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PubMed2005

Interphase molecular cytogenetic screening for chromosomal abnormalities of prognostic significance in childhood acute lymphoblastic leukaemia: a UK Cancer Cytogenetics Group Study.

Summary Interphase fluorescence in situ hybridization (iFISH) was used independently to reveal chromosomal abnormalities of prognostic importance in a large, consecutive series of children (n = 2367) with acute lymphoblastic leukaemia (ALL). The fusions, TEL/AML1 and BCR/ABL, and rearrangements of the MLL gene occurred at frequencies of 22% (n = 447/2027) (25% in B-lineage ALL), 2% (n = 43/2027) and 2% (n = 47/2016) respectively. There was considerable variation in iFISH signal patterns both between and within patient samples. The TEL/AML1 probe showed the highest incidence of variation (59%, n = 524/884), which included 38 (2%) patients with clustered, multiple copies of AML1. We were thus able to define amplification of AML1 as a new recurrent abnormality in ALL, associated with a poor prognosis. Amplification involving the ABL gene, a rare recurrent abnormality confined to T ALL patients, was identified for the first time. The use of centromeric probes revealed significant hidden high hyperdiploidy of 33% and 59%, respectively, in patients with normal (n = 21/64) or failed (n = 32/54) cytogenetic results. The iFISH contributed significantly to the high success rate of 91% (n = 2114/2323) and the remarkable abnormality detection rate of 89% (n = 1879/2114). This study highlights the importance of iFISH as a complementary tool to cytogenetics in routine screening for significant chromosomal abnormalities in ALL.

Adolescent↗
PubMed1987

Analysis of the chromosomal abnormalities of a woodchuck hepatocellular carcinoma-derived cell line (WH257GE10).

The normal woodchuck karyotype was determined by the G-banding technique, and the chromosomal abnormalities of a woodchuck hepatocellular carcinoma-derived cell line (WH257GE10) were analyzed and compared with it. The normal woodchuck karyotype was 38,XY in a male, and 38,XX in a female. Autosomes were classified into 2 groups (A and B). Group A consisted of 13 pairs (1-13) of metacentric or sub-metacentric chromosomes, and group B consisted of 5 pairs (14-18) of telocentric or sub-telocentric ones. The X chromosome was sub-metacentric, and the Y chromosome was telocentric. In WH257GE10, the modal number was 36. Deletion of one of the chromosome 5 pair, of the chromosome 13 pair, and of the Y chromosome was observed. Two marker chromosomes (M1 and M2) were found. These markers showed the same G-banded patterns except for a small chromosome fragment at the distal part of the long arm of M1. The chromosome aberrations were very stable through successive passages in vitro. These findings suggest that the chromosomal abnormalities found in WH257GE10 might be associated with the pathogenesis of woodchuck hepatocellular carcinoma.

Animals↗
PubMed2004

Analysis of chromosome abnormalities by comparative genomic hybridization in malignant peripheral primitive neuroectodermal tumor of the ovary.

OBJECTIVE: Malignant primitive neuroectodermal tumor (PNET) originating from the ovary rather than from the central nervous system is extremely rare. The aim of this study is to demonstrate the chromosomal abnormalities in a case of peripheral primitive neuroectodermal tumor (PPNET) arising from the ovary of a girl. METHODS: The 13-year-old girl underwent exploratory laparotomy because of a huge pelvic tumor in lower abdomen and pelvis. She underwent removal of ovaries, tubes, omentum, peritoneal nodules, and portion of urinary bladder. Tumor specimens were sent for pathology, short-term tissue culture, and for storage in deep freezer for laboratory studies. Immunohistochemical stainings of the tumor with antibodies against O-13 (MIC/CD99), NSE, GFAP, S-100, cytokeratin AE1/AE3, desmin, NF, and AFP were performed. Short-term cell culture of fresh tumor was done for analysis of chromosomal aberrations by the technique of comparative genomic hybridization (CGH). Names of specific genes corresponding to the losses or gains on gene map loci were identified from OMIM (Online Mendelian Inheritance in Man) of the NCBI website,. The overexpressions of N-myc and EGFR as well as underexpressions of Rb and ARHI were detected by RT-PCR analysis. The patient expired 17 months later despite of chemotherapy, repeated surgery, and radiation therapy. RESULT: The histopathology of the specimens revealed malignant neuroectodermal tumor, involving ovaries, tubes, bladder, omentum, and peritoneum. Immunohistochemical stainings of PPNET of the ovary showed positive reaction for O-13 (MIC2/CD99) and NSE, but negative for GFAP, S-100, cytokeratin AE1/AE3, desmin, NF, and AFP. Analysis of CGH revealed multiple chromosomal abnormalities including losses of chromosomes in 1p, 1q, 4q, 6p, 6q, 7q, 8q, 13q, and 19q; as well as gains of chromosomes in 1q, 2p, 7p, 9q, 18q, and Xq. Losses of 13q14.1-q14.2, 1p31, and 4q34-q35 indicated that Rb gene, ARHI, and FAT were deleted. Gains of 2p24.1, 1q23, and 7p12.3-p12.1 demonstrated that N-myc oncogene, FASL, GITRL, and EGFR were amplified. RT-PCR analysis showed that N-myc and EGFR were overexpressed, while Rb and ARHI were underexpressed. CONCLUSIONS: This report is the first to show multiple chromosomal aberrations in PPENT arising from the ovary. The deletions of Rb, ARHI, and FAT, as well as amplification of N-myc, FASL, GITRL, and EGFR, may be the crucial factors for tumorigenesis and the aggressive biological behavior of PPNET.

Adolescent↗
PubMed2004

Embryonic chromosomal abnormalities obtained after rescue intracytoplasmic sperm injection of 1-day-old unfertilized oocytes.

PURPOSE: To study if second day intracytoplasmic sperm injection (ICSI) results in chromosomal abnormalities in the embryos. METHODS: Rescue ICSI was performed on 14 metaphase II (MII) oocytes after unsuccessful conventional IVF, four were fertilized. Fluorescent in situ hybridization (FISH) was performed on these four embryos and was informative for three. RESULTS: There were two tetraploid embryos, one mosaic embryo with trisomy 21, tetrasomy 18, and tetrasomy for sex chromosomes in one cell and trisomy 22 in another cell. CONCLUSIONS: We discourage the use of second day ICSI due to the observed increase in chromosomal abnormalities in these embryos.

Adult↗
PubMed2001

Acute lymphoblastic leukemia accompanied by chromosomal abnormality of translocation (12;17).

This report concerns a female patient with B-precursor acute lymphoblastic leukemia with concomitant expression of CD13 and CD33. A rare chromosomal abnormality, t(2;17)(p13:q21), was detected in 70% of metaphases analyzed. A new subgroup of acute leukemia is proposed, consisting of our case and 12 reported cases with similar chromosomal abnormalities. This subgroup has a poor prognosis and a high incidence of biphenotypic characteristics.

Antigens, CD↗
PubMed2002

Chromosomal abnormalities: a potential quality issue for cloned cattle embryos.

Nuclear transfer in cattle is associated with high levels of embryonic mortality and often with congenital malformation. Chromosomal abnormalities are a well-known cause of pregnancy failure and congenital malformation in humans, but their relative contribution to pregnancy failure and congenital malformation in cloned embryos and calves is largely unknown. This paper reviews existing literature on the chromosomal constitution of bovine embryos produced by fertilization in vivo and in vitro, parthenogenetic activation, and nuclear transfer. The published data suggest that chromosomally abnormal cells are common in embryos; however, the frequency reported varies with the method of embryo production. The most frequently observed deviation from the diploid karyotype was mixoploidy resulting from aberrant cell division causing polyploidy in a variable proportion of the embryo's cells.

Animals↗
PubMed2003

Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements.

OBJECTIVES: Chromosomal rearrangements can lead to infertility or repeated spontaneous or induced abortions. The use of preimplantation genetic diagnosis (PGD) allows the selected transfer of chromosomally balanced embryos. The aim of this study was to carry out detailed analysis of the outcome of 11 PGD cycles for 8 patients carrying various chromosomal rearrangements. METHODS: Patients underwent routine in vitro fertilisation with biopsy of embryos on day 3. Specific fluorescent in situ hybridisation protocols were developed for each couple. Embryo transfer was possible in all 11 cycles. RESULTS: The outcome was four pregnancies, leading to three live births and one biochemical pregnancy. Post-zygotic mosaicism was detected in 75% of untransferred embryos, the majority of which were chaotic. Detailed follow-up and analysis provided evidence for the co-existence of chromosomally balanced and abnormal cells in six embryos. The mechanisms involved included chromosome breakage and loss of material. CONCLUSIONS: Biopsy and analysis of two blastomeres, where possible, reduced the risk of misdiagnosis in cases of balanced/aneuploid mosaics. The three live births achieved for the eight couples treated in this series, despite the poor history in almost all cases, is further proof that a policy of biopsying two cells from embryos consisting of six or more cells and a single cell from four- or five-cell embryos is compatible with a positive outcome.

Abortion, Spontaneous↗
PubMed2006

[Genetic analysis of translocation of chromosome t(4;9) in a child with rare chromosome abnormality].

A 10-month-old boy suspected of genetic abnormality was admitted for fever and coughing. Routine G-banding chromosome analysis of the peripheral blood lymphocytes and hereditary pattern analysis on the basis of the karyotypes and disease history revealed that the karyotype of the boy's mother was 46, XX,t(4;9)(q31;p24), and that of the boy was XY,der(9)t(4;9)(q31;p24)mat. The mother was identified as a carrier of balanced translocation of the chromosome who gave the abnormal chromosome 9 to her son, and she had only a chance of 1:18 to have a normal offspring. This case reiterates the importance of antemarital examination and prenatal diagnosis for preventing chromosomal diseases.

Abnormalities, Multiple↗
PubMed1999

[Fetal malformations and chromosome abnormalities diagnosed at the Center of Prenatal Diagnosis of the University of Aquila in the 1995-1998 triennium].

BACKGROUND: Over the past few years numerous techniques have been developed, allowing an evaluation of fetal physiopathology that was unthinkable until recently. The authors describe 20 cases of fetal malformations and chromosomal abnormalities diagnosed by scan and amniocentesis at the Centre for Diagnosis and Obstetric Prophylaxis at L'Aquila University. METHODS: Between January 1995 and April 1998 a total of 1180 amniocentesis and 4000 obstetric scans were performed in a group of 1650 pregnant women. RESULTS: Of the patients examined using ultrasound scan, 8 presented manifest fetal pathologies, of which 5 were associated with chromosome abnormalities: 1) left ventricular hypoplasia, common atrium, tricuspid dysplasia; 2) omphalocele; 3) Morgagni-Stewart-Morel syndrome; 4) plurilobate cystic hygroma; 5) duodenal atresia; 6) Dandy-Walker syndrome; 7) cystic hygroma and hydrops; 8) cystic hygroma, hydrops, cardiopathy and Dandy-Walker syndrome. Among the pregnant women undergoing amniocentesis without a prior diagnosis of fetal malformation, 12 presented pathological fetal karyotypes: 2 cases of Turner's syndrome; 2 cases of Edward's syndrome; 2 cases of Klinefelter's syndrome, of deletion of a stretch of chromosome 8; 1 case of Down's syndrome; 2 cases of supernumerary marker chromosome; 1 twin pregnancy with Klinefelter's syndrome in one twin and paracentric inversion of chromosome 13 in the other; 1 twin pregnancy with a small supernumerary marker chromosome in both twins. CONCLUSIONS: Ultrasonography often enables the diagnosis of congenital abnormalities not associated with chromosome pathologies. However, karyotype studies play an essential role in pregnancies with a high genetic risk.

Adult↗
PubMedDate not supplied

Chromosome abnormalities, cellular DNA content, oncogene amplification and growth pattern in agar culture of human neuroblastomas.

The association of ability to grow in vitro, non-random chromosome abnormalities, DNA ploidy and oncogene amplification with prognosis may lead to a better understanding of the biology of neuroblastomas. In a pilot study fresh tumour tissue was obtained from 4 consecutive patients at the Department of Paediatric Surgery, Rigshospitalet, Denmark. Chromosome abnormalities were detected in 3 out of 3 successfully karyotyped tumours, and one or more aneuploid stem lines were detected in 4 out of 4 tumours using flow cytometry. The N-myc oncogene was amplified in 1 out of 3 tumours tested. Continuous cell lines could be established from all 3 advanced stage tumours. This pilot study has shown that fresh tumour tissue can be obtained and successfully studied for various fundamental aspects of the biology of neuroblastomas.

Agar↗
PubMed2005

Lymphoma associated chromosomal abnormalities can easily be detected by FISH on tissue imprints. An underused diagnostic alternative.

BACKGROUND: Fluorescence in situ hybridisation (FISH) is useful for detecting specific chromosomal abnormalities in various tumours. In lymphomas, diagnosis is frequently made using paraffin wax embedded tissue. However, FISH performed under these conditions presents potential technical problems and difficulties in interpretation. AIMS: To show that FISH using tissue imprints and cytopreps or alternatively, bone marrow (BM) smears, constitutes an easy and rapid strategy to overcome these constraints. METHODS: The study comprised 46 patients with lymphoma. Sixty nine tissue imprints, cytopreps, or BM smears were analysed by FISH. Dual colour, dual fusion FISH probes were used to detect the t(8;14), t(11;14), and t(14;18) translocations, whereas a dual colour breakapart FISH probe was used to detect chromosomal translocations involving the BCL6 gene. RESULTS: Tissue imprints and cytopreps were successfully hybridised in all 52 cases, whereas hybridisation was successful in 16 of 17 archival BM smears. All patients could be analysed to identify either the presence or absence of chromosomal translocations. CONCLUSIONS: The use of tissue imprints, cytopreps, or BM smears to identify chromosomal abnormalities by FISH is a rapid and useful ancillary approach for diagnostic purposes. Therefore, it could be used on a routine basis whenever fresh samples are available.

Bone Marrow↗
PubMed1982

[Chromosome abnormalities in leukemia in children. Occurrence and clinical significance].

In the last decade, specific chromosomal abnormalities were found in leukemic cells in children, which had diagnostic or even prognostic significance. Adult type chronic myeloid leukemia is associated with the Philadelphia chromosome (Ph1, t(9;22)), acute myeloid leukemia with maturation with t(8;21), acute promyelocytic leukemia with t(15;17), (myelo)-monocytic leukemia with abnormalities of chromosome II, and acute monoblastic leukemia with t(9;11). B-cell acute lymphocyte leukemias are associated with a t(8;14) or some other t(8q); in the other forms of acute lymphocytic leukemias a t(4;11) or 6q- is sometimes found. The presence of a t(8;21) seems to be associated with a better prognosis. In lymphocytic leukemias the presence of 50 or more chromosomes seems to predict a favourable prognosis, while, on the contrary, the presence of any translocation indicates a grave prognosis.

Child↗
PubMed1991

Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy.

We have studied 20 children with therapy-related myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) who were 3 months to 16 years old at diagnosis of their primary neoplasm and 1 to 24 years old at diagnosis of their secondary neoplasm. The median interval from initial treatment for the first malignancy to diagnosis of therapy-related MDS or AML was 46 months (range, 12 to 116 months). Twelve patients had chromosomal abnormalities resulting in loss of material from the long arm of chromosomes 5 and/or 7, three patients had abnormalities of chromosome 11 band q23, one patient had both classes of abnormalities, three patients had other abnormalities, and one patient had a normal karyotype. Ten of 12 patients with chromosome 5 and/or 7 abnormalities had been exposed to an alkylating agent, and two of three patients with 11q23 abnormalities had been exposed to an epipodophyllotoxin. The patient with both classes of abnormalities had been exposed to both types of therapy. We conclude that abnormalities of chromosomes 5 and/or 7 are common in children with therapy-related MDS or AML. The proposed relationships between exposure to alkylating agents and abnormalities of chromosomes 5 and/or 7 and between exposure to epipodophyllotoxins and abnormalities of 11q23 are supported in this pediatric series.

Adolescent↗
PubMed1990

Chromosome abnormalities in squamous cell carcinoma of the human oral cavity.

Cytogenetic studies carried out in tissues of 75 patients with squamous cell carcinoma of the oral cavity gave satisfactory results in 12 cases. Remarkable variation characterized the modal chromosome numbers of these tumors, ranging from marked hypodiploidy to tetraploidy. Chromosomes which were lost belonged to group A whereas chromosomes which were gained belonged to groups C, D, E, F and G. Marker chromosomes were present in three cases. There was no correlation between the chromosome abnormalities observed and the clinical stages of the disease. The pattern of chromosome abnormalities ranging from marked hypodiploidy to tetraploidy observed in oral cancer tissues suggests an association of DNA oncogenic virus possibly Herpes simplex virus Type I (HSV-1) with oral cancer.

Adult↗
PubMed1991

Prenatal screening for chromosome abnormalities using maternal serum chorionic gonadotrophin, alpha-fetoprotein, and age.

Human chorionic gonadotrophin (hCG) levels were assayed retrospectively in stored maternal serum samples from 78 chromosomally abnormal pregnancies and 410 controls matched for gestation and maternal age. The median serum hCG concentration in 49 pregnancies with Down's syndrome was significantly elevated, at 2.18 multiples of the normal median. Significantly reduced hCG concentrations were found in a group of four trisomy 18 pregnancies (all less than 0.4 multiples of the median). Eight cases of unbalanced chromosome rearrangements appeared to show some lowering of hCG levels, while there was no significant difference in the levels in the cases of trisomy 13, balanced translocations, and sex chromosome abnormalities. Maternal serum hCG alone is a better indicator of Down's syndrome pregnancies than maternal age or maternal serum alpha-fetoprotein (AFP), either individually or in combination, and provides a further virtually independent measure of risk. On the basis of our findings, screening for Down's syndrome using hCG and AFP results combined with maternal age risks is predicted to result in a higher detection rate (57 per cent) for a lower false-positive rate (5.0 per cent) than would be attainable by combined AFP and age screening (37 per cent detection at a 6.6 per cent false-positive rate).

Chorionic Gonadotropin↗
PubMed1998

Fetal heart rate and nuchal translucency in detecting chromosomal abnormalities other than Down syndrome.

OBJECTIVE: To evaluate whether the combined use of fetal heart rate (FHR) and nuchal translucency measurements would be useful in the prediction of fetal chromosomal abnormalities at 10-13 weeks' gestation. METHODS: In a prospective study, 1053 (553 reported previously) consecutive singleton pregnancies between 10 and 13 weeks' gestation underwent chorionic villus sampling at our institution. Fetal heart rate and fetal nuchal translucency thickness were measured immediately before the invasive procedure. RESULTS: Thirty-five abnormal karyotypes were diagnosed, including 17 trisomy 21, seven trisomy 18, one trisomy 13, one trisomy 9, four unbalanced translocation, two Klinefelter syndrome, one Turner syndrome, one deletion of chromosome 18, and one true mosaicism. Using 95% of normal ranges as the cutoff for both measurements, the detection rate for all chromosomal anomalies was 77.1%, with a false-positive rate (1-specificity) of 7.7%, a positive predictive value of 25.7%, and a negative predictive value of 99.2%. Fetal heart rate improved the sensitivity of nuchal thickness in trisomies 21 and 18 (from 62.5% to 75%) and was particularly useful to detect other chromosomal anomalies (from 27.2% to 81.8%). CONCLUSION: Our findings suggest that there is an added role of FHR in ultrasound screening of chromosomal abnormalities, specifically for those other than trisomy 21 and 18. The value of a single measurement of fetal heart rate for screening purposes needs to be confirmed by further investigation in a low-risk population.

Adult↗
PubMed1998

[Clonal chromosome abnormalities in malignant hematological diseases using fluorescence in situ hybridization].

Fluorescent in situ hybridization (FISH) is a rapid, sensitive and reliable method for the identification of complete chromosomes, or segments of them, during metaphase or nuclear interphase. The present study shows the results of the analysis of 32 bone marrow aspirates from patients with malignant hematological diseases (11 AML, 7 ALL, 12 CML and 2 CLL), referred to the Medical Genetics Unit of the Faculty of Medicine, Zulia University, Maracaibo, Venezuela between 1994 and 1996. All samples were studied by conventional and molecular techniques (FISH), using probes of total chromosomes, alpha-satellites and locus specific. In patients with AML and ALL and FISH technique detected clonal chromosomal abnormalities, that were not found by the conventional cytogenetic technique. Furthermore, the PML-alpha RARA complex was identified in the promyelocytic acute leukemias. The presence of the molecular complex ABL-BCR was also demonstrated in CML. The present study demonstrates the usefulness of the FISH technique in the detection of clonal chromosomal abnormalities, which are important when considering the clinical care of patients with these pathologies.

Adolescent↗
PubMed2005

Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study.

PURPOSE: Despite advances in harvesting and culturing techniques, analysis of the impact of these improvements on the observed frequency of chromosomal abnormalities in spontaneous abortions (SAB) has not been determined. We sought to evaluate the effect of these refinements on the success rate of our cultures and on the resulting frequency of detected chromosomal abnormalities. METHODS: Between 1990 and 2002, 2301 specimens obtained from the products of conception (POC) of SABs were submitted to our laboratory for cytogenetic analysis. Due to refinements in specimen processing and culture techniques introduced at the end of 1997, our data were analyzed for two periods: Period A from 1990 through 1997 with 907 eligible specimens and Period B from 1998 through 2002 with 1273 eligible specimens. RESULTS: Modifications in physician communication and sample processing contributed to significant improvements in the culture success rate and in the ratio of male-to-female cases with normal karyotypes. Additionally, increased detection of trisomic, triploid, and multiple aneuploid cases in Period B resulted in a significant increase in the percentage of cases with abnormal karyotypes (42.8% in Period A vs. 65.8% in Period B). Monosomy X accounted for < 10% of all abnormalities in Period B. Eighty five multiple aneuploid karyotypes, including 57 double trisomies, comprised 7.7% of our 1099 abnormal cases. These karyotypes were detected predominantly in POCs from the older women in our study. This collection of multiple aneuploidies is the largest published to date and includes abnormalities not reported in prior studies. We also present a table empirically derived from the data in Period B that indicates the likelihood of a specific abnormal karyotype based on maternal age. The table can be utilized by health care providers, who counsel patients after a spontaneous miscarriage. CONCLUSION: Improvements in laboratory technique have led to reduced contamination and growth failure of POCs, irrespective of maternal age. This in turn has led to a more balanced male-to-female ratio and to the detection of an increased number of abnormal cases.

Abortion, Spontaneous↗