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PubMed1995

Evaluation of cytogenetic analysis for clinical preimplantation diagnosis.

OBJECTIVE: To evaluate the feasibility of using cytogenetic analysis in preimplantation diagnosis. DESIGN: Two different biopsy protocols (chemical drilling and zona cutting) and two fixation methods were tested in a mouse model. Afterwards, the efficiency of obtaining chromosome preparations from untransferable human embryos depending on the method used to obtain the blastomeres (embryos biopsy or removal of the zona pellucida and blastomere disaggregation) was determined. The chances of obtaining chromosome preparations depending on the type of embryo (haploid, diploid, triploid, and apparently unfertilized) were also evaluated. RESULTS: Results from the mouse model showed that chemical drilling yields better results than cutting in terms of metaphases per biopsied embryo and surviving rate after biopsy. In human embryos, biopsy of diploid embryos produced 46.6% chromosome preparations, while 29% were obtained after blastomere disaggregation and 20.4% when biopsying triploid embryos. CONCLUSIONS: These results suggest that the disaggregating procedure and triploid embryos cannot be considered as good models to assess the feasibility of cytogenetic analysis in preimplantation diagnosis. Poor chromosome quality and loss during fixation are the main problems to use cytogenetics in preimplantation diagnosis; a combination of cytogenetics and other techniques is suggested in cases of balanced translocations.

Animals↗

PubMed1983

Chromosomes and causation of human cancer and leukemia. LIII. Comprehensive cytogenetic analysis of an erythroleukemia.

A comprehensive cytogenetic analysis has been performed in a case of erythroleukemia (EL), M6 in the FAB classification. A bone marrow sample was shown to be characterized by an unusually high degree of polyploidy with the presence of a dominating hypotetraploid clone. G-banding analysis revealed extensive structural rearrangements involving chromosomes #1,#3,#12,#16,#17, and #21. The SCE frequency was higher in the cells of the dominant clone when compared to that of near-diploid, presumably nonmalignant cells. Cell cycle analysis revealed that the hypotetraploid cells progressed through the cell cycle much slower than did the near-diploid cells.

Aged↗

PubMed1989

Cytogenetic analysis of ten human seminomas.

A cytogenetic analysis of ten seminomas has been carried out after direct harvesting of the tumor cells. Modal chromosome numbers ranged from 63 to 112. These numbers were in agreement with flow cytometric determination of the DNA content of the tumors. Eight tumors had at least one copy of an i(12p) among other chromosomal abnormalities. Two seminomas lacked the i(12p).

Adult↗

PubMed2004

Cytogenetic analysis and occupational health in the Czech Republic.

This paper summarizes the experiences of the Czech Hygiene Service since the middle 1970s until the present time, using cytogenetic analysis as a biomarker of exposure. We have included a review of all the available scientific literature in Czech as well as in English, and have described the most important milestones in the history of the use of cytogenetic analysis in the Czech Republic. Details on the levels of occupational exposure and the corresponding observed frequencies of aberrant cells are provided. Furthermore, we discuss the interpretation of the cytogenetic findings in the context of occupational health and give several examples when the results of cytogenetic analysis provided the chief argument used to enforce improved working conditions and to establish safer maximum allowable concentrations.

Antineoplastic Agents↗

PubMed2001

A novel method for eliminating the melanin pigments from melanoma cells undergoing cytogenetic analysis in cases of uveal melanoma.

A method has been developed to eliminate melanin pigments from chromosomal plates of uveal melanoma tumors. On preparing the chromosomal plates of tumor masses of posterior uveal melanoma for cytogenetic analysis in intermediate pigmented population, it was found that the melanin pigments obscured the cells and thereby the chromosomes. Thus, cytogenetic analysis could not be carried out. Hence, a method was developed in our laboratory to eliminate these obscuring pigments. Several different attempts were made to eliminate the melanin pigments. Finally, washing the cells with phosphate buffered saline before the harvesting stage served the purpose. After harvesting and preparing the chromosomal plates, the cells were found to be devoid of melanin pigments. The protocol would help researchers trying to carry out cytogenetic analysis on melanoma tumor masses in populations with intermediate to dark pigmentation.

Cytogenetics↗

PubMed2001

Molecular cytogenetic analysis of a novel high-grade canine T-lymphoblastic lymphoma demonstrating co-expression of CD3 and CD79a cell markers.

We present the molecular cytogenetic analysis of a novel case of canine lymphoma, in a nine-year-old entire male collie cross retriever dog that presented with an enlarged prescapular lymph node. A diagnosis of high-grade lymphoblastic lymphoma was made by histological evaluation of fixed lymph node biopsy sections, whilst immunohistochemical analyses demonstrated co-expression of B- and T-cell antigens (CD79a and CD3) by 95% of lymphomatous cells. Comparative genomic hybridisation (CGH) analysis detected loss of dog chromosomes 11, 30 and 38 and gain of chromosome 36 within the lymphoma biopsy specimen. These findings correlated with direct cytogenetic analysis of tumour metaphases using whole chromosome paint probes representing each of these four chromosomes. This study represents the first report of the combined application of both direct and indirect cytogenetic techniques for the analysis of recurrent chromosome aberrations in canine cancer.

Animals↗

PubMed1995

The chromosome pattern of embryos derived from tripronuclear zygotes studied by cytogenetic analysis and fluorescence in situ hybridization.

OBJECTIVE: To detect the chromosomal complement of embryos, which developed from tripronuclear zygote, using nonradioactive centromeric probes. DESIGN: The chromosome pattern of embryos developing from tripronuclear zygote, studied by fluorescence in situ hybridization, was compared with that of embryos studied by standard cytogenetic methods. SETTING: These embryos were obtained from superovulated patients undergoing IVF treatment. RESULTS: We have attempted to examine the chromosomal complement of 72 embryos derived from tripronuclear zygotes using both traditional cytogenetic analysis and fluorescence in situ hybridization. Of these 72 embryos, 22 were analyzed with fluorescence in situ hybridization and 50 were analyzed with traditional cytogenetic analysis. For fluorescence in situ hybridization analysis, probes specific for the centromeric regions of chromosomes 1, 16, and X were used, with results being obtained from 18 embryos. One embryo was haploid (5.6%), five were triploid (27.8%), and one was hexaploid (5.6%). Eleven (61%) embryos were mosaic. Traditional cytogenetic analysis could be performed on 25 of 50 embryos. Five (20%) were haploid, one (4%) was diploid, seven (28%) were triploid, one (4%) were tetraploid, and two were hexaploid. Nine (36%) were mosaic. CONCLUSION: These findings indicate that not all tripronuclear human zygotes develop into triploid embryos. This study also demonstrates the usefulness of fluorescence in situ hybridization for preimplantation diagnosis and screening for chromosome abnormalities.

Cell Nucleus↗

PubMed2006

Report of novel chromosomal abnormalities in a series of 130 chronic lymphocytic leukemia patients studied by classic cytogenetic analysis.

One-hundred-and-thirty typical, unselected CLL cases were studied by conventional cytogenetic analysis. Seventy-three patients (56.2%) had normal karyotype ('normal sub-group'), while 57/130 patients (43.8%) had abnormal karyotype. Twenty-two of 57 patients (38.6%) carried more than one abnormality. Six novel chromosomal abnormalities were detected in five patients: (i) t(3;13)(q14;q34); (ii) t(Y;11)(q12;q23), del(13)(q12q14); (iii) dic(3;11)(p21;q23); (iv) t(3;5)(q29;q23); (v) t(3;22) (p21;q13); and (vi) t(1;13)(p12;q12). Three of five patients carrying novel translocations had progressive disease. The true biological and clinical significance of novel chromosomal abnormalities remains to be determined.

Aged↗

PubMed1992

Cytogenetic analysis in children with acute nonlymphocytic leukemia.

In this work we present the results of cytogenetic analysis of the malignant cells in 27 children with acute nonlymphocytic leukemia (ANLL). The aim of our investigations was to determine the frequency and types of chromosome aberrations in our population of children with ANLL. Successful cytogenetic analysis was carried out in 24 (89%) patients. Aberrant karyotypes of malignant cells were established in 58% of the cases. The most frequent chromosomal abnormality was t(8;21), identified in 5 (20.8%) patients, i.e., 4 of 10 M2-ANLL. Aberration frequency of chromosome 11 was 16.6% and was identified in 3 of 8 M5-ANLL. Trisomy 8 and monosomy 7 were identified in one patient each with M3 and M2-ANLL, respectively. del(13), a rare chromosome aberration in hemoblastoses, was found in a child with M1,t(8;21) and the loss of chromosome Y. Translocation t(1;11;21) with a break in regions 1q23, 11q23, and 21q22, is unusual and was identified in a boy with M2-ANLL; it can be considered as a variant form of the t(8;21).

Adolescent↗

PubMed1996

High incidence of the t(2;5)(p23;q35) translocation in anaplastic large cell lymphoma and its lack of detection in Hodgkin's disease. Comparison of cytogenetic analysis, reverse transcriptase-polymerase chain reaction, and P-80 immunostaining.

Fifty-six cases of anaplastic large cell lymphoma (ALCL), 23 cases of Hodgkin's disease, and 16 cases of diffuse large cell lymphoma were investigated for the t(2;5)(p23;q35) translocation. The translocation was detected by using cytogenetic analysis, reverse transcriptase-polymerase chain reaction (RT-PCR) and immunohistochemistry with P80 antibody directed against the kinase domain of anaplastic lymphoma kinase (ALK) of the chimeric NPM/ALK protein. In all but three cases of ALCL, we found an agreement between cytogenetic analysis, RT-PCR, and P80 staining. However, in one case, the t(2;5) translocation was detected with cytogenetic analysis, but RT-PCR and P80 staining were found to be negative. Conversely, in another case the karyotype was normal, but the hybrid mRNA and P80 staining were found to be positive. In one case, malignant cells showed a translocation involving chromosomes 1q25 and 2p23 and were strongly positive for P80 staining. Such a result could be expected because P80 antibody detects the kinase domaine of the ALK protein encoded by chromosome 2p23. Overall 73.2% (41 of 56) of cases were found to be positive. However, the highest percentage (23 of 26 cases; 88.5%) of P80 positive cases was found in children compared with 60% (18 of 30 cases) in adult ALCL (P < .05). In Hodgkin's disease, Reed-Sternberg cells were found to be clearly negative by RT-PCR and with P80 antibody. The latter results suggest that Hodgkin's disease and t(2;5)-positive ALCL are distinct biological entities and that the demonstration of the t(2;5) translocation is of diagnostic importance in differentiating these two entities. The results of the present study indicate that immunohistochemistry with P80 antibody is a reliable method for detecting NPM/ALK chimeric protein.

Adolescent↗

PubMed2005

Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).

OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q and partial monosomy 20q and a review of the literature. CASE AND METHODS: Obstetric ultrasound at 33 weeks' gestation revealed intrauterine growth restriction (IUGR) and dolichocephaly in a 27-year-old primigravid woman. Prenatal cytogenetic diagnosis was not offered because of the late stage of gestation. A 2800-g male baby was delivered at 41 weeks' gestation by cesarean section because of fetal distress. The infant postnatally presented characteristic craniofacial dysmorphism, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. Cytogenetic analysis revealed an additional material attached to the terminal region of chromosome 20q. The parental karyotypes were normal. Spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and polymorphic DNA markers were used to investigate the origin of the de novo aberrant chromosome. RESULTS: SKY using 24-color probes, FISH using specific 16p, 16q, 20 centromeric, and 20q telomeric probes, and polymorphic DNA marker analysis confirmed maternal origin of the duplication of distal 16q and the deletion of terminal 20q. Karyotype of the proband was designated as 46,XY.ish der(20)t(16;20)(q22.1;q13.3)(SKY+,16qTEL+,20qTEL-). CONCLUSIONS: Partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter) may be associated with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and genetic marker studies help in delineating the parental origin and the regions of the deletion and duplication in the de novo unbalanced translocation.

Abnormalities, Multiple↗

PubMed1980

Monitoring the occupational exposure to mutagens by the cytogenetic analysis of human peripheral lymphocytes in vivo.

Cytogenetic analysis of peripheral lymphocytes of workers occupationally exposed to mutagens appears to be a routinely acceptable technique to recommend as a biological indicator of genetic damage to somatic cells due to an overexposure to chemicals in the workplace. A scheme is suggested of genetic risk estimates in workers on the background of cytogenetically detected levels of aberrant cells.

Chromosome Aberrations↗

PubMed1996

[Significance, diagnosis and prognosis in the cytogenetic analysis in acute leukemias and myelodysplastic syndromes].

Cytogenetic analysis of leukemic cells has been shown to be a mandatory part of the diagnosis of malignant hemopathies. Recurring abnormalities may be divided into those exclusively found in myeloid disorders, those associated with lymphoid diseases and those detected in both types of hemopathy. Several of the common defects are characteristic of specific FAB types or subtypes and associated with clinico-pathologic manifestations. Cytogenetic abnormalities have served to identify relatively homogenous subsets of malignant hemopathies. In view of the significant progress realized in the treatment of malignant hemopathies, the assessment of prognostic factors is particularly important for therapeutic decision making. The chromosome status at diagnosis has proven to be a major prognostic indicator for survival and outcome in individual patients. This article will focus on the diagnostic and prognostic significance of the karyotype in de novo acute leukemia and primary myelodysplastic syndromes.

Acute Disease↗

PubMed2002

Molecular cytogenetic analysis of head and neck squamous cell carcinoma: By comparative genomic hybridization, spectral karyotyping, and expression array analysis.

BACKGROUND: A combination of molecular cytogenetic and expression array analysis has been performed on head and neck squamous cell carcinoma (HNSCC) of the oral cavity and supraglottis. These studies were performed to identify consensus regions of chromosomal imbalance and structural rearrangement to determine whether genes located in these genomic regions are subject to alterations in gene expression. Such combinatorial studies may help to identify recurrent patterns of altered gene expression in the context of specific chromosomal changes. METHODS: Comparative genomic hybridization (CGH) was used to identify net genomic imbalances and spectral karyotyping (SKY) to visualize the numerical and structural chromosomal changes in metaphase preparations. Expression microarray analysis of HNSCC cell lines and primary tongue tumors was also performed to identify genes that were commonly overexpressed or underexpressed compared with adjacent normal tissue. RESULTS: CGH detected gains at 3q (64%), 8q (45%) and 6q22-qter (45%) and losses at 18q22-qter (27%). SKY analysis of seven cell lines identified frequent structural rearrangement of the following chromosomal regions: 3q, 5p13-q11.2, 5q32-q34, 7p12-q11.2, 8p12-q12, 9p, 10p, 13p13-q12, 14q11.1-q11.2, 15p13-q11.2, 16p11.1-q11.1, 18q22-q23, and 22p13-q11.2. Consistent deregulation of interleukin 8, integrin alpha-6, c-MYC, epithelial discoidin domain receptor 1, and sterol regulatory element binding protein were apparent by expression analysis. Interestingly, some of these genes map to regions of genomic imbalance and chromosomal rearrangement as determined by our molecular cytogenetic analysis. CONCLUSIONS: In this small study, a combinatorial analysis using SKY, CGH, and microarray provides a model linking the changes in gene expression to changes in chromosomal dosage and structure. This approach has identified a subset of genetic changes that provide new opportunities for investigating the genetic basis of tumorigenesis in HNSCC.

Carcinoma, Squamous Cell↗

PubMed1991

Prognostic usefulness of cytogenetic analysis for haematological malignancies--two case reports on acute myeloid leukaemia.

Since the setup of marrow cytogenetic analysis at the National University Hospital (NUH) of Singapore in 1988, we have systematically examined all patients with haematological neoplasia for clonal abnormalities. In most patients, diagnosis was unequivocal on clinical and morphological grounds so that karyotyping was undertaken for prognostic purposes. Two patients are described who illustrate the prognostic implications of nonrandom chromosomal derangements. They highlight the increasing appreciation of the importance of cytogenetic analysis as an independent and reliable prognostic tool in the management of haematological malignancies.

Acute Disease↗

PubMed1995

Renal cell carcinoma. Cytogenetic analysis of tumors and cell lines.

Successful cytogenetic analysis was performed on 27 samples from 25 patients with RCC, including 7 of 11 tumors studied and 20 cell lines. Clonal chromosomal abnormalities were detected in all 27 samples. The most frequently involved chromosomes were 7, 1, 3, 9, and the Y (20, 17, 17, 14, and 10 cases, respectively). Polysomy 7 or rearrangement of 7q was seen in 80% (20/25) of the patients, and loss or rearrangement of 3p was seen in 48% (12/25); of the latter, four patients had loss of the whole chromosome and 10 patients had deletions or translocations involving 3p, with breakpoints at either 3p11-14 or 3p21-23 (5/7 translocation breakpoints were at 3p21-23). Loss of the sex chromosomes was seen in 15 patients, including -Y in 10/22 males. Other clonal changes included structural abnormalities of chromosome 1 centromere and the long arm, breakpoints at or near the centromere of chromosome 9 (10 patients), polysomy 16, monosomy 17, polysomy 20, and monosomy 22. With the exception of chromosome 3p loss, which was primarily confined to the nonpapillary cases, no specific clonal abnormality was noted for any particular subtype of RCC. Trisomy or tetrasomy 7 and -Y were seen in all subtypes of renal cell carcinoma.

Adult↗

PubMed1991

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.

Chromosome Banding↗

PubMedDate not supplied

Diagnosis of small non-cleaved cell lymphoma by fine needle aspiration utilizing cytomorphologic features combined with cytogenetic analysis.

OBJECTIVE: To determine the utility of cytogenetic studies in the diagnosis of small non-cleaved cell lymphoma by fine needle aspiration. STUDY DESIGN: Cases of suspected lymphoma were identified in a prospective fashion by an immediate examination of the fine needle aspirate material by the pathologist. In these instances, additional material was aspirated directly into RPMI 1640 medium for cytogenetic studies. RESULTS: Four cases of suspected small non-cleaved cell lymphoma were identified on fine needle aspirate material, and the diagnosis was confirmed in all cases by the presence of the characteristic (8;14) translocation or associated variant translocation in cytogenetic studies from the aspirated material. CONCLUSION: Cytogenetic analysis is useful as an additional ancillary technique applicable to fine needle aspiration material. In the case of suspected small non-cleaved cell lymphoma, the finding of a translocation (8;14) or associated variant translocation, along with the characteristic cytomorphology, allows a definitive diagnosis by fine needle aspiration and may alleviate the need for biopsy.

Aged↗