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PubMed1995

Embryo morphology, developmental rates, and maternal age are correlated with chromosome abnormalities.

OBJECTIVE: To determine some of the unresolved questions related to chromosome anomalies in early human embryos, such are the detection of any advanced maternal age effect; the complete assessment of mosaicism, which requires analysis of all cells; and the relationship with embryonic dysmorphism. Fluorescence in situ hybridization has been used in this study to answer these issues. DESIGN: Fluorescence in situ hybridization analysis of human embryos using simultaneously probes for three or five chromosomes. Five hundred twenty-four cleavage-stage human embryos obtained by IVF were analyzed by fluorescence in situ hybridization. Embryos were allocated into three groups according to morphological and developmental characteristics (arrested; slow and/or fragmented; morphologically and developmentally normal). The embryos also were analyzed according to maternal age. RESULTS: Dysmorphic embryos had higher rates of polyploidy and diploid mosaicism. Aneuploidy increased with maternal age in nonarrested embryos. Preimplantation genetic diagnosis successfully detected these abnormalities. CONCLUSION: This study demonstrates that, in morphologically and developmentally normal human embryos, cleavage-stage aneuploidy significantly increases with maternal age. The results suggest that implantation failure in older women largely could be due to aneuploidy.

Adult↗
PubMed1994

Clonal chromosome abnormalities in 54 cases of ovarian carcinoma.

As a prelude to assessing the relationship of chromosome alterations to clinical outcome in ovarian carcinoma, we report on the cytogenetic analysis on short-term cultures from 54 patients. All patients had histopathologically confirmed malignancy, with the majority of cases demonstrating serous ovarian adenocarcinomas. Structural alterations were evident in 52 cases, whereas numeric changes were identified in 13 cases. The most notable numeric abnormalities were loss of the X-chromosome (9/13 total cases) and +7 (3/9 diploid cases). Structural alterations most frequently involved chromosomes 1, 3, 6, 7, 11, and 12. Chromosomal breakpoints were shown to cluster in several chromosomal banding regions, including 1p36, 1p11-q21, 3p23-p10, 7p (especially 7p22), 11p, 11q, 12p13-q12, and 12q24. The frequency of structural alterations involving the following chromosome arms was found to be significantly increased: 1p (p < 0.01), 7p (p < 0.01), 11p (p < 0.01), 11q (p < 0.05), and 12p (p < 0.05). An analysis of the net gain or loss of chromosome segments was also performed, with the most consistent tendency observed being over-representation of 1q and chromosome 7, deletion of 1p, and loss of the X chromosome.

Adult↗
PubMed1987

Characteristic patterns of chromosome abnormalities in acute myeloid leukemia with Auer rods.

Two hundred and four cytogenetically investigated patients with acute myeloid leukemia (AML) were evaluated for the presence (AR+) or absence (AR-) of Auer rods. Chromosome analysis was successful in 187 patients (92%). Seventy-eight patients (38%) were AR+. Cytogenetic abnormalities were detected in 35 (49%) AR+ patients and in 66 (57%) AR- patients. The proportion of patients with complex karyotypic changes (more than two aberrations) was significantly higher in the AR- group (p less than 0.01). Also, unidentifiable marker chromosomes were significantly more frequent in the AR- group (p less than 0.01). Twenty-one of 23 AR+, but none of 46 AR- patients with structural changes, had involvement of 21q22, 17q11-12, or 11p13-15. In contrast, structural changes of 1p, 5q, 7q, 9q, 11q, or 22q were present in 31 AR- but in only two AR+ patients. Four patients had translocations involving 21q22 without rearrangements of 8q22. All were AR+, but only one displayed M2 morphology. We draw the conclusion that chromosomal changes affecting 21q22 might be primarily related to AR formation, whereas, changes of 8q22 produce the characteristic differentiation pattern leading to M2 morphology, consistently found in AML with t(8;21)(q22;q22). With regard to numerical abnormalities, -7 and +8 occurred about equally often in the two groups, whereas, +11 and -Y, especially when present as the sole aberrations, were predominantly found in AR+ patients. In contrast, -5 and +21 were exclusively found in AR- patients. The results indicate that AR+ AML is characterized by a relatively limited number of chromosomal abnormalities that are different from the aberrations found in AR- patients. This feature has not been emphasized in previous studies correlating hematologic and cytogenetic findings in AML.

Bone Marrow↗
PubMed1972

Chromosome abnormalities in chronic active hepatitis.

An investigation on human peripheral blood lymphocyte chromosomes in chronic active hepatitis was carried out. A higher percentage of chromatid and chromosome lesions was recorded in all patients studied as compared with control groups-normal individuals, healthy subjects who had suffered from acute viral hepatitis, patients with alcoholic liver disease, and patients with mechanical jaundice due to cancer. The possible origin of these abnormalities is discussed.

Adult↗
PubMed1998

Chromosomal abnormalities of a new nasopharyngeal carcinoma cell line (NPC-BM1) derived from a bone marrow metastatic lesion.

An epithelial cell line, NPC-BM1, was established from a bone marrow biopsy of a female Taiwanese patient with nasopharyngeal carcinoma (NPC). Histopathology of the bone marrow biopsy and xenografts grown in severe combined immunodeficiency mice showed that the tumor was a nonkeratinizing, poorly differentiated carcinoma. NPC-BM1 cells grown as monolayers had a doubling time of 28.5 hours. Chromosome analysis showed that NPC-BM1 had the following features: 1) hypotetraploidy with a modal chromosome number of 87 (84-90); 2) numerically and structurally normal chromosomes 18; 3) numerical abnormalities without apparent structural alterations on chromosomes 14, 16, 17, 19, and 20; 4) ten structural abnormalities, t(1;9)(p11;q11), t(3;?;4)(p13;?;q13), add(4p),del(6p), i(8) [corrected] (q10),der(?)t(?;12),(?;p12),[corrected] add(21)(p11), del(X)(q24), add(X)(q22), and marker 1 (M1), in all metaphases examined, which were found to be present in two to five cell lines from primary NPC tumors reported previously; and 5) four other abnormalities, t(2;?;2)(p11.2;?;q21),t(11;22)(q11;q11),i(22)(q10), and marker 2 (M2), unique to this metastatic cell line. To the best of our knowledge, NPC-BM1 is the first NPC cell line derived from a distant metastatic site. Further evaluation of this cell line and additional metastatic NPC cell lines as well as primary NPC cell lines with respect to relations between the timing, karyotypic anomalies, and immunobiological characteristics in NPC progression and metastasis is warranted.

Adult↗
PubMed1992

Chorionic villus sampling and selective termination of a chromosomally abnormal fetus in a triplet pregnancy.

Transabdominal chorionic villus sampling (CVS) was performed on a patient with a triplet pregnancy. The karyotypes were as follows: 46,XX; 46,XY; and 46,XY/47,XXY. Selective termination was done on the affected fetus successfully by intrathoracic potassium chloride (KCl) injection. Amniocentesis which was performed at the same time confirmed the CVS results, showing the same mosaic findings. Following the procedure, the pregnancy proceeded uneventfully and two normal newborns were delivered at term.

Abortion, Therapeutic↗
PubMed1987

Clonal chromosome abnormalities in chronic lymphocytic leukemia patients revealed by TPA stimulation of whole blood cultures.

Cells from 52 patients with chronic lymphocytic leukemia and two patients with prolymphocytic leukemia were stimulated in whole blood or bone marrow culture with the polyclonal B-cell mitogen tetradecanoyl phorbol acetate (TPA). Stimulation was successful in 50 of the 54 cases. Comparison with Epstein-Barr virus and pokeweed mitogen showed them to be much less successful mitogens under the conditions used. Twenty-one patients (39%) were found to have clonal abnormalities that were probably disease-related. The most common abnormality was trisomy 12 (five patients). Four patients had a deletion of the long arm of chromosome #11 and one patient had a t(11;14). Five patients had abnormalities of the long arm of chromosome #13, with four probably having breaks in band q14. Two patients were seen with trisomy 3 as the only abnormality. Overall, the results were similar to those of other groups, which shows that considerable karyotypic information can be obtained from the use of a single mitogen on a large series of chronic lymphocytic leukemia patients.

Aged↗
PubMed1991

Chromosome abnormalities in human cancer and leukemia.

The meaning and application of chromosomal (cytogenetic, karyotypic) changes in human leukemia and cancer have been succinctly reviewed in this article. Thus, the usefulness of these changes in the diagnosis, classification and prognosis of various leukemic conditions and, more recently, of solid tumors is stressed and their application to molecular studies indicated. The meaning of primary (specific) and additional (secondary) karyotypic changes in malignant and benign tumors is discussed. Tables containing the common cytogenetic changes in leukemias and tumors, including benign ones, are included.

Chromosome Aberrations↗
PubMed1986

An evaluation of maternal cell contamination in cultures of chorionic villi for the prenatal diagnosis of chromosome abnormalities.

Culture of chorionic villus cells provides a method of obtaining chromosomes of excellent quality for first trimester prenatal diagnosis. Concern exists that maternal cells present in the biopsy may contaminate the culture and lead to misdiagnosis. This study has confirmed that karyotypes obtained from female villus cultures were non-maternal by establishing the presence of paternal markers using Q- and C-banding. Male cultures were harvested serially to investigate the possibility of maternal cell overgrowth. Of 82 successful cultures investigated, 37 were male and 45 female and of the males 4 contained a mixture of male and female cells. Thorough dissection of the material is essential if maternal cell contamination is to be mininimised. The use of heteromorphic chromosome markers to establish that fetal cells have grown provides valuable reassurance.

Cells, Cultured↗
PubMed1962

The chromosome abnormality in mongolism.

In an examination of our present knowledge regarding chromosome anomalies in mongolism the anomalies of trisomy-21 (the commonest anomaly in association with mongolism), 13-15/21 translocation and 21-22/21 translocation were illustrated and discussed. The relatively uncommon chromosome translocations and chromosome mosaicisms found in association with mongolism have especial clinical importance. Translocation of either type may occur as an isolated finding in a mongoloid patient. However, the translocation chromosome is frequently also found in one of the phenotypically normal parents. This is associated with an increased incidence of mongolism in the offspring, though the actual risk figure is uncertain in view of the small number of families described to date. The occurrence of chromosome mosaicism in mongolism may be associated with incomplete manifestation of the syndrome, and the ultimate mental development in such patients has varied from normal to severely retarded in cases described in the literature.

Chromosome Aberrations↗
PubMed1988

Chromosome abnormalities and karyotypic evolution in 83 patients with myelodysplastic syndrome and predictive value for prognosis.

In a chromosome study of 83 patients with myelodysplastic syndrome (MDS), 50 showed a clonally abnormal karyotype. The most frequent abnormalities were the whole or a partial loss of the long arm of chromosome 7 (-7 or 7q-) (14 patients) and a partial loss of the long arm of chromosome 5 (5q-) (11 patients). Twenty patients with 5q- and/or -7 or 7q- had a shorter survival (median, 5 months) than those with other abnormal karyotypes (22 months) or those with a normal karyotype (28 months). In this series 30 patients were examined cytogenetically on two or more occasions during the course of their illness. Ten patients showed a further karyotypic alteration from the initial findings, and, concomitantly, their disease progressed in severity including overt leukemia. These patients had a shorter survival (median, 2 months) after the chromosome reanalysis than the other 20 patients who did not have further karyotypic changes (21 months). Thus, the prognosis of patients with MDS can be predicted more accurately by reanalyzing the chromosomes after the initial analysis.

Adult↗
PubMed1995

Clinical and prognostic significance of chromosomal abnormalities in childhood acute myeloid leukemia de novo.

We report on the chromosomal pattern of 120 patients with childhood AML de novo. One hundred and fifteen patients (96%) had adequate samples for analysis; 98 (85%) of these showed clonal karyotypic abnormalities. They were classified into cytogenetic subgroups which were closely correlated with FAB subtypes: t(8;21) and M2 (n = 9); t(15;17) and M3 (n = 12); inv(16) and M4Eo (n = 9); t(9;11) and M5a (n = 10); t(11q23) other than t(9;11) and M4-M5 (n = 11); and t(1;22) and M7 (n = 4). In patients with -7/del(7q) (n = 6), leukemia was preceded by MDS in half of the cases, although they had diverse FAB subtypes. Thirty-seven patients had miscellaneous abnormalities. Despite a high CR rate, patients with t(8;21) had a very poor survival: only one child was event-free at 3 years from diagnosis. One third of patients with t(15;17) died during induction. Those eight who achieved CR fared well: only two relapsed, and six were event-free survivors. Patients with inv(16) had a high remission rate and a long survival: five children were in CR 20 to 136 months. Both groups with t(9;11) and t(11q23) had a high remission rate: however, outcome was superior for the t(9;11) group when compared to either the t(11q23) group (EFS at 3 years +/- SE, 56 +/- 17% vs. 11 +/- 10%, p = 0.07) or to the remaining patients (p = 0.06). Both -7/del(7q) and t(1;22) groups had low CR rates (50%) and poor survival. Cytogenetic analysis identifies clinically distinct subsets of childhood AML and is useful in tailoring treatment for these patients. Favorable cytogenetic groups (t(15;17), inv(16), and t(9;11)) may do well with current therapy protocols, whereas unfavorable groups (t(11q23), t(8;21), -7/del(7q), and t(1;22)) require more effective therapies.

Child↗
PubMed1986

Congenital monoblastic leukemia cutis. A case report with chromosomal abnormality: del (10p).

Congenital monoblastic leukemia cutis is a rare disorder. We report an infant who developed infiltrative skin lesions by 2 weeks of age, which, when biopsied at 4 1/2 months of age revealed a monoblastic infiltrate. Blasts in the peripheral blood were not seen until 1 week before her death at 8 months of age. Chromosomal analyses of her bone marrow showed an abnormal clone of cells with a 46,XX,del(10)(p12) karyotype. Although chromosome 10 is rarely involved in hematologic malignancies, abnormalities of this chromosome within the region 10p11-10p13 have now been shown in four of 10 reported cases of congenital monoblastic leukemia.

Bone Marrow↗