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PubMed1979

Banding studies of chromosomal abnormalities in patients with acute lymphocytic leukemia.

Karyotypes were analyzed by routine Giemsa and quinacrine fluorescence for 16 patients with acute lymphocytic leukemia [ten adults (18 to 51 years) and six children (3 to 15 years)]. Four patients had received previous therapy, but all 16 had active disease when they were first studied. Eight patients (five untreated) had a normal karyotype initially; however, three of these developed a chromosomal abnormality during relapse. Eight patients had a chromosomal abnormality in their initial samples. Each of the 11 patients had different abnormalities. All chromosomes except Nos. 3, 5, 15, 16, and Y were involved in the various aneuploidies. One patient had a Ph1 chromosome due to a translocation with No. 21: t(21;22)(q22;q11). A patient with B-cell acute lymphocytic leukemia had a 14q+ marker in addition to other abnormalities. The median survival of patients with initially normal karyotypes may be longer than that of patients whose karyotypes are abnormal initially.

Acute Disease↗

PubMed2005

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy.

While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n = 19); Angelman syndrome (n = 8); Prader-Willi syndrome (n = 4); 4p- syndrome (n = 3); 1q- syndrome (n = 2); 5p- syndrome (n = 2); Miller-Dieker syndrome (n = 2); 18q- syndrome; (n = 2); Klinefelter syndrome; (n = 2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.

Adolescent↗

PubMed1983

[Stereotyped chromosome abnormalities in human leukemia and lymphoma].

That chromosomal abnormalities in leukaemias and lymphomas are not non-randomly distributed has been demonstrated by banding techniques. Abnormalities characteristic of a given type of proliferation are described. The chromosomal breakpoints corresponding to these changes are located close to the sequences encoding for cellular oncogens (c-onc), which justifies the growing interest in the cytogenetic study of malignant cells.

Burkitt Lymphoma↗

PubMed2000

Chromosome abnormalities in 1255 cleavage-stage human embryos.

The relationship was examined between chromosome abnormalities in cleavage stage human embryos and maternal age, embryo morphology and development rate. Embryos that were classified as suboptimal for transfer from patients undergoing IVF treatment were disaggregated, and all or most of their cells were fixed for analysis by fluorescence in-situ hybridization. Chromosomes X, Y, 13, 18 and 21, and in some instances 16 were examined. A total of 731 non-viable embryos was analysed. An increase in chromosome abnormalities with decreasing embryo competence and increasing maternal age was shown. Compared with an earlier study, the major difference was that polyploidy (P<00.01) and aneuploidy were previously more common. After pooling results, it was found that aneuploidy increased with maternal age, from 3.1% in embryos from 20-34 years old patients to 17% in patients 40 years or older. Also, aneuploidy occurred more frequently in embryos with good morphology and development rate than in embryos developing poorly. In contrast, dysmorphic and slowly developing or arrested embryos had significantly more polyploidy and mosaicism than normally developing embryos. Clear associations between maternal age and aneuploidy, and between cleavage anomalies and mosaicism have been established in non-viable embryos. Arrested embryos were mostly polyploid. Moreover, polyploidy was found more frequently in embryos analysed on day 4, suggesting that developmentally compromised embryos became arrested in extended culture. A slightly higher aneuploidy rate in the earlier study may be attributed to differences in hormonal stimulation, which also resulted in different numbers of oocytes recruited and matured.

Journal Article↗

PubMed1987

Correlation of chromosome abnormalities with histologic and immunologic characteristics in non-Hodgkin's lymphoma and adult T cell leukemia-lymphoma. Fifth International Workshop on Chromosomes in Leukemia-Lymphoma.

To correlate cytogenetic findings with histology and immunophenotype, 260 newly diagnosed patients with non-Hodgkin's lymphoma (NHL) and 31 with adult T cell leukemia/lymphoma (ATL) were studied at the Fifth International Workshop on Chromosomes in Leukemia-Lymphoma. Clonal chromosome abnormalities were found in 85% of cases of NHL and in all cases of ATL. The most significant associations of histology with cytogenetics involved the 8q24 and 14;18 translocations. Of 23 NHL patients with an 8q24 translocation, 20 (87%) had small noncleaved cell (SNC) lymphoma. Of 57 NHL patients with a t(14;18)(q32;q21), 37 (65%) had a follicular lymphoma, and at least 13 others (23%) had a diffuse lymphoma of follicular center cell origin. Five others including two who also had an 8q24 translocation had SNC lymphoma; tumors in these patients lacked the monomorphic features seen in those with only an 8q24 translocation. The most striking associations of immunology with cytogenetics involved rearrangements of 14q11-13, abnormalities of 1p, trisomy 3, and trisomy 12. Abnormalities of 14q11-13 were correlated with T cell disease. Among 138 NHL and 24 ATL cases that lacked involvement of 8q24, t(14;18), or rearrangements of 14q11-13, abnormalities of 1p and trisomy 3 were significantly associated with the T cell phenotype (P less than .01) and trisomy 12 with the B cell phenotype (P less than .01). No karyotype difference was found between Japanese ATL and non-Japanese T cell lymphomas except that +3 occurred more often in the former (P = .06). Although the 8q24 translocations in 23 patients were distributed relatively equally among geographic regions (United States, ten; Europe, ten; Japan, three), the t(14;18) in 57 patients was much less frequently seen in Japan than in the other parts of the world (United States, 31; Europe, 21; Australia, four; Japan, one). Thirty-nine chromosome bands had breaks in five or more cases; a number of protooncogenes and genes related to lymphocyte function located in these bands are likely to be involved in the development of lymphoma. Thus, besides confirming the close association of particular chromosome abnormalities with histology, we have identified a number of new associations that merit molecular analysis.

Adolescent↗

PubMed1995

Detection of Y-chromosome sequences in patients with X-chromosome abnormalities.

The polymerase chain reaction was used to test 18 adults and eight fetuses with numerical or structural X-chromosome abnormalities for the presence of nine Y-specific loci. Y-chromosomal DNA was detectable in one adult patient with X-chromosome mosaicism. This study and previous reports provide evidence to support further screening of patients with X-chromosome abnormalities for the presence of Y-chromosomal DNA sequences. Long-term follow-up of patients with Y-chromosomal sequences is required to determine the risk of gonadal neoplasms and other abnormal phenotypes.

Adolescent↗

PubMed2000

Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers.

Robertsonian translocation t(13q14q) is studied in sperm and embryos of two couples undergoing preimplantation genetic diagnosis (PGD) in which both males are carriers of the translocation. It is already known that the chances of achieving pregnancy for a translocation carrier are directly linked to the number of normal or balanced embryos available for replacement. In our work it was found that the frequency of balanced spermatozoa was almost identical in both patients (74 and 77%), and after PGD, the frequencies of abnormal embryos caused by the translocation were also similar. Sperm chromosome analysis in translocation carriers can provide a reasonable basis for estimating a baseline of chromosome abnormalities to be found in embryos during an assisted reproductive cycle. However, individual factors not linked to the translocation can also produce other chromosome abnormalities (mosaicism, haploidy, polyploidy) and may compromise the chances of achieving a viable pregnancy.

Adult↗

PubMed1978

Clinical implications of chromosome abnormalities in acute non-lymphocytic leukemia: current status.

Data currently available on banded chromosome studies on patients with ANLL suggest that the presence of a chromosome abnormality in such patients indicates a poor prognosis, and that different treatment strategies need to be developed for these patients. However, patients with at least one normal metaphase survive nearly as long as those with only normal metaphases. A specific chromosome abnormality in APL [t(15;17)], an unusual association of a translocation [t(8;21)] in association with loss of a sex chromosome, and a rare association of thrombocytosis and a chromosome insertion (3;3 ins), suggest that some chromosome changes in ANLL are specific.

Acute Disease↗

PubMed1981

Tumorigenicity of chromosomally abnormal human cultured cells in two xenogenic organ culture assays.

Organ cultures of chick and rabbit embryonic skin were used to assess the tumorigenicity of cultured human cell lines. Cell lines were from patients with (1) specific chromosomal abnormalities and an increased risk of cancer (Down's syndrome, Klinefelter's syndrome, Partial D Trisomy, Bloom's syndrome, Franconi's anemia, ataxia telangiectasia and xeroderma pigmentosum); (2) a specific chromosomal abnormality but no increased risk for cancer (Cri du chat), and (3) a biochemical defect (galactosemia). In addition, tumor cell lines and cell lines of normal origin were used as positive and negative standards. Mitotic ability was quantified by dividing the total number of mitoses in the cell inoculum seen in histologic sections by the number of sections examined to give a computed mean number of mitoses per section (MMS). Neoplastic cell lines showed MMS values greater than 1.0 while cell lines of normal origin were less than 0.25. The cell lines derived from patients with chromosomal abnormalities and the patient with a biochemical defect, whether the individuals were at an increased risk for cancer or not, gave the same range of MMS values as obtained for cells of normal origin. These results that chromosomal aberrations per se do not enhance the cell's capability for proliferation on a xenogenic substrate.

Animals↗

PubMed2006

In vitro culture conditions favoring selection of chromosomal abnormalities in human ES cells.

Previous studies in several laboratories have demonstrated inadvertent chromosomal abnormalities in long-term cultured human embryonic stem cells (HESC). Here, using a two-step selection process we report a functional adaptation of a HESC line, HS181, towards a decreased dependence of extra cellular matrix (ECM) for in vitro survival, that is for growth directly onto a plastic surface. Successful adaptation was paralleled with a karyotype change in 100% of the cells to 47,XX,del(7)(q11.2),+i(12)(p10). The resulting adapted population showed increased survival and growth on plastic and also maintained expression of HESC markers, but showed a decreased pluripotency, as demonstrated by results from embryoid body (EB) formation in vitro. The finding of reduced pluripotency may not be totally unexpected since the variant cells were selected for self-renewal and proliferation, not differentiation during the adaptation to growth on plastic. In the light of recent models of a germ cell origin of HESC it is of particular interest that similar to many of the reported spontaneous HESC mutants, one of the identified specific chromosome abnormalities, i(12p), has also been strongly implicated for human germ cell cancer. However, the mutated HESC variant carrying this mutation failed to grow as a xeno-graft in a mouse model in vivo. This is surprising and needs a further mechanistic analysis for its explanation. Increased knowledge of genetic integrity of HESC may have significance on the understanding of mechanisms for tumor progression and thus strategy for treatments, particularly for tumors occurring in early life.

Animals↗

PubMed1991

Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.

Chromosome Aberrations↗

PubMed2002

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes.

OBJECTIVE: The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome. STUDY DESIGN: A retrospective case-control study was conducted. In a cohort of 170,394 women who underwent maternal serum triple screening in Ontario, Canada, between October 1995 and September 1998, 189 women received positive screening results for both Down syndrome and neural tube defects. Each case was matched to 5 control subjects who had negative screening results for test center, maternal age, and specimen date. The risks for adverse perinatal outcomes were compared. RESULTS: Women with double-positive screening results had significantly higher risks of having fetuses with structural abnormalities (odds ratio, 14.5) and chromosomal anomalies (odds ratio, 36.3). They also had higher risks of having preeclampsia (odds ratio, 6.7), small-for-gestational age (odds ratio, 9.7), preterm delivery (odds ratio, 5.9), miscarriage, and intrauterine fetal death (odds ratio, 11.8). CONCLUSION: Double-positive maternal serum screening results are associated with fetal structural and chromosomal abnormalities and/or adverse pregnancy outcomes. Close fetal and maternal surveillance are indicated when such pregnancies are identified.

Case-Control Studies↗

PubMed1995

Risk of chromosomal abnormalities, with emphasis on live-born offspring of young mothers.

In a large public urban hospital obstetrics service with > 123,000 deliveries in a 10-year period (1980-89), the frequencies (0.12%) of any type of chromosomal abnormality and of trisomy syndromes were analyzed for maternal age-related risk, by logistic regression. Focusing on very young gravidas, we found that in the study period there were 9,332 births (7.5% of all deliveries) to mothers < or = 16 years old. Estimated risks of chromosomal abnormalities among offspring associated with very young maternal age (9-16 years) were similar to those age-associated risks of mothers 20-29 years old. Risks of chromosomal abnormalities increase with advancing maternal age and are independent of ethnicity.

Adolescent↗

PubMed1997

Increased frequency of chromosome abnormalities in fibroblasts from hairy cell leukemia patients.

A hereditary component is implicated in many different cancers, including hairy cell leukemia (HCL), and may involve an instability of the genome. We have previously documented recurrent clonal and non-clonal chromosomal abnormalities in hairy cells. To ascertain whether this instability of the genome is restricted to the malignant cells or if it might also include normal cells we performed cytogenetic investigations on skin fibroblasts and hairy cells from eight HCL patients and skin fibroblasts from eight referents. The frequency of chromosome abnormalities, regardless of clonality, was significantly increased in the fibroblasts from patients compared to referents. Also, five patients compared to one referent showed clonal abnormalities in their fibroblasts. Immunohistochemical investigations excluded the possibility that the fibroblast cultures were contaminated with hairy cells. Two patients had constitutional abnormalities, inv(5)(p13.1q13.3) and t(13;14), and one additional patient, possibly mosaic, showed the same abnormality, inv(9)(p21-22q22), in both fibroblasts (17/30) and blood (5/21) cells. Aberrations in patient fibroblasts also included sporadic inv(5), del(6)q, inv(19), and del(20)q, abnormalities previously shown to occur in hairy cells. A clonal expansion with trisomy 7 occurred in vitro as documented by fluorescence in situ hybridization (FISH). The only clonal abnormality occurring in a referent was -Y/-Y,+15 in an elderly male. In conclusion, a constitutional chromosomal instability may precede chromosome abnormalities and be of importance in the development of hairy cell leukemia.

Adult↗

PubMed2000

Chromosomal abnormalities in women with breast cancer after autologous stem cell transplantation are infrequent and may not predict development of therapy-related leukemia or myelodysplastic syndrome.

We determined prospectively the incidence of chromosomal abnormalities in patients with high-risk breast cancer (HRBC) after high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT), and correlated the cytogenetic abnormalities with the development of post-transplant myelodysplastic syndrome or acute myeloid leukemia (MDS/AML). From 1990 to 1999, 229 women with HRBC underwent ASCT. Cytogenetic analysis of bone marrow (BM) cells was performed 12-59 months after ASCT in 60 consecutive women uniformly treated with six courses of FAC/FEC followed by HDCT and ASCT. With a median follow-up of 36 months after ASCT, there were no cases of MDS/AML among the 229 patients. In the selected cohort of 60 patients, three (5%) showed clonal chromosomal abnormalities (two single trisomy X and one t(1;6)), whereas two additional patients showed non-clonal reciprocal translocations. Two of the patients with clonal aberrations had blood cytopenias as well as subtle dysplastic pictures in BM which were not classifiable as MDS according to the FAB criteria. Similar dysplastic features were also observed in four patients with normal karyotypes. All cytogenetic aberrations were transient and disappeared, except a +X detected by FISH in a residual cell population in one of the patients. Retrospective cytogenetic and FISH studies of samples obtained after six cycles of FAC/FEC and before transplant demonstrated no chromosomal abnormalities in any of the five patients with post-ASCT karyotypic changes. Early changes in karyotype detected in breast cancer patients following ASCT are transient and do not correlate with or predict development of MDS/AML. As these aberrations were not present before ASCT, they may be related to the HDCT regimen or transplant procedure rather than to the prior adjuvant therapy. Our results suggest that ASCT may be less likely to cause MDS or AML in breast cancer patients as compared to other malignancies. Bone Marrow Transplantation (2000) 25, 1203-1208.

Adult↗

PubMed2006

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man.

We report the parental origin, and where possible the chromosomal origin of 115 de novo unbalanced structural chromosome abnormalities detectable by light microscopy. These consisted of 39 terminal deletions, 35 interstitial deletions, 8 rings, 12 duplications and 21 unbalanced translocations. In all categories the majority of abnormalities were of paternal origin, although the proportions varied from a high of 84% in the interstitial deletions and rings to a low of 58% in the duplications. Among the interstitial deletions and duplications, there were approximately equal numbers of intra- and interchromosomal abnormalities, while the majority of unbalanced translocations were isodisomic for the duplicated chromosome. The examination of the parental ages in the four main classes of abnormality showed terminal deletions of maternal origin to be associated with a significantly reduced maternal age. Thus, there is a clear propensity for structural chromosome abnormalities to occur in male germ cells, although the chromosomal origin seems similar irrespective of the parental origin.

Chromosome Aberrations↗

PubMed1999

Multiple chromosomal abnormalities in fulminant anaplastic myeloma.

We describe a 58-year-old woman with anaplastic multiple myeloma and multiple chromosomal abnormalities. Her karyotype showed extreme hyperploidy with 77 chromosomes. Some of the aberrations were typical of multiple myeloma (+3, +5, +15, +19, +21, t(11;14)(q13;q32)), others were characteristic of the aggressive anaplastic myeloma (+8), t(11;14)(q13;q32), while three chromosomal abnormalities (t(11;20)(p11;q13); t(4;7)(q31;q11); and t(14;20)(q24;q13)) have not been, to the best of our knowledge, described previously in the literature. The fulminant course of the disease confirms the poor prognosis of multiple karyotypic abnormalities in myeloma.

Chromosome Aberrations↗

PubMed2007

Chromosome abnormalities in advanced stage lymphoblastic lymphoma of children and adolescents: a report from CCG-E08.

Among pediatric non-Hodgkin lymphomas, one of the most frequent types is lymphoblastic lymphoma (LBL). Specific chromosome abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia, but have not been evaluated for prognostic value in pediatric LBL. For the Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, 13 patients were enrolled with cytogenetic analysis of LBL and on treatment protocol CCG-502. Pathology material and karyotypes at initial diagnosis were given central review. The patients were aged 6-13 years (median 9 years), with a male-to-female ratio of 12:1. All patients had advanced disease. Disease relapsed in six patients (event-free survival 54% +/- 14%, median 10.8 years). Chromosome abnormalities were identified in 11 (85%), and translocations at 14q11.2 likely involving the T-cell receptor alpha/delta locus (TCR A/D) occurred in 4 (31%). For patients with relapse, four had translocations t(1;14)(p32;q11.2), t(8;14)(q24.1;q11.2), t(11;14)(p13;q11.2), or t(9;17)(q34;q23), involving breakpoints in the regions of TAL1, MYC, LMO2, and NOTCH1, respectively. Pediatric advanced LBLs have a high frequency of chromosome abnormalities; in this limited study, these often involved translocations at 14q11.2, the site of TCR A/D. Translocations possibly involving TAL1, MYC, LMO2, or NOTCH1 may have contributed to poor outcome. Further studies are warranted in larger cohorts of children and adolescents with LBL to evaluate the prognostic significance.

Adolescent↗