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At least 1,531 records · Page 85Linked to original sources
PubMed2002

Balanced chromosome abnormalities inv(16) and t(15;17) in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.

The Workshop identified 48 unselected patients with therapy-related myelodysplastic syndrome or acute myeloid leukemia (t-MDS/t-AML) and inv(16), and 41 patients with t(15;17) after chemotherapy (CT) and/or radiotherapy (RT) for a malignant or nonmalignant disease. The primary diseases were: breast cancer, 33 patients; lymphomas, 24 patients; various other solid tumors, 30 patients; and nonmalignant diseases, 2 patients. The general type of previous therapy was RT only in 10 patients with an inv(16) and in 12 patients with a t(15;17), alkylating agents plus topoisomerase II inhibitors in 24 patients with an inv(16) and in 18 patients with a t(15;17), topoisomerase II inhibitors only in 5 patients with an inv(16) and in 2 patients with a t(15;17), alkylating agents only in 6 patients in each subgroup, and other types of chemotherapy in 3 patients in each subgroup. Most CT-treated patients (69%) also received RT. The latency period to development of t-MDS/t-AML was short: a median of 22 months in patients with inv(16) and 29 months in patients with t(15;17). Twenty-six patients (54%) with an inv(16) and 17 patients (41%) with a t(15;17) had additional cytogenetic abnormalities, which were unrelated to age and survival in both subgroups. Trisomy of chromosomes 8, 21, and 22 and del(7q) were the most frequent additional abnormalities in the inv(16) subgroup, whereas +8, -5, and del(16q) were most frequent in the t(15;17) subgroup. The disease was overt t-AML in 38/48 patients (79%) with an inv(16) and in 38/41 patients (93%) with a t(15;17). Thirty-three of 39 intensively treated patients (85%) with an inv(16) obtained a complete remission, whereas 24 of 35 intensively treated patients (69%) with a t(15;17) obtained a complete remission. The median overall survival of intensively treated patients was 29 months in both cytogenetic subgroups. In the inv(16) subgroup, patients younger than 55 years of age had a longer survival when compared with older patients (P = 0.006). The study supports the observation that t-MDS/t-AML with inv(16) and t(15;17) is often associated with prior therapy with topoisomerase II inhibitors; however, a notable finding was the high frequency of treatment with only radiotherapy, 29% of t(15;17) and 21% of inv(16). Response rates to intensive chemotherapy in this study were comparable to those of de novo disease.

Adolescent↗
PubMed1992

INT1 and GLI genes are not rearranged or amplified in benign pleomorphic adenomas with chromosome abnormalities of 12q13-15.

A subgroup of pleomorphic adenomas of the salivary glands is characterized by translocations involving chromosome 12, with consistent breakpoints at 12q13-15. Two proto-oncogenes, INT1 and GLI, have been assigned to this region of chromosome 12. We studied the possible involvement of these genes in pleomorphic adenomas with different karyotypic abnormalities, including cases with involvement of 12q13-15. Using detailed restriction fragment analysis of tumor DNAs from 25 cases, we found no evidence of rearrangement or amplification of INT1 or GLI. Because we previously found an adenoma with a del(12)(q13q15), we also analyzed normal and tumor DNAs from the 25 tumors separately to identify possible allelic losses at the GLI locus. Thirteen of the 25 tumors were informative, and none of these showed evidence of allelic losses. Collectively, these findings indicate that neither the INT1 nor the GLI gene appears to be the primary target gene for the translocations and deletions involving the 12q13-15 region in pleomorphic adenomas.

Adenoma, Pleomorphic↗
PubMed1984

Isochromosome 6p, a unique chromosomal abnormality in retinoblastoma: verification by standard staining techniques, new densitometric methods, and somatic cell hybridization.

Study of chromosome rearrangements in retinoblastoma tumors revealed that all tumors contained either an unusual isochromosome and/or extra copies of chromosome 1q. Extra copies of chromosome 1q occur in many malignancies. The pattern of G-bands suggested that the isochromosome was derived from either the short arm of chromosome 6, i(6p), or the long arm of chromosome 17, i(17q). Standard staining techniques using G-, C-, Q-, and R-banding; high resolution G-banding; and density profile analysis were consistent with the characteristic isochromosome of retinoblastoma being i(6p), rather than i(17q). This conclusion was substantiated by the analysis of segregants derived from retinoblastoma X mouse hybrid cells which had been grown in bromodeoxyuridine to select for loss of chromosome 17. The unique isochromosome was not lost under these conditions confirming that it is an i(6p) rather than an i(17q). The i(6p) abnormality has not been observed frequently in other tumors, but occurs in 60% of retinoblastoma tumors. Thus, although the mutation predisposing to retinoblastoma is known to map at 13q14, somatic amplification of genes on 1q and 6p may play a role in the pathogenesis of this tumor.

Animals↗
PubMed1996

Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.

A number of human telomeres have been successfully cloned using a modified yeast artificial chromosome (YAC) vector (half-YAC) cloning strategy, but to date, human chromosome 22q has not been identified by this approach. We used an alternative approach of genomic walking, starting from a subtelomeric sequence, Tel-Bam3.4. present on a number of human chromosomes including 22q. This approach was successful in the development of a cosmid contig representing the terminal 140 kb of human chromosome 22q, providing telomeric closure of the genetic and physical maps for 22q. The most distal region of the contig contains subtelomeric repeats which crosshybridize to a number of chromosomes, while the proximal sequences are unique for 22q. The unique sequence cosmid was used as a 22qter-specific probe for fluorescence in situ hybridization (FISH) analysis, which confirmed that this cosmid was distal to the most telomeric marker previously available for chromosome 22. In addition, this cosmid was used to document a 22q terminal deletion that was not detectable by conventional cytogenetic analysis. Unique telomere-specific FISH probes such as this one will have significant diagnostic value in the detection of cryptic deletions and translocations in patients with unexplained mental retardation and other patient populations.

Cerebroside-Sulfatase↗
PubMed2001

What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study.

OBJECTIVE: To investigate how the prenatal diagnosis of a sex chromosome anomaly is first communicated to parents. DESIGN: Health professionals were interviewed by telephone and the conversation was taped; parents were sent questionnaires at 1 month after diagnosis and those who responded were sent another at 6 months. PARTICIPANTS: 29 health professionals who had recently informed parents that a sex chromosome anomaly had been identified in an apparently anatomically normal, viable fetus. 23 mothers and partners who had been informed of such a diagnosis. MAIN OUTCOME MEASURES: Health professionals' knowledge about sex chromosome anomalies and parents' responses to information provided by health professionals. RESULTS: Analysis of the telephone interviews identified great variation in what different healthcare professionals know, think, and say about the same sex chromosome anomaly. The small numbers and the low response rate for the questionnaire (39% for women and 30% for men) meant that statistical analysis was not appropriate. CONCLUSIONS: It is essential for obstetric units to have an established protocol for giving results and for all staff who communicate results to parents to have accurate, up to date information about the condition identified.

Adult↗
PubMed1991

Chromosome abnormalities in peripheral blood cells of hepatitis B virus chronic carriers.

Cytogenetic analysis of metaphase chromosome spreads from peripheral blood cells of hepatitis B virus (HBV) chronic carriers and HBV-negative individuals of the same ethnic origin revealed a significantly higher incidence of chromosome breaks and other mitotic aberrations in the HBV chronic carriers. The highest incidence of chromosome breaks was found in chronic carriers who evidenced circulating HBV. Such an association between HBV and these genetic lesions assumes importance in light of the known correlation between HBV chronic carrier status and the high risk of hepatocellular carcinogenesis, where a mutagenic effect of HBV cannot be excluded.

Carcinoma, Hepatocellular↗
PubMed1979

Prenatal diagnosis of chromosomal abnormalities and neural tube defects.

We have reviewed the current status of prenatal diagnosis for chromosomal indications and for neural tube defects. The number of pregnancies monitored will increase as greater resources become available and as public education about genetics increases. The methodology has proved to be a powerful means of preventing the birth of individuals with significant genetic defects, thereby sparing both parents and society from the burdens produced by such disorders. In the future, it is likely to be even more effective.

Amniocentesis↗
PubMed1977

Chromosomal abnormality in congenital rubella.

An infant with congenital rubella was found to have two extra chromosome fragements in most cells examined. This is an unusual finding in congenital rubella and it is suggested that it may be related to the infection.

Adult↗
PubMed1993

Clonal karyotypic evolution in an embryonal rhabdomyosarcoma with trisomy 8 as the primary chromosomal abnormality.

An embryonal rhabdomyosarcoma was analyzed cytogenetically. In primary cultures fed a serum-containing medium, 11 clones with karyotypic abnormalities were found. One had trisomy 8 only. The other 10 clones had trisomy 8 as well as additional evolutionary changes that included trisomy for part or all of chromosome 2, isochromosomes for the short and long arms of chromosome 11, isochromosomes for the long arm of chromosome 8, and extra copies of chromosome 8, some of which had an interstitial deletion in 8q. In those primary cultures that had grown in a chemically defined, serum-free medium and in all passaged cultures, trisomy 8 was the only aberration. Our findings and a survey of published information point to gain of one chromosome 8 as a frequent primary karyotypic abnormality in embryonal rhabdomyosarcomas. Trisomy for part or all of chromosomes 2 and 11 and additional gains of chromosome 8 material seem to be common secondary changes.

Abdominal Neoplasms↗
PubMedDate not supplied

Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue.

Trisomy 7, trisomy 10 and loss of the Y chromosome have been found by some authors in presumptive normal parts of human kidneys. We describe cytogenetic findings in short-term cultures from 58 biopsies obtained from non-neoplastic and neoplastic (renal cell carcinoma, RCC) tissues from the same kidney, the same types of tissues from independent kidneys, and tissue from kidneys without neoplasia. The results indicate the following. Non-neoplastic tissue from kidneys involved in RCC have (in mosaics) trisomies 5, 7, 10, 18 and loss of the Y as non-random clonal changes. They are not the result of local metastasis but are also found in kidneys with non-tumoral chronic pathologies and should thus not be considered specific for RCC. They are neither culturing artefacts nor a general phenomenon found in cultured normal solid tissues, but are acquired abnormalities, possibly related to various reactive cellular states in the tissues that are histologically normal.

Adult↗
PubMed1990

Chromosome abnormalities in cancer.

Karyotypic abnormalities have been described in more than 10,000 human neoplasms analyzed by means of chromosome banding. These aberrations are of three different kinds: primary abnormalities, which are essential in establishing the tumor; secondary abnormalities, which develop only after the neoplasm is established but which nevertheless may be important in tumor progression; and cytogenetic noise, which is the background level of nonconsequential aberrations. These latter changes are, in contrast to the primary and secondary aberrations, randomly distributed throughout the genome. The primary abnormalities, of which more than 100 have been identified, are strictly correlated with particular neoplastic disorders and even with histopathological subgroups within a given tumor type. To these purely cytogenetic data implicating specific genetic changes in carcinogenesis may now be added the growing evidence of molecular specificity emerging from recombinant DNA studies. It appears that both currently known classes of directly cancer-relevant genes, the dominant oncogenes and the recessive anti-oncogenes, are located at precisely those genomic sites that are visibly involved in neoplasia-associated chromosomal rearrangements. The molecular genetic data thus support the cytogenetic conclusion that the distribution of consistently cancer-associated breakpoints reflects the genomic position of genes that, either directly or through the control function they exert, are essential in the proliferation and differentiation of human cells.

Chromosome Aberrations↗
PubMed1998

[Successful treatment with idarubicin in a pediatric case of t(8;21) acute myelogenous leukemia with additional chromosomal abnormalities at relapse].

A 9-year old boy was admitted to our hospital due to a relapse of acute myelogenous leukemia (AML). A chromosomal analysis at the time of relapse revealed abnormalities in addition to 45, X,-Y, t(8;21) (q22;q22) when AML was first diagnosed. The patient was given granulocyte-colony stimulating factor (G-CSF), cytosine arabinoside (Ara-C) and aclarubicin (CAG therapy), but this treatment regimen was not effective. He was next treated with G-CSF (started 3 days prior to the administration of anticancer drugs), Ara-C, (200 mg/mm2 for 7 days), Etoposide (VP.16, 150 mg/mm2 for 5 days) and Idarubicin (8 mg/mm2 for 5 days) according to the modified Japan Cooperative Protocol ANLL 91 for children. Although his condition had been septic and he had experienced renal and respiratory failure, he achieved a complete remission after 140 days without additional therapy. The patient returned to a condition of health and received a bone marrow transplant from an unrelated donor. We concluded that this treatment regimen is effective for the relapse of AML in children.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1987

Prenatal diagnosis of chromosomal abnormalities from chorionic biopsy samples: improved success rate using a modified direct method.

Several methods for fetal chromosome analysis using chorionic biopsy samples were compared. A modified direct method for culturing villi was considered to be the method of choice and details are presented of 186 pregnancies tested prenatally. The success rate in obtaining a fetal karyotype with the direct method was 93 per cent. The fetal loss rate in the prenatal series was 4.3 per cent and congenital abnormalities in the babies already born did not differ from the expected incidence.

Adult↗
PubMed1990

Chorionic chromosome abnormalities and intrauterine growth retardation.

Chorion, placental membranes, and embryo all arise from the same fertilized oocyte; therefore, chorionic cells are presumed to reflect fetal chromosome status. Progenitor cells of the embryo are selected from the blastocyst, however, at a very early stage of development. If mitotic nondisjunction were to occur in one of the blastocyst cells destined to become trophoblast, the resultant abnormal cell line would be restricted to extraembryonic tissues. Indeed, chromosome mosaicism confined to the placenta has been found repeatedly in diagnostic chorionic villus sampling, and occasionally in third trimester placentas. Cytogenetically abnormal placental cells are morphologically and perhaps functionally abnormal. Such aberrations might result in deficient oxygen or nutrient supply to the fetus, causing intrauterine growth retardation (IUGR). To investigate this hypothesis we studied chorion and cord blood samples after delivery from 11 confirmed IUGR pregnancies. A minimum of 10 cells were analyzed from each cord blood and chorion specimen (mean number of cells from cord blood = 27; from chorion = 17). None of the cases showed true mosaicism for a hyperdiploid line. We conclude from this preliminary study that few, if any, cases of IUGR are likely to be due to chorionic mosaicism.

Adult↗
PubMed1998

Incidence of sex chromosome abnormalities in spermatozoa from patients entering an IVF or ICSI protocol.

OBJECTIVE: The objective of this study was the determination of sex chromosome aneuploidy frequency in spermatozoa from patients included in an in vitro fertilization (IVF) or intra cytoplasmic sperm injection (ICSI) protocol. METHODS: Spermatozoa from nineteen patients, including patients with normal seminal parameters according to World Health Organization (WHO) criteria and patients exhibiting abnormal seminal parameters, were analyzed by dual color fluorescence in situ hybridization (FISH) for aneuploidies of the X and Y chromosomes. Our technique, using only probes for sex chromosomes and not for autosomes, does not discriminate between hyperhaploid and diploid sperm nuclei. The results were analyzed in two different ways: in relation to the semen status, denoted normal or abnormal and with regard to the ability of the sperm to fertilize oocytes when IVF or ICSI was performed. RESULTS: Abnormal semen showed a significant increase in the overall rate of sperm nuclei with XY, XX and YY sex chromosome complements, 1.59% compared to normal semen, 0.78% (p<0.02). Semen shown to be able to fertilize oocytes only by ICSI showed a higher incidence of XY-bearing spermatozoa, 1.26%, compared to semen able to fertilize oocytes by conventional IVF, 0.37% (p<0.001). The incidence of XX-or YY-bearing sperm nuclei was also significantly elevated in the ICSI group (0.25% XX, 0.50% YY) (p<0.02) as compared to the IVF group (0.06% XX, 0.16% YY). CONCLUSIONS: We concluded that infertile men requiring ICSI treatment showed a higher incidence of sex chromosome aneuploidy, due to meiosis I and II nondisjunction, in their spermatozoa as compared to men requiring IVF for reasons of predominantly female infertility.

Aneuploidy↗