There was an interindividual variability in the chromosomal aberrations under identical radiation conditions. It was ascertained that even small human doses of long-term ionizing radiation could induce specific chromosomal aberrations. The findings show that conventional cytogenetic monitoring, and particularly by applying FISH and WCP methods, is an good procedure for assessing the human cell genetic apparatuses after radiation.

Chromosome Aberrations↗
PubMed2002

Clinical significance of cytogenetic analysis in chronic myeloid leukemia (with report of 155 cases).

OBJECTIVE: To explore the relation of cytogenetic changes in patients with chronic myeloid leukemia (CML) to the diagnosis, clinical staging and therapy protocol of the disease. METHODS: According to established diagnostic criteria, 155 CML patients were divided into 3 groups and 3 clinical phases were identified on the basis of their Sokal scores. The bone marrow was obtained for G banding and karyotype analysis. RESULTS: It was found that 148 patients (95.5%) carried Ph1 chromosome. Among the other 7 cases without Ph1 chromosome, 4 were identified as being bcr/abl fusion gene positive. The ratio of additional cytogenetic abnormalities were higher in patients in blast crisis or accelerated phase than in patients in chronic phase. CONCLUSION: CML consists of a group of diseases with high heterogeneity, and the prognoses of the patients mostly depend on the malignancy of the tumor. The occurrence of additional chromosomal abnormality is highly correlative with the risk index and clinical staging of the patients, which may serve prognostic purposes. Conventional cytogenetic analysis may help evaluate the therapeutic effect and make subsequent clinical decisions, and may also facilitate new karyotype identification.

Adolescent↗
PubMed2002

[Cytogenetic feature of acute biphenotypic leukemia].

BACKGROUND & OBJECTIVE: Since the diagnostic criterion of acute biphenotypic leukemia(BAL) was recommended by European Group for the Immunological Characteristics of Leukemia (EGIL) in 1995, the reports on cytogenetic feature of BAL can be seen in homeland and outside, but the case numbers in the reports were low. This study was designed to explore the cytogenetic feature of BAL. METHODS: The FAB subsets of fifty-six BAL cases were established by morphology/cytochemistry; and surface immunophenotyping was performed by flow cytometry using a broad panel of lymphoid- and myeloid-associated monoclonal antibodies through directly immunofluorescence technique; karyotype analysis was carried out by reverse heating giemsa (RHG). RESULTS: The data from our study showed that the cytogenetic feature of BAL possess a certain degrees of heterogeneity. In all cases, 44.4% were normal karyotype, 55.6% were clonal chromosome aberration. In clonal chromosome aberration, Ph chromosome abnormality occurred 23.2% and in matched AML controls was 0%. Ph chromosome abnormality occurred 39.3% in group of coexpression of myeloid and B lymphoid lineage; Ph chromosome aberration occurred 0% in group of coexpression of myeloid and T-lymphoid lineage. The other associated clonal chromosome aberrations were t (8; 21), t (15; 17), t (9; 22), inv (16), and not associated clonal chromosome aberration were t (12; 17), t (14; 15), t (3; 6), +21, complex aberration, etc. CONCLUSION: The generalized abnormality of t (9; 22) in BAL indicate that the blast cells of BAL were derived from earlier hematopoietic stem/progenitor cell.

Adult↗
PubMed2003

The prognostic value of FISH as an adjunct to conventional cytogenetics for the detection of cryptic gene rearrangements on chromosome 16. A retrospective investigation of 13 patients from Northern Ireland diagnosed with M4Eo acute myeloid leukaemia.

M4Eo acute myeloid leukaemia (AML) patients with the typical chromosome 16 abnormalities have a favourable prognosis. These subtle 16q22 gene rearrangements can be difficult to detect by conventional cytogenetic methods and if missed could lead to the incorrect assignment of prognostic group and hence subsequent treatment strategies. We retrospectively studied 13 patients diagnosed with M4Eo AML for such chromosome 16 abnormalities comparing conventional cytogenetic (G-banding) and molecular (FISH) methods. G-banded analysis detected only 2 patients with definite chromosome 16 abnormalities whereas FISH detected 4 patients, one with the typical inversion and three with the typical chromosome 16 translocation. FISH analysis also confirmed a false +ve G-banded result in one patient and a false -ve G-banded result in another patient. Finally, FISH confirmed a deletion of one chromosome 16 homologue in another patient indicating a poor prognosis. The overall survival of patients with the typical 16q22 rearrangements (n=4) was also significantly better (P=0.007) than patients with normal chromosome 16 homologues or having other numerical and/or structural abnormalities (n=9). This set of data shows that FISH is a more accurate method for the detection of cryptic 16q22 gene rearrangements and because of the prognostic implications has become a mandatory test along with conventional cytogenetics for all newly diagnosed M4Eo AML patients in Northern Ireland.

Adult↗
PubMed2003

[Cytogenetic alterations in field workers routinely exposed to pesticides in Bogota flowers farms].

Frequency of cytogenetic alterations (micronuclei and chromosome aberrations), DNA repair deficiencies and acetylcholinesterase activity was determined for field workers in Bogotá, Colombia. These workers were regularly exposed to organophosphate and carbamate insecticides while employed on farms for flower growing. Interviews were conducted with 31 workers associated with occupational risk of pesticides exposure and 30 without exposure. A standard cytogenetic assay was used to determine chromosome aberrations and micronuclei frequencies. In addition, a challenge assay assessed response to gamma-rays as an indication of DNA repair deficiencies--cells were exposed to gamma-rays in vitro and the frequencies of chromosome aberrations in post-irradiation metaphase cells were quantified. The data were evaluated for percentage of aberrant cells, cells with chromosome aberrations and frequencies of chromatid breaks per 100 metaphase cells in each worker. The exposed group had a significantly higher frequency of cells with chromosome aberrations and micronuclei as compared with the non-exposed group (p = 0.02). However, the challenge assay did not indicate a significant difference (p > 0.1). These findings require confirmation by further analytical studies involving larger sample. Cytogenetic and toxicological studies, in conjunction with thorough clinical examination are recommended.

Acetylcholinesterase↗
PubMed2003

Cytogenetic evaluation, fluorescence in situ hybridization, and molecular study of psu idic(X)(pter-->q22.3::q22.3-->pter) chromosome abberation in a girl with moderate growth retardation.

Combined cytogenetic, fluorescence in situ hybridization (FISH), and molecular analysis are useful in the diagnosis of sex chromosome aberrations. These methods were used in karyotype analysis of a 4-year-old girl with mild dysmorphism and growth retardation. Standard cytogenetic and FISH analysis was done on slides obtained from peripheral blood lymphocyte culture, and the molecular study was performed by using DNA polymorphism analysis. Both parents had normal karyotypes. Chromosome analysis of the proband identified the karyotype with 46 chromosomes and a late replicating dicentric X. Interphase FISH with an alpha satellite X centromere probe revealed two mosaic cell lines. Three signals were observed at 84.5% and one signal at 15.5% of the interphase cells. Molecular analysis showed that the dicentric X chromosome was of paternal origin. Based on this study, we concluded that the karyotype of the patient was 45,X/46,X, psu idic(X)(q22.3), with the trisomy Xpter-->q22.3 and monosomy Xqter-->q22.3. Dicentric X was the result of an isolocal break in both chromatids of the paternal X chromosome and subsequent rejoining of the broken ends, followed by the inactivation of one centromere. This study illustrates the usefulness of combined cytogenetic and molecular investigations for the detection of mosaicism, understanding the mechanism of the formation and parental origin of chromosomal rearrangement, and establishing the diagnosis.

Child, Preschool↗
PubMed1975

[Radiology and cytogenetic (author's transl)].

One of the major advances in medicine where Radiology is able to be of considerable aid is in the field of Cytogenetics. Parallel with the development of Cytogenetics a group of radiologists described radiological signs associated with chromosomal abnormalities, which became the basis of Radio Cytogenetics. In the last few years radiocytogenetics has provided a list of various signs commonly noted in diseases with chromosomal abnormalities. In spite of the adjuvant and secondary role of radiology, its techniques help in the early diagnosis and genetic counseling. In the final assessment the diagnosis of any chromosomal anomaly needs to depend on a combination of clinical, radiological and genetic features.

Adolescent↗
PubMed2003

[Molecular cytogenetic characteristics of chromosome imbalance in cells of spontaneous human abortion fetuses with low proliferative activity in vitro].

Karyotyping of noncultivated cells of 60 first-trimester spontaneous abortions (blighted ova and missed abortions) was carried out using fluorescence in situ hybridization (FISH) with centromere-specific DNA probes for all chromosomes of the karyotype. Conventional cytogenetic study of these abortions was impossible because of cell culture failures. The algorithm is proposed for molecular cytogenetic FISH analysis of interphase karyotypes. Chromosome abnormalities were found in 32 fetuses (53.3%). In groups of missed abortions and blighted ova, the frequency of numerical chromosome abnormalities was 50 and 60%, respectively. Both the numerical chromosome abnormalities typical of spontaneous human abortions (autosomal trisomies, sex chromosome aneuploidy, and polyploidy) and a relatively rare type of genomic imbalance unidentifiable by standard cytogenetic analysis (autosomal monosomies 7, 15, 21, and 22 in mosaic state) were observed. The frequency of these type of chromosome abnormalities comprised 19% of all known karyotype abnormalities determined in spontaneously perished embryos. Note that the level of confined placental mosaicism in embryos with low cell proliferative activity was 25%, which is substantially higher than the corresponding parameter (1-2%) determined by prenatal diagnosis of chromosome abnormalities in developing embryos. The results of interphase FISH analysis of cells with low proliferative activity in vitro suggest that the pathology of early fetal development and missed abortion in humans are associated with a wider spectrum of chromosome abnormalities.

Abortion, Spontaneous↗
PubMed2003

The cytogenetic investigation on peripheral blood lymphocytes of a patient with thyroid cancer.

The cytogenetic investigation of a patient with follicular cancer in the left lobe of the thyroid gland was made. The study was carried out on blood lymphocytes as described earlier (1) before and after hemithyroidectomy and in different terms during the therapeutic treatment. The great number of cells with polyploid and hyperaneuploid (13% and 5% correspondingly) were revealed in the patient on the day before the operation and confirmed malignant character of the tumour, which was confirmed histologically. It is believed that cytogenetic markers as trisomies 4-th chromosome or/and X chromosome, detected in hyperaneuploids cells before the beginning of a treatment, might be specific markers for follicular thyroid cancer (FTC). The cytogenetic examination of the patient, carried out on peripheral blood lymphocytes in dynamics, allowed to observe changes of background chromosomal breaches under influence of surgical and therapeutic treatment and to estimate their efficiency.

Adult↗
PubMedDate not supplied

[The distribution of individual radiation doses in liquidators of Chernobyl accident using cytogenetic analysis].

The cytogenetic screening was carried out in 100 Chernobyl clean-up workers (liquidators) with registered doses during 1 year after exposure. The bayesian analysis has been applied for constructing the individual distribution of probability density for biological doses estimated from dicentric and centric ring yields in liquidators. The coincidence of the biological and registered dose has been found in 25% of cases; among the rest persons the documented doses exceeded the biological estimations in 25% of cases and the cytogenetic doses were higher than registered ones in 50% of cases. The total distribution of biological doses was constructed by pooling the individual data in 50 mGy dose intervals. The distribution obtained had the maximum at 300-350 mGy and contained 68% of probability density in the dose range 0-1000 mGy. The probabilistic approach in cohort biodosimetry showed the necessity of corrections in radiogenic risk assessment for Chernobyl liquidators. The advantages of bayesian technique for biodosimetrical treatment of cytogenetic data in conditions of small number of cells scored and low aberration yields induced by low dose irradiation were discussed.

Adult↗
PubMed2004

Cytogenetic characterization of seven human cancer cell lines by combining G- and R-banding, M-FISH, CGH and chromosome- and locus-specific FISH.

Leukemia cell lines K562, KG1a, U937, HL60, Jurkat and solid tumor cell lines A549 and M4Beu are widely used in studies of cell cycle, apoptosis and adhesion mechanisms in cancer cells. Although the K562 and U937 cell lines were previously subjected to a detailed cytogenetic characterization, only a few molecular cytogenetic investigations have been performed on the other five cell lines. We combined several molecular cytogenetic techniques, such as fluorescence in situ hybridization (FISH), multicolor FISH (M-FISH), and comparative genomic hybridization (CGH) to demonstrate the precise genetic aberrations in tumor genomes of these seven cell lines. This information may be useful for multiple studies on these cell lines, providing a genetic basis for the interpretations of experimental findings.

Cell Line, Tumor↗
PubMedDate not supplied

[Results of dynamic cytogenetic study of children and teenagers living in areas, radioactive by contaminated after the Chernobyl accident].

Results of multiyear cytogenetic study of children and teenagers living in areas, radioactive by contaminated after Chernobyl accident, were adduced. Mean density of 137Cs contamination in two compared living areas were 111 and 200 kBq/m2 and mean external doses accumulated for 1986-2001 were 6.7 and 11.4 mGy correspondingly. Averaged thyroid doses receives by subjects of all age groups in the second area were approximately 1.5 times higher than in the first area; in the youngest group (0-1 year) the doses were 114.3 and 174.3 mGy. During 17 years cytogenetic investigation approximately from 30% to 60% of examined persons were observed the increased level of chromosome aberrations in lymphocytes of peripheral blood. Average frequency of unstable aberrations (acentrics, dicentrics and centric rings) constituted about 0.4 per 100 cells (0.22 per 100 cells in controls) during all period of observation. Level of marker aberrations (dicentrics and centric rings) was increased almost all times of study and varied within 0.04-0.19 per 100 cell (0.03 in control group). The parallel investigation of frequency of stable aberrations by FISH method showed up their level about 3 times exceeding observed dicentrics level. Comparably higher indexes of cytogenetic disturbances were revealed in group exposed in utero during period of accident.

Adolescent↗
PubMed2005

Cytogenetic characteristics of patients with signs and symptoms of myelodysplastic syndromes in the State of Pará, Brazil.

The myelodysplastic syndromes (MDS) are clonal hematopoietic diseases characterized by medullary dysplasia, cytopenias, and frequent evolution to acute myeloid leukemia. In 1982, the French-American-British (FAB) group proposed a classification for the MDS, based on morphological characteristics of peripheral blood and of the bone marrow. Later, cytogenetics proved to be a useful tool for the refinement of prognosis, through the use of the International Prognosis Score System (IPSS), as well as through evidence of clonality. Recently, the World Health Organization (WHO) proposed a new classification for the MDS, based on significant modifications of the FAB proposal, with the inclusion of chromosome analysis. A cytogenetic analysis was made of 17 patients with symptoms of MDS in the State of Para, based on WHO recommendations, and application of the IPSS. Good metaphases were obtained for 13 patients; 12 had a normal karyotype and only one had a clonal abnormality, del(3)(p25). The genes related to neoplastic processes that have been mapped to 3p are: XPC in 3p25.1 and FANCD2 and VHL in 3p25-26. Four patients had classic symptoms of MDS; in the rest the possibility of MDS was excluded or several months of observation before diagnosis were recommended. Among those with MDS, it was not possible to apply IPSS and WHO recommendations, because fundamental data were lacking, specifically the medullary blast and ring sideroblast counts. We advocate the implementation of routine cytogenetic analyses for the study of MDS, especially in patients with moderate hematopoietic dysplasia.

Adolescent↗
PubMed2005

Population-based age-specific incidences of cytogenetic subgroups of acute myeloid leukemia.

BACKGROUND AND OBJECTIVES: It is well known that the different cytogenetic subgroups of acute myeloid leukemia (AML) show different age-specific frequencies. For example, balanced translocations tend to be found in younger patients while complex aberrant karyotypes are usually found in elderly patients with AML. However, detailed data on the population-based age-dependent incidences of distinct cytogenetic subtypes as well as of molecular mutations are lacking. DESIGN AND METHODS: We evaluated the population-based age-specific incidences of different cytogenetic subgroups in 2555 patients with AML between 21 and 70 years of age. We also investigated the association of specific molecular markers (FLT3-M, FLT3- TKD, MLL-PTD, NRAS, CEPBA, KITD816). RESULTS: The incidence of balanced translocations was rather constant over lifetime. In contrast, the incidence of unbalanced aberrations and especially complex aberrant karyotypes increased sharply with age. There were also different age-specific incidences of some recurrent molecular mutations. INTERPRETATION AND CONCLUSIONS: These results are suggestive of different mechanisms in the pathogenesis of AML.

Adult↗