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PubMed2006

Cytogenetics and age are major determinants of outcome in intensively treated acute myeloid leukemia patients older than 60 years: results from AMLSG trial AML HD98-B.

To assess the prognostic impact of cytogenetics in elderly patients with acute myeloid leukemia (AML) receiving intensive induction and consolidation treatment according to a single protocol specifically designed for patients above age 60, pretreatment samples from 361 patients registered for the AML HD98-B trial of the German-Austrian AML Study Group were analyzed by chromosome banding and fluorescence in situ hybridization, and cytogenetic findings were correlated with outcome. Using a proportional hazards model with backward selection, 3 prognostic subgroups were identified based on the influence of cytogenetic abnormalities on overall survival (OS): low-risk, t(15;17), and inv(16) in 25 of 361 patients (7%); standard-risk, normal karyotype, t(8;21), t(11q23), +8 within a noncomplex karyotype, and +11 within a noncomplex karyotype in 208 of 361 patients (58%); high-risk, all other aberrations in 128 of 361 patients (35%). On multivariate analysis, high-risk cytogenetics (hazard ratio [HR], 2.24) and age above 70 years (HR, 2.34) were independent prognostic factors affecting OS, and stratification according to these parameters demonstrated that a large subgroup of patients (55%), characterized by age 70 or older or high-risk cytogenetics, or both, had very unfavorable treatment results despite intensive chemotherapy. Thus, karyotype and age are major determinants of outcome in elderly patients with AML.

Acute Disease↗
PubMed2001

Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki.

Identification of cytogenetic abnormalities is an important clue for the elucidation of carcinogenesis. However, the cytogenetic and clinical significance of adult T-cell leukemia/lymphoma (ATLL) is still unclear. To address this point, cytogenetic findings in 50 cases of ATLL were correlated with clinical characteristics. Karyotypes showed a high degree of diversity and complexity. Aneuploidy and multiple breaks (at least 6) were observed frequently in acute and lymphoma subtypes of ATLL. Breakpoints tended to cluster at specific chromosomal regions, although characteristic cytogenetic subgroups of abnormalities were not found. Of these, aberrations of chromosomes 1p, 1q, 1q10-21, 10p, 10p13, 12q, 14q, and 14q32 correlated with one or more of the following clinical features: hepatosplenomegaly, elevated lactate dehydrogenase, hypercalcemia, and unusual immunophenotype, all indicators of clinical severity of ATLL. Multiple breaks (at least 6); abnormalities of chromosomes 1p, 1p22, 1q, 1q10-21, 2q, 3q, 3q10-12, 3q21, 14q, 14q32, and 17q; and partial loss of chromosomes 2q, 9p, 14p, 14q, and 17q regions correlated with shorter survival. These cytogenetic findings are relevant in predicting clinical outcome and provide useful information to identify chromosomal regions responsible for leukemogenesis. This study also indicates that one model of an oncogenic mechanism, activation of a proto-oncogene by translocation of a T-cell-receptor gene, may not be applicable to the main pathway of development of ATLL and that a multistep process of leukemogenesis is required for the development of ATLL. (Blood. 2001;97:3612-3620)

Adult↗
PubMed2006

Biological dosimetry -- cytogenetics findings at persons occupationally exposed to ionizing radiation.

A large number of physical and chemical agents are capable to course chromosomal aberrations. Ionizing radiation is frequent and well known course of chromosomal aberrations. If deoxyribonucleic acid (DNA) is irradiated before synthesis chromosomal-type aberrations are caused. Chromatid-type aberrations are results of DNA damages occurred during or after synthesis. Some of these changes could exist at patients several years after exposition. Biological dosimetry-cytogenetics analysis of persons occupational exposed to ionizing radiation in Federation of Bosnia and Herzegovina have been carried out in "Center for Human Genetics" of Medical Faculty in Sarajevo. In this study we have evaluated cytogenetics findings of persons employed in a zone of radiation. Cytogenetics findings have been demonstrated in allowed limit in 154 (81.1%) examinees, and cytogenetics findings were out of normal values in 36 (18.9%) examinees. The majorities who have been employed in a zone of ionizing radiation were in age group 40-44 (25.3%) and age group 45-49 (24.7%). Radiological technicians (35.7%) were exposed the most to ionizing radiation, than clinical nurse specialists (14.7%), radiologists (11.1), physicians (7.4%) machines technicians (6.3%), pneumologists (4.7%), orthopedists (4.2%) and scrub nurses (4.2%). Biological dosimetry-cytogenetics analysis have been carried out at 108 (56.8%) male and 82 (43.2%) female examinees. The most frequent aberration have been presented with 26.8% in the form of acentric fragments, than chromatid fragments with 21.2%, dicentric chromosomes with 19.5%, gaps with 18.7%, minutes with 12.2% and inter-arm interchanges with 1.6%.

Adult↗
PubMed1983

A comparison of fertility assessment and cytogenetic analysis for the detection of translocation heterozygotes in CD-1 mice.

A comparison of the fertility and cytogenetic analyses and the combination of both techniques as generally used in the heritable translocation assay was conducted with triethylenemelamine (TEM). CD-1 mice were used as the F0 generation and were divided into two groups that received i.p. either distilled water (control) or TEM at 0.15-0.20 mg/kg. A total of 226 F1 males were generated (125 control, 101 TEM group) and were subjected to both sequential fertility assessment and direct cytogenetic analysis. A litter size of 10 was used for the fertility assessment method and 25 cells per animal were scored for the direct cytogenetic analysis; 20 animals were initially identified as translocation carriers based on the fertility analysis and 16 animals were identified by cytogenetic analysis. When these data were compared and the discrepancies resolved, each method separately identified 16 translocation carriers (15 animals common to both methods). With the combination of data for both techniques, as is done in the heritable translocation assay, a total of 17 translocation heterozygotes were identified. Use of either the fertility method alone or the cytogenetic method as routinely used would have resulted in the separate identification of 16 translocation carriers per procedure, with each method failing to identify one carrier.

Animals↗
PubMed2004

Malignant progression in meningioma: documentation of a series and analysis of cytogenetic findings.

OBJECT: The malignant progression of benign tumors is well documented in gliomas and other systemic lesions. It is also well known that some meningiomas become progressively aggressive despite their original benign status. The theory of clonal evolution is widely believed to explain malignant progression in meningioma; however, the data used to explain stepwise progression have typically been derived from the cytogenetic analysis of different types of tumors of different grades and in different patients. In this study, the authors examined the data obtained in a group of patients with meningiomas that showed clear histopathological progression toward a higher grade of malignancy and then analyzed the underlying cytogenetic findings. METHODS: Among 175 patients with recurrent meningiomas, 11 tumors showed a histopathological progression toward a higher grade that was associated with an aggressive clinical course. Six tumors progressed to malignancy and five to the atypical category over a period averaging 112 months. Tests for MIB-1 and p53 and cytogenetic studies with the fluorescence in situ hybridization (FISH) method were performed in successive specimens obtained in four patients. The MIB-1 value increased in subsequent samples of tumors. Cytogenetic analysis with FISH showed deletions of 22, 1p, and 14q. In all but one case, these aberrations were also present in the previous specimen despite its lower hispathological grade. CONCLUSIONS: The authors documented the progression of meningiomas from benign to a higher histological grade. These tumors were associated with a complex karyotype that was present ab initio in a histologically lower-grade tumor, contradicting the stepwise clonal evolution model. Although it was limited to the tested probes, the FISH method appears to be more accurate than the standard cytogenetic one in detecting these alterations. Tumors that present with complex genetic alterations, even those with a benign histological grade, are potentially aggressive and require closer follow up.

Adult↗
PubMed1999

Stage, percentage of basophils at diagnosis, hematologic response within six months, cytogenetic response in the first year: the main prognostic variables affecting outcome in patients with chronic myeloid leukemia in chronic phase treated with interferon-alpha. Results of the CML89 trial of the Spanish Collaborative Group on interferon-alpha2a and CML.

BACKGROUND AND OBJECTIVE: Interferon-a (IFN) is increasingly being used as the drug of choice in chronic myeloid leukemia patients. The main objectives of the study were to study the influence of the classic prognostic variables and response to IFN, and to assess the influence of this response on the course of the disease and survival. DESIGN AND METHODS: Single arm, prospective, multicenter study, without a control group. Only Ph1-positive CML patients were included. The treatment scheme was biphasic: the patients first received standard chemotherapy and thereafter IFN-a2a was used as monotherapy, with a target dose of 9 MU/d/s.c. RESULTS: Twenty-one centers in Spain enrolled 132 patients (72 men, 60 women). The median dose of IFN given was 5.8 MU/d, and the median treatment duration was 431 days (range: 18-2,597). Seventy-two percent of patients obtained a hematologic response in the first six months of IFN treatment. Genetic response was obtained in 47% of the patients, and the response was major or complete in 27% and 19%, respectively. The median time to obtain this response was 7, 9, and 18 months for minimal, partial and complete genetic response, respectively. Multivariant analysis showed that only a higher percentage of basophils at diagnosis was associated with a worse hematologic response at six months (p=0.001) (OR: 1.23) and with a worse cytogenetic response in the first year of IFN therapy (p=0.018) (OR: 1.4). Over an observation period of 8 years, 35.6% of the patients died, and 85 (64.4%) remained alive. With a median follow-up of 42 months (3.7-98), the 6-year projected probabilities of survival and transformation-free survival were 0.61+/-0.07 vs. 0.54+/-0.07, respectively. Patients with Kantarjian's stage 3 disease or in a high-risk Sokal group had lower probabilities of survival, but these systems did not adequately discriminate in our series. Obtaining a complete hematologic response in the first six months of IFN therapy was favorable in terms of overall survival (p=0.05; HR=0.33). Cox's analysis demonstrated that obtaining a cytogenetic response in the first year was independently associated with better overall survival (p=0.04; HR=0.19) and better transformation-free survival (p=0.0035; HR=0.11). INTERPRETATION AND CONCLUSIONS: Nearly half of the patients obtained some degree of Philadelphia suppression, which was major in 27%, and complete in 19%. A higher percentage of basophils at diagnosis was the only variable associated with a lower probability of cytogenetic response. Obtaining a cytogenetic response during the first year of IFN treatment was a favorable and independent variable in terms of survival and transformation-free survival. Obtaining a major cytogenetic response during this period decreased the risk of transformation twenty times. Our results suggest that the effect of IFN on survival is independent of the classic prognostic variables.

Adolescent↗
PubMed2001

The prognostic value of Bcl-XL gene expression for remission induction is influenced by cytogenetics in adult acute myeloid leukemia.

BACKGROUND AND OBJECTIVES: There is growing evidence that altered expression of genes belonging to the BcL-2 family of apoptosis regulators might influence chemotherapy-induced apoptosis in malignant cells and therefore could confer multidrug resistance. So far expression studies of apoptosis-regulating genes on acute myeloid leukemia (AML) have mainly focused on Bcl-2 itself and most of them have not included other factors involved in drug resistance or apoptosis as parameters determining response to chemotherapy, disease progression and survival. DESIGN AND METHODS: We therefore examined Bcl-2, Bcl-XL and Bax gene expression in 235 adult patients with de novo or secondary myeloid leukemia. The expression levels were correlated with established prognostic factors such as age, cytogentic aberrations, mdr1 gene expression and clinical outcome in a multivariate analysis. RESULTS: Bcl-2 and Bcl-XL positive patients had a much lower white blood cell count than negative patients (p<0.001 and p=0.003, respectively). Bcl-2 expression correlated with FAB subtype M0 (p=0.03), Bax with M5b (p=0.02) and Bcl-XL with M6 (p=0.005). Mdr1 expression was more frequently seen in Bcl-2 and Bcl-XL positive patients (p=0.03 and p=0.02, respectively). Remarkably Bax was significantly less frequently expressed in de novo AML patients with high risk cytogenetics (p=0.007). No difference in expression was recognized for Bcl-2 or Bcl-XL when statistical analyses were done for cytogenetic risk groups. However, in the multivariate analysis regarding the group of de novo AML patients < or =60 years with intermediate risk cytogenetics, Bcl-XL expression was found to be an independent negative prognostic factor for response to induction therapy (p=0.04). In contrast, no prognostic impact of Bcl-XL expression on treatment response was seen within the group of patients with high risk cytogenetic findings. Neither Bcl-2 nor Bax nor Bcl-XL expression had a significant influence on overall or disease-free survival. INTERPRETATION AND CONCLUSIONS: These data indicate that the prognostic value of Bcl-XL gene expression for treatment response in AML patients < or =60 years is dependent on cytogenetics.

Acute Disease↗
PubMed2001

Interferon alpha plus intermittent oral Ara-C ocfosfate (YNK-01) in chronic myeloid leukemia primarily resistant or with minimal cytogenetic response to interferon.

BACKGROUND AND OBJECTIVES: Subcutaneous Ara-C plus interferon (IFN) produces more cytogenetic responses than IFN in chronic myeloid leukemia (CML) but a greater toxicity. The objective of this study was to determine the efficacy and tolerance of IFN plus oral Ara-C ocfosfate (YNK-01) in IFN-resistant CML patients. DESIGN AND METHODS: A phase II pilot study was conducted in 19 CML patients primarily resistant or with minimal cytogenetic response to IFN. Patients were scheduled to receive 6 monthly 14-day cycles of YNK-01 (500 mg/day), with progressive escalation if tolerated, in addition to IFN. Cytogenetic assessment was performed thereafter. RESULTS: Of the first 7 patients, 5 had severe hematologic and 5 moderate gastrointestinal toxicity; IFN was reduced in 6, YNK-01 in 5, and treatment discontinued in 2; hematologic response was achieved in 2 of the 5 evaluable patients. In the following 4 patients the Ara-C was reduced to 300 mg: 2 had severe hematologic and 2 moderate gastrointestinal toxicity; IFN and Ara-C were reduced in 2 patients and treatment discontinued in 2 due to progression or toxicity; the other 2 achieved a minor cytogenetic response, progressing in one to a major response after 6 more cycles. In 8 patients the starting Ara-C dose was 200 mg: 5 had moderate-severe hematologic and 5 mild gastrointestinal toxicity; IFN was reduced in 5, Ara-C in 1, and treatment discontinued in 1; Ara-C was increased in 7 cases; hematologic response was obtained in 4 patients, 2 of whom attained a minor and 1 a major cytogenetic response. INTERPRETATION AND CONCLUSIONS: These results provide background for future studies aimed at ascertaining the role of oral Ara-C combined with IFN or STI571 in newly diagnosed CML.

Adult↗
PubMedDate not supplied

Evaluation of minimal residual disease in patients with chronic myeloid leukaemia on IFN-alpha 2b therapy using conventional cytogenetics and fluorescence in situ hybridization.

BACKGROUND: Chronic myeloid leukaemia (CML) is a haematopoietic malignancy characterized by the presence of the Philadelphia (Ph) chromosome that results from balanced reciprocal translocation between chromosomes 9 and 22 leading to the formation of the bcr/abl fusion gene. Studies have shown that interferon-alpha (IFN-alpha) therapy induces both cytogenetic (reduction in Ph+ cells) and molecular response (reduction in the bcr/abl positive cells) in a large proportion of patients, thereby improving their prognosis and survival. There are no reports available from India on the clinical management of CML patients using IFN-alpha therapy and molecular methods for the evaluation of residual disease. We evaluated the efficacy of IFN-alpha 2b therapy bysequential cytogenetic and molecularanalysis. METHODS: Karyotypingwas done from G-banded metaphases obtained from 24-hour culture of bone marrow aspirates of 45 patients. Cytogenetic analysis was repeated at intervals of 4-6 months during the course of IFN-alpha therapy. Dual-colour fluorescence in situ hybridization (FISH) analysis using specific probes for bcr and abl genes was done to assess the molecular response. RESULTS: Eight patients achieved complete cytogenetic response with no Ph+ cells. Using FISH analysis, 4 of these patients were negative for the fusion gene implying a complete response, while the remaining 4 patients showed bcr/abl fusion signals that represent residual disease. CONCLUSION: Our study emphasizes the need for sequential cytogenetic and molecular analysis in the management of patients with CML and for the evaluation of minimal residual disease in patients on IFN-alpha therapy.

Adult↗
PubMed2002

[Detection of trisomy 8 and monosomy 7 in chronic granulocytic leukemia and myelodysplastic syndrome by cytogenetic analysis and fluorescence in situ hybridization].

INTRODUCTION AND AIMS: In this retrospective study the authors studied how interphase fluorescence in situ hybridization can be applied to the diagnosis of numerical chromosomal anomalies failed to be identified by cytogenetic analysis. METHODS: Thirty-four patients, 27 with chronic granulocytic leukemia and seven with myelodysplastic syndrome, were studied in order to identify disease-specific aberrations, trisomy 8 and monosomy 7 using both traditional cytogenetic analysis and fluorescence in situ hybridization on interphase bone marrow cells. Using alphoid-satellite centromeric specific probes, trisomy 8 indicating the progression of the disease and poor prognosis in chronic granulocytic leukemia as well as monosomy 7 in myelodysplastic syndrome were identified. RESULTS: In 21 of 34 cases both methods led to the same results. In 13 patients fluorescence in situ hybridization making possible to examine a great number of cells, provided more information about the gain and loss of chromosomes above and clarified uncertain cytogenetic results. CONCLUSIONS: In both hematological malignancies, studied by the authors, fluorescence in situ hybridization proved a useful and sensitive method to determine chromosomes unrecognized or not accurately identified by the traditional cytogenetic analysis and to define the ratio of pathological cells. At the same time the results confirm that conventional cytogenetic analysis is still essential in diagnosing the genetic alterations of malignant cells and point at the chromosomes that are worth further studying by other methods.

Adolescent↗
PubMedDate not supplied

Usefulness of cytogenetics in leukemias.

Present study consists of cytogenetic evaluation in 141 cases referred to our centre for various leukemias. This includes 110 cases of CML, 10 of ALL, 16 of AML (M3), 2 of AML(M2), 2 of MDS and 1 of CMML. The conventional cytogenetic study was carried out in all the cases using G Banding technique. Of the 141 patients studied, 17 patients showed secondary chromosomal alterations along with primary chromosomal alterations. In two patients of CML with secondary chromosomal alteration t(4:9:22), molecular cytogenetic technique (FISH) has been carried out which has confirmed the primary observations revealed by the conventional cytogenetic technique. Other secondary alterations were numerous and would have been missed if only FISH or PCR technique would have been used for diagnosis. We observed from our study that advanced molecular techniques like FISH and PCR cannot replace the conventional cytogenetic study but are useful as supportive and confirmative diagnostic tools.

Acute Disease↗
PubMed1992

[Contribution of a hematologic cytogenetic laboratory to the diagnosis, classification and prognosis of various hematologic malignancies].

The presence of an haematological cytogenetic laboratory into a clinical unit allowed to realize a close collaboration between clinicians and cytogeneticists, and to achieve a maximal exploitation of the results of the bone marrow cytogenetic studies in some haematological malignancies. It made it possible to perform sequential bone marrow karyotypes studies during the different phases of a disease: We could thus establish: The diagnostic value of cytogenetic findings for chronic myelocytic leukaemia, secondary acute leukaemia, but not for dysglobulinemias. The prognostic value of cytogenetic abnormalities in chronic myelocytic leukaemia where additional abnormalities to the Ph1 are a hallmark of blastic transformation; in primitive dysmyelopoiesis where they represent a bad prognostic factor; in dysglobulinemias, where they are a signal of terminal evolution. In all these diseases, only complex and multiple abnormalities have a prognostic significance pointing out the emergence of a malignant clone, where as rare and single abnormalities are of no significance. Nowadays, haematological cytogenetic must be bound to molecular biology.

Cytogenetics↗
PubMed2004

Trends in cytogenetic prenatal diagnosis in a reference hospital in Izmir/Turkey: a comparative study for four years.

The aim of the study was to investigate the major changes in the indications, culture success and abnormality rate for conventional cytogenetic prenatal diagnosis on amniotic fluid samples between the period of January 1998 and December 2001 in Izmir. The cytogenetic laboratory provides a prenatal service to obstetrics-gynecology departments of different hospitals in Izmir. A limited number of patients (6-8 per week) is randomly accepted for prenatal cytogenetic study. Over the 4 years period 1190 prenatal cytogenetic tests were performed in our center. The most common indication was advanced maternal age for each year. However its rate has increased significantly within the years (35.68% in 1998, 61.38% in 2001), while the rate of both triple test and ultrasound scanning indications decreased. Culture success rates have improved (97.97% in 1998, 99.74% in 2001). Comparing the first two years to the last two years the rate of abnormal cytogenetic results decreased significantly (3.83% in 1998-99, 2.48% in 2000-01). The major reason for this decrease is probably related to the changes in indications throughout the years.

Amniocentesis↗
PubMed2005

[Cytogenetic maps and their applications in plants].

Integrated cytogenetic maps encompass the information from both genetic maps and cytological maps. It is possible for cytogenetic maps to simultaneously report the cytological and genetic position of a maker. To constructure cytogenetic maps it is necessary to relate the markers mapped across linkage groups to cytological position on chromosomes. Cytogenetic maps have been constructured primarily in two ways. The first general strategy is to utilize the chromosome breakpoints to determine the location of genetically mapped markers on the chromosomes. A second way is by the direct hybridization of genetically mapped sequences onto chromosomes by FISH. In addition, a novel approach is to use RN-cM maps to predict the physical position of genetic markers on the chromosomes. Cytogenetic maps suggest that both the density of genes and the frequency of recombination increase towards the distal regions of chromosome arms, and they play significant roles in revealing gene colinearity between two species, exploring the evolution relationship between both of them and in map-based gene isolation.

Chromosome Mapping↗
PubMed2006

[A modified cytogenetic study for multiple myeloma].

OBJECTIVE: To evaluate the effect of modified culture method used to cytogenetic analysis and the clinically significance of chromosomal abnormalities to multiple myeloma (MM). METHODS: Mononuclear cells were isolated from bone marrow aspirate of 20 MM patients; and then cultured for 3 days without any cytokines, and 6 days in the presence of IL-6 (10 ng/mL) and GM-CSF (30 ng/mL) before RHG banding analysis; the remained part of aspirates were treated directly. Eight cases of iron deficiency anemia were taken as control. RESULTS: The experiment was failure in 2 cases because of blood clot, and another 2 cases could be analyzed only by direct method due to inadequate cells. The karyotype abnormalities were found from 4 cases of 16 available patients. Of them, three cases had complex karyotypes. The abnormalities were detected after 6 days culture with addition of cytokines. No abnormalities were detected from those groups of directly analysis and 3 day culture. Meantime, the clinical data showed that the patients with cytogenetic abnormalities were in stage III, and had a high percentage of MM cells (25%-56%) in their bone marrow, and also poor responses to prior chemotherapy. No cytogenetic abnormalities were found from control individuals in all groups. CONCLUSION: Extended culture in the presence of cytokines could improve the efficiency of cytogenetic analysis to MM. Complex karyotype was common cytogenetic abnormalities in MM patients with poor response to chemotherapy.

Aged↗
PubMed2006

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). It is characterized by pre and postnatal growth retardation, severe shortening of limbs with radial defects, oligodactyly and characteristic facial features. The present study reports 4 new cases of Roberts syndrome from 3 families presenting variable phenotypes. Patients were thoroughly investigated clinically and cytogenetically. By reviewing literature, we compared our cases to those previously reported. The rating severity system proposed by Van den Berg and Francke (30) was applied to correlate the phenotypic and cytogenetics changes. We observed more severe reduction defects in the upper limbs than in the lower limbs. While the main reduction defects in the upper limbs involved the thumb and radius ranging to phocomelia, absent or severely hypoplastic fibula was the main lower limb involvement. We emphasize this finding in the present investigation. Heterochromatin repulsion of chromosomes derived from Roberts syndrome patients is a characteristic cytogenetic abnormality. It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. This was proved recently by Vega et al. (31). Application of the clinical rating score and its correlation with cytogenetic changes showed negative results. Cytogenetic studies in normal obligatory heterozygotes parents showed no changes. Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian consanguineous families during one year in our department may indicate a high frequency of the Roberts syndrome allele among Egyptians. This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome.

Abnormalities, Multiple↗
PubMed1989

Evaluation of remission state in chronic myeloid leukemia patients after bone marrow transplantation using cytogenetic and molecular genetic approaches.

The remission state of 13 Philadelphia positive chronic myeloid leukemia patients was studied after bone marrow transplantation (BMT) by cytogenetic and Southern blot analysis of the breakpoint cluster region (BCR) gene. Eight of 13 patients showed neither clinical nor genetic evidence of residual disease. In two patients hematological relapse was confirmed by cytogenetic and molecular analysis. Evidence for residual leukemic cells in otherwise complete remission was obtained genetically in three patients. One of the latter cases revealed BCR rearrangement despite negative cytogenetic findings, while in another patient cytogenetic relapse was observed without demonstrable rearrangement within the major BCR. Our results may indicate that cytogenetic and molecular genetic methods complement rather than replace each other for the detection of residual CML cells after BMT.

Adolescent↗
PubMed1994

[Prenatal cytogenetic diagnosis of trisomy 21 using amniotic fluid cells].

BACKGROUND: Trisomy 21 is the most frequent chromosomal disorder which is associated with advanced maternal age. OBJECTIVES: The aim of our work was to examine the risk of trisomy 21 occurrence in a group of pregnant women subdued to prenatal cytogenetic examination. METHODS: The examined group consisted of 1128 pregnant women. The cells for cytogenetic analysis were obtained by means of transabdominal amniocentesis during the second trimester of pregnancy. Cultivation of amniocytes lasted 15-20 days. The chromosomes were stained by a conventional and G-striping method. RESULTS: Cytogenetic analyses have indicated that the aberrant karyotype was present in 32 (2.82%) out of 1128 fetuses. In addition the results have confirmed that trisomy represented the most frequent chromosomal aberration (60%) detected by means of prenatal cytogenetic diagnostic examinations and the risk of its incidence increased exponentially in women who were older than 35 years of age. CONCLUSIONS: The prenatal cytogenetic diagnosis represents a significant role in the prevention of hereditary conditioned chromosomal disorders. (Tab. 1, Fig. 1, Ref, 13.)

Amniocentesis↗