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PubMed2003

[Prenatal maternal blood screening for the detection of fetal chromosomal abnormalities: clinical importance of the rate of false positives].

Maternal serum screening to identify fetal aneuploidies is now routinely offered during the second trimester of pregnancy in developed countries. The purpose of this prospective study was to assess the value of maternal serum screening between 15 and 20 weeks of gestation to detect fetal aneuploidies and to determine the false positive rate (FPR). Blood samples were collected from 1,062 pregnant women between 15 and 20 weeks of gestation. Samples were assayed for alpha-fetoprotein (AFP), free beta human chorionic gonadotropin (beta-hCG) and unconjugated estriol (uE3). Medians were established at each week from 200 normal, singleton pregnancies. Second trimester risk was calculated using the maternal age and different combinations of AFP, beta-hCG and uE3. Screening results calculated by likelihood ratio to be equal to or greater than 1:270 were considered positive. If the gestational age was confirmed by ultrasonography, genetic counselling and amniocentesis were offered. Ten fetal chromosomal abnormalities were detected with maternal serum screening. Sample's size does not allow a correct detection rate estimation, but false positive rate (FPR) was found to be 6.5%. This FPR has a clinical application. At a cut-off of 1:270, second trimester screening best results were obtained using a combination of all three biochemical markers. These results confirm the efficacy of maternal serum screening for fetal chromosomal abnormalities with a low FPR. The measurement of AFP, beta-hCG and uE3 is an effective prenatal screening test.

Adult↗
PubMed1981

Association of specific chromosome abnormalities with type of acute leukemia and with patient age.

Complete data regarding age, sex, karyotype, and French-American-British Cooperative Group classification were available for 239 unselected patients with acute nonlymphocytic leukemia. Of these, 128 were classified as having acute myeloblastic leukemia (M1 or M2); within the acute myeloblastic leukemia group, 83 (65%) of the patients were chromosomally abnormal. Except for 16 patients with a t(8;21), the percentage of patients with an abnormal karyotype increased with age, particularly above the age of 50 years. Besides the patients with t(8;21), there were 29 patients with loss of part or all of chromosomes 5 and/or 7, 11 patients with +8, and 27 patients with other abnormalities. Of 70 patients with acute myelomonocytic leukemia (M4), on the other hand, 28 (40%) were chromosomally abnormal, only three had loss of chromosomes 5 or 7, one was -7, +8, and our were +8, whereas 20 had other abnormalities. This difference may reflect different etiological factors in these two types of leukemia.

Adolescent↗
PubMed1998

Chromosomal abnormalities in Hodgkin's disease are not restricted to Hodgkin/Reed-Sternberg cells.

Hodgkin and Reed-Sternberg cells are considered to represent the malignant fraction in Hodgkin's disease. Several studies have shown that the Hodgkin and Reed-Sternberg cells are chromosomally abnormal, but genetic data about the morphologically normal cell population in Hodgkin's disease are very limited. This latter cell population has therefore been examined for chromosomal aberrations, using the in situ hybridization (ISH) procedure, making use of DNA probes for chromosomes 1, 7, 8, 9, 11, 12, 15, 17, and 18. Nuclei were isolated from freshly frozen (10 cases) and paraffin-embedded (16 cases) biopsy samples and 1000 nuclei per case were evaluated. The cases of Hodgkin's disease were compared with reactive lymph nodes, which show aberrant chromosome copy numbers in less than 1 per cent of the cells. Using strict scoring criteria, nuclei in the tumour were found to show an abnormal genotype, in the range of 1-12 per cent, with trisomies occurring most frequently. No characteristic numerical chromosome abnormality was observed. ISH on 4 microns thick paraffin sections of six cases of Hodgkin's disease revealed numerical aberrations for chromosome 1 in cells which appeared to be morphologically normal. The genomically abnormal nuclei did not differ in morphology or size from the nuclei of morphologically normal cells, but differed considerably in size when compared with the nuclei of Hodgkin/Reed-Sternberg cells after the ISH procedure. Three of these six cases revealed a population of apparently normal cells with an aberrant copy number which differed notably from the fraction observed in reactive lymph nodes. It is concluded, therefore, that a subset of morphologically normal cells, next to the Hodgkin/Reed-Sternberg cells, are chromosomally aberrant and may participate in the malignant cell fraction of Hodgkin's disease.

Chromosome Aberrations↗
PubMed1994

Chromosomal abnormalities in fetuses with absent end-diastolic velocity in umbilical artery: analysis of risk factors for an abnormal karyotype.

OBJECTIVE: Our purpose was to evaluate the incidence and patterns of chromosomal abnormalities in fetuses with absent end-diastolic velocity in umbilical artery and to analyze maternal and fetal factors associated with abnormal karyotype. STUDY DESIGN: One hundred ninety-two fetuses of known karyotype with absent end-diastolic velocity in the umbilical artery at a gestational age > 20 weeks were considered. The following potential risk factors were analyzed in a multiple logistic regression model: maternal age, gravidity, parity, gestational age at diagnosis, presence of gestational hypertension and preeclampsia, presence of fetal malformations, different biometric measurements, head/abdominal circumference ratio, amniotic fluid volume, and several Doppler index values calculated from uterine arteries, fetal heart, and fetal peripheral arteries and veins. RESULTS: Sixteen cases had an abnormal karyotype. In two cases a triploidy was present, whereas the remaining 14 cases had autosomal aberrations. The risk factors statistically significantly and independently associated with the presence of an abnormal karyotype were maternal age > 35 years, gestational age at diagnosis < 27 weeks, presence of multiple malformations, and absence of gestational hypertension and preeclampsia. All the fetuses with an abnormal karyotype but one were correctly identified by at least one risk factor. CONCLUSIONS: An abnormal karyotype is present in 8.3% of fetuses with absent end-diastolic velocity in umbilical artery and is associated with maternal and fetal risk factors. The knowledge of these factors may be useful in the management of such fetuses.

Abnormalities, Multiple↗
PubMed2003

Baseline and treatment-induced chromosomal abnormalities in peripheral blood lymphocytes of Hodgkin's lymphoma patients.

PURPOSE: To study chromosomal abnormalities in 49 patients with Hodgkin's lymphoma (HL), before and after treatment and at several times during a 2-year period. METHODS AND MATERIALS: Simple chromosomal aberrations (CAs) and complex chromosomal rearrangements (CCRs) were counted in peripheral lymphocytes by painting of chromosomes 1, 3, and 4 (fluorescence in situ hybridization). A control population was composed of 20 healthy donors and 69 untreated cancer patients who had undergone various radiologic scans. RESULTS: A greater frequency (p < 10(-4)) of spontaneous cytogenetic abnormalities was observed in untreated HL patients compared with the control populations. CCRs were observed exclusively in the HL population (p < 10(-4)). Chemotherapy was associated with a significant increase in the frequency of CAs (p < 10(-4)), according to the chemotherapy regimen (p = 0.002). Immediately after radiotherapy, a significant increase (p < 10(-4)) was observed in CAs according to the size of the irradiation field. Conversely, the significant increases in the frequency of CCRs observed after treatment did not correlate with the chemotherapy regimens, radiotherapy dose, or size of the irradiation field. The evolution of CAs vs. CCRs over time was also dissociated: during the follow-up of these patients, a significant decrease was observed in the frequency of CAs at 6 months and 1 and 2 years. In contrast, after an initial decrease for up to 6 months after treatment, the frequency of CCRs remained constant for up to 2 years. CONCLUSION: Increased cytogenetic abnormalities were observed in untreated HL patients compared with the control populations. The greater frequency of cytogenetic abnormalities persisted in some patients. The presence of CCRs supports the concept of a unique genetic environment in HL patients that persists in response to potentially noxious treatments.

Adolescent↗
PubMed1999

Cyno-EBV (EBV-related herpesvirus from cynomolgus macaques) induces rabbit malignant lymphomas and their tumor cell lines frequently show specific chromosomal abnormalities.

Malignant lymphoma (ML) induction in rabbits by Epstein-Barr virus (EBV)-related herpesvirus of cynomolgus (Cyno-EBV) is reported. Twenty-seven of 30 (90%) rabbits inoculated intravenously with Cyno-EBV-producing simian (cynomolgus) lymphocyte cell line (Ts-B6) cells developed ML between 45 and 115 days after inoculation. The peroral inoculation of Ts-B6 cells induced ML in only 2 of 10 (20%) rabbits (75 to 85 days). Five of 6 (83%) rabbits injected with cell-free pellets from Ts-B6 cultures also developed ML (27 to 122 days). Antibody response to the viral capsid antigen of EBV was also detected in sera from rabbits inoculated with Ts-B6. ML of the large cell or mixed type infiltrated diffusely in many organs, frequently involving the spleen, liver, kidneys, heart, and less frequently the lungs, lymph nodes, brain, eyes, gastrointestinal tract, thymus, and bone marrow. A chromosomal analysis of five lymphoma cell lines established from tumor-bearing rabbits revealed the rabbit karyotype. Three of these cell lines showed the chromosomal abnormalities with 12q- or t (7p+:12q-). EBV-encoded small RNA-1 and EBV-associated nuclear antigen 1 were expressed in Ts-B6 cells, the tumor tissues, and all rabbit cell lines by in situ hybridization and by immunofluorescence tests, respectively. EBV DNA was also detected in Ts-B6 cells and rabbit lymphoma cell lines by polymerase chain reaction and Southern blot analysis. The Southern blots of EBV termini revealed oligoclonal bands in the Cyno-EBV-induced rabbit lymphomas. No lymphoma was induced by the inoculation of B95-8 (EBV-producing cells) or peripheral leukocytes from normal cynomolgus (controls). These data suggest that the high rate of lymphoma induction in rabbits may be caused not by human EBV (B95-8) but by Cyno-EBV from Ts-B6 cells. A sequence analysis of the IR1 (BamHIW) region of Cyno-EBV revealed that this region is quite similar to that of herpesvirus Macaca fascicularis 1, which is a causative agent for a monkey model of AIDS-related lymphomas. The present rabbit model of lymphoma with specific chromosomal abnormalities is very useful to clarify the role of EBV in human EBV-associated lymphoma and provides a means for studying prophylactic and therapeutic regimens.

Animals↗
PubMed1995

Chromosome abnormalities in benign hyperproliferative disorders of epithelial and stromal breast tissue.

Cytogenetic analysis of short-term cultures from 15 cases of benign proliferative breast disease (PBD), 10 diffuse PBD and 5 papillomas, and 15 fibroadenomas of the breast revealed clonal chromosome abnormalities in 7 diffuse PBD lesions, 4 papillomas and 5 fibroadenomas. The remaining 14 cases had a normal female chromosome complement. Cytogenetically unrelated abnormal clones were seen in 4 fibroadenomas and 2 PBDs. A single abnormal clone was found in 9 PBDs and 1 fibroadenoma. Three clonal abnormalities were seen as recurrent changes in 6 cases, namely interstitial deletions of 3p with 3p 12-14 as the minimally common deleted segment (in 1 papilloma, 1 diffuse PBD with atypia and 1 mixed-pattern lesion with both papilloma and atypical diffuse PBD features), r(9)(p24q34) (in 1 diffuse PBD and 1 fibroadenoma), and del(1)(q12)(again in 1 diffuse PBD and 1 fibroadenoma). Intriguingly, 6 of the 16 abnormal cases had chromosome changes that have been seen repeatedly as primary abnormalities in breast carcinomas: der(16)t(1;16)(q10;p10), del(3)(p12p14), and del(1)(q12). We conclude that some of the chromosome anomalies frequently found in breast carcinomas are also present in PBD and fibroadenomas. These aberrations may be accepted as early, neoplasia-relevant mutations. However, they do not seem to be sufficient by themselves to unleash a malignant process.

Breast↗
PubMed1987

Chromosomal abnormalities in lymphogranulomatosis X (LgrX)/angioimmunoblastic lymphadenopathy (AILD).

Histologically, lymphogranulomatosis X (LgrX) is a Morbus Hodgkin-like disease which until now has been considered as an abnormal immune reaction or a prelymphoma. Chromosome analyses showed that LgrX and angioimmunoblastic lymphadenopathy AILD) are characterized by chromosomal aberrations. Chromosome analyses of 18 cases of LgrX with sequential banding techniques showed abnormalities in 13 out of 18 cases. They were monoclonal in 7 cases. The most frequent abnormalities were trisomies of chromosomes Nos 3 and 5 and duplication of the X-chromosome. The abnormal karyotypes always appeared with normal mitosis in single or clonal cells. They were found in unstimulated and in PHA-stimulated cultures from lymph node and peripheral blood. Thus, it can be concluded that at least some cases of LgrX are monoclonal cell proliferations. An attempt is made to define the role of chromosomal abnormalities in the development of malignant lymphomas.

Aged↗
PubMed1990

[Myelodysplastic syndrome with complex chromosome abnormalities and peculiar fibril formation in granulocytes].

We report a case of myelodysplastic syndrome with peculiar fibril formation in granulocytes shown through electron microscope and complex karyotypic abnormalities including ring chromosomes. The patient, a 76-year-old male, was consulted for mild pancytopenia in February 1987. After 5 month, his hematological findings showed severe pancytopenia getting worse rapidly and presence of blasts in the peripheral blood. He had slightly hypercellular marrow with marked trilineage dysplasia and increased number of blasts (12.6%). Chromosome analysis from the bone marrow cells revealed its various structural abnormalities, especially in No. 3, 4, 5, 7, 11 with translocation on 11q11, and large ring chromosomes derived from unknown one. By electron microscopic study, we observed bizarre structures, which was peculiar fibril formation as bundles of filament resembling actin paracrystals, throughout cytoplasm as well as within nucleus in granulocytes.

Aged↗
PubMed2005

[Detection of fusion genes resulting from chromosome abnormalities in childhood acute lymphoblastic leukemia].

OBJECTIVE: To detect the expression of the fusion genes resulting from chromosome abnormalities in childhood acute lymphoblastic leukemia(ALL) and its conformity to WHO classification. METHODS: Sixty-two children with ALL were investigated. The expression of fusion genes was determined by multiplex reverse transcription-polymerase chain reaction (RT-PCR), karyotyping (R band) and immunophenotyping (by flow cytometry) were also performed. RESULTS: Of the 62 patients, 23(37.1%) were found to carry 13 different fusion genes. The patients with immunophenotype of Pre-B-ALL were found to carry: TEL/AML1(3 cases); E2A/PBX1, E2A/HLF, TLS/ERG, MLL/AF4, MLL/AF9, MLL/AF10, MLL/AFX-MLL/AF6-MLL/ELL, MLL/AF6-MLL/ELL, dupMLL (one case for each); and HOX11 (6 cases). The patients with immunophenotype of Pre-T-ALL were found to carry: TAL1D (4 cases, one is also found to have HOX11 expression); and HOX11 (2 cases). The multiplex RT-PCR in combination with chromosome analysis revealed genetic abnormalities in 69.4%(43/62) of childhood ALL. CONCLUSION: Multiplex RT-PCR combined with chromosome analysis and immunophenotyping can provide reliable and helpful information for the diagnosis, therapy evaluation and prognosis prediction in childhood ALL, which may also serve as a basis on which to implement the criteria of WHO classification.

Adolescent↗
PubMed1993

[Chromosomal abnormalities in Castleman's disease with high levels of serum interleukin-6].

Chromosomal abnormalities in Castleman's disease with high levels of serum IL-6 were reported. A 69-year-old male was found to have superficial lymph node swelling and polyclonal hypergammaglobulinemia, when he was admitted to the department of otolaryngology for carcinoma of the tongue in July 1991. In December, he was referred to our department after completing radiation therapy. Laboratory examination revealed 7.7 g/dl hemoglobin, 10.8 g/dl total protein, and 56.0% gamma-globulin. Serum electrophoresis revealed polyclonal hypergammaglobulinemia and no Bence-Jones protein. Bone marrow aspirates showed an increase of plasma cells to 21.8%. Serum IL-6 was 252 pg/ml. Chromosomal analysis of cells in the lymph node showed a karyotype of 46,XY,t(7;14)(p22;q22). The lymph node histology showed marked hyperplasia of plasma cells at interfollicular areas. These plasma cells were stained with both anti-kappa and anti-lambda antibody. He was diagnosed as multicentric form Castleman's disease. Treatment with prednisolone and melphalan resulted in improvement of clinical findings such as anemia, lymph node swelling and hypergammaglobulinemia in concurrence with decrease in serum levels of IL-6. Since the IL-6 gene is located on 7p21-22, the translocation 7; 14 may be related to the high level of serum IL-6.

Aged↗
PubMed2001

Neuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities.

This report presents data defining the neuropsychological and cognitive phenotypes of a group of adults with sex chromosome abnormalities identified at birth through the chromosome screening of 40,000 consecutive newborns between 1964 and 1974. In all three nonmosaic groups, reading skills were impaired and intelligence quotients were on average reduced more than 20 points relative to controls. The 47,XXX women demonstrated greatest overall impairment, including reduced scores on tests of conceptualization and problem solving. 45,X women demonstrated impairment in spatial thinking skills, and 47,XXY men in verbal processing skills. No reduced scores were found in the female mosaic group. Marked variability in scores was seen in all groups; some propositi have been unable to hold any job, whereas others have completed college and are professionally employed.

Adult↗
PubMed1980

The association of inflammatory bowel disease and X chromosomal abnormality.

Five patients with inflammatory bowel disease (IBD) had abnormalities of the X chromosome (the Turner syndrome). Based on the estimated prevalence rate of 1:10,000 live female births for the Turner syndrome and 1:50,000 for IBD, random association of these two conditions would be expected in 1:500 million live female births. Given these odds, the findings in these five patients would suggest a clinical association not based on pure chance and unlikely to be accounted for by Berkson's or other referral bias. It is speculated that abnormal immune mechanism could possibly increase the susceptibility of patients with Turner syndrome to develop IBD. Both conditions cause growth failure. Awareness of the association has clinical importance in identifying the cause of growth failure in a child with either X chromosomal abnormality or IBD.

Adolescent↗
PubMed1993

Inflammatory arthropathies in children with chromosomal abnormalities.

There are few observations of inflammatory synovitis in association with specific chromosomal abnormalities in children or adults. We review the genetic and rheumatic disease literature and describe the clinical, radiologic and pathologic features of a 14-year-old boy with trisomy 5q, terminal 2p deletion, developmental delay, and a 5-year course of a polyarticular, symmetrical arthropathy similar to juvenile rheumatoid arthritis. He was treated with multiple nonsteroidal antiinflammatory drugs, intramuscular gold, and oral methotrexate, but developed iridocyclitis, joint space narrowing with erosions, and multiple flexion contractures; disease progression slowed after addition of chlorambucil. The frequency and manner of association of genetic disorders with inflammatory arthropathies is presently unknown. Additionally, children with 2 major disabilities often require aggressive medical intervention to maximize their potential for adult independence.

Adolescent↗
PubMed1990

Chromosome abnormalities in malignant lymphoma in patients from Kurashiki: histological and immunophenotypic correlations.

Clonal chromosomal abnormalities were found in tumor tissue of 43 (84%) of 51 patients with non-Hodgkin's lymphoma (B-cell, 32; T-cell, 15) from an adult T-cell leukemia/lymphoma-nonendemic area in western mainland Japan. Four tumors were tetraploid, and the other 39 had a chromosome number in the diploid range. Trisomies 3, 5, 7, 18, and X, monosomy 13, and loss of an X in female and a Y in male were found in more than three patients each. Structural abnormalities in arms 1p, 1q, 2q, 3q, 13q, 14q, and 18q were found in eight or more patients each. Clustering of breaks occurred in 3q25-29 (ten patients, nine of whom with a B-cell tumor), 11q13 (five patients), dir dup(12)(q13-15----q21-24) (four patients), 14q32 (12 patients), and 18q21 (seven patients). The 14q32 translocations were all associated with B-cell tumors. t(8;14) was seen in a small noncleaved cell lymphoma, t(11;14)(q13;q32) in one follicular and three intermediately differentiated lymphocytic lymphomas, and t(14;18)(q32;q21) in two follicular lymphomas and one diffuse small cleaved cell tumor. The translocation partner of 14q could not be determined in the other four patients, three of whom had der(18)t(18;?)(q21;?). The seven 18q21 abnormalities, including a novel translocation t(2;18)(p11;q21.3), all occurred in B-cell tumors; even in the absence of t(14;18), they were closely associated with lymphomas of follicular center cell origin (six of seven).

Adolescent↗