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PubMed2005

Interphase chromosomal abnormalities and mitotic missegregation of hypomethylated sequences in ICF syndrome cells.

The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disease. Usually, it is caused by mutations in the DNA methyltransferase 3B gene, which result in decreased methylation of satellite DNA in the juxtacentromeric heterochromatin at 1qh, 16qh, and 9qh. Satellite II-rich 1qh and 16qh display high frequencies of abnormalities in mitogen-stimulated ICF lymphocytes without these cells being prone to aneuploidy. Here we show that in lymphoblastoid cell lines from four ICF patients, there was increased colocalization of the hypomethylated 1qh and 16qh sequences in interphase, abnormal looping of pericentromeric DNA sequences at metaphase, formation of bridges at anaphase, chromosome 1 and 16 fragmentation at the telophase-interphase transition, and, in apoptotic cells, micronuclei with overrepresentation of chromosome 1 and 16 material. Another source of anaphase bridging in the ICF cells was random telomeric associations between chromosomes. Our results elucidate the mechanism of formation of ICF chromosome anomalies and suggest that 1qh-16qh associations in interphase can lead to disturbances of mitotic segregation, resulting in micronucleus formation and sometimes apoptosis. This can help explain why specific types of 1qh and 16qh rearrangements are not present at high frequencies in ICF lymphoid cells despite diverse 1qh and 16qh aberrations continuously being generated.

Chromosome Aberrations↗
PubMed2003

Pure red cell aplasia in a patient with trisomy X chromosome abnormality and reactivated Epstein-Barr virus infection.

We describe a woman with a congenital chromosome anomaly, 47,XXX, who developed chronic pure red cell aplasia (PRCA). The patient had serologic reactivity consistent with that of reactivated Epstein-Barr virus (EBV) infection, as judged by high titers for anti-EBV viral capsid antigen (VCA) immunoglobulin G (IgG) and anti-early antigen (EA) IgG. Detection of EBV genome in peripheral blood cells and cell-free serum also supported the diagnosis. Although EBV infection has been implicated in the pathogenesis of acute PRCA, the viral infection rarely results in a chronic disease state. So far, only 1 case of EBV-associated chronic PRCA has been reported, to the best of our knowledge. Chronic PRCA also is known to occur on an autoimmune basis. Individuals carrying an extra X chromosome, such as XXY and XXX, are prone to development of immune abnormalities. Our patient had an anti-DNA autoantibody and a positive result of the direct Coombs test. The pathogenesis of PRCA in this case seemed to involve multiple factors. In addition to the infectious agent, host factors may have played a role. Although the etiologic link between chronic PRCA and trisomy X remains to be elucidated, our findings suggest the importance of karyotype analysis as well as search for infectious agents in patients with chronic PRCA.

Chromosomes, Human, X↗
PubMed1991

Correlation of chromosome abnormalities with histological and clinical features in Wilms' and other childhood renal tumors.

Chromosomes and histology were successfully studied in 33 childhood renal tumors. Thirty-one tumors were classified as one of four subtypes of Wilms' tumor. Of 24 typical Wilms' tumors, 12 had hyperdiploidy with nonrandom trisomies, mostly including +6 and/or +12. Three typical Wilms' tumors with an 11p13 deletion or a pericentric inversion with a break in 11p13 were not associated with aniridia. Two other typical Wilms' tumors with the 11p13 deletion and one fetal rhabdomyomatous nephroblastoma with an 11p13 translocation were associated with aniridia. Two cystic partially differentiated nephroblastomas showed hyperdiploidy with +12. Of four clear cell sarcomas of the kidney, three had normal diploidy and the other had a 2;22 translocation. Two congenital mesoblastic nephromas had hyperdiploid karyotype with trisomy 11, which was never seen in the 31 Wilms' tumors. Our findings and a review of data on 102 reported Wilms' tumors revealed 11p13 abnormalities in 24 tumors, 11p15 abnormalities in five tumors, and partial deletions of 1p, 7p, 11q, 12q, 16q, or 17p or monosomy of No. 21 or No. 22 each in four or more tumors. These findings suggest that increased copy number of genes on the nonrandom trisomic chromosomes might contribute to the genesis of many Wilm's tumors and that deletion of various tumor suppressor genes other than a Wilms' tumor gene, WT1 in 11p13, might also play a critical role in the development of some tumors.

Child↗
PubMed1991

Acute myeloid leukemias with chromosomal abnormalities involving the 21q22 region identified by their in vitro responsiveness to interleukin-5.

Among 52 patients diagnosed as acute myeloid leukemia (AML), nine cases were found in which interleukin-5 (IL-5) induced a proliferative response in the leukemic cells, as measured by the stimulation of DNA synthesis or colony formation in vitro. All cases (n = 7) with the cytogenetic abnormality t(8;21)(q22;q22) belonged to this group of IL-5 responders. Of the additional two cases, one had an apparently normal karyotype, but the other expressed a dicentric chromosome 21, an abnormality also involving the breakpoint region 21q22. The leukemic cells of the IL-5 responsive patients could also be stimulated to proliferate by IL-3, GM-CSF and G-CSF, and in some cases by IL-6 or M-CSF. Immunophenotypic analysis revealed the presence of the immature hematopoietic cell antigen CD34, the myelomonocytic maturation antigens CD13 and CD33, in association with the B-cell related surface marker CD19 on the leukemic cells. Immunoglobulin mu and T-cell receptor beta-genes in the leukemic cells were in germline configuration. Upon incubation in colony culture, clonogenic cells were capable of producing progeny showing eosinophilic or neutrophilic maturation following stimulation with IL-5 or G-CSF, respectively. It is concluded that IL-5 responsive AML represents a subgroup of leukemia with distinct immunotypic and cytogenetic features.

Antigens, CD↗
PubMed1995

[Study of the relation between dose of ionizing radiation and level of chromosome abnormalities in an adult patient following total body irradiation].

The dose-effect relationship for dicentric chromosome aberrations and centric rings was studied in a female patient exposed to whole-body gamma irradiation for myeloid leukaemia. Samples were taken before and at different times during the exposure. The dose-effect relationship is on the linear-quadratic type and practically identical with those found earlier when the blood from adults and children was irradiated in vitro and only slightly above that of children irradiated in vivo.

Abnormalities, Radiation-Induced↗
PubMed1995

Poor prognosis in multiple myeloma is associated only with partial or complete deletions of chromosome 13 or abnormalities involving 11q and not with other karyotype abnormalities.

Chromosomal abnormalities have major biologic and prognostic implications in leukemias. Cytogenetic information in typically hypoproliferative multiple myeloma (MM) is limited because of difficulties in obtaining analyzable metaphases. In this study, karyotypes and other known prognostic factors were analyzed in 155 newly diagnosed MM patients, entered on an intensive treatment program with two autotransplants. Complete remission (CR), event-free (EFS) and overall survival (OS) were analyzed using standard statistical methods. Abnormal cytogenetics were found in 39% of patients and were associated with a significantly lower CR rate (27% v 48%; P = .008). EFS and OS were inferior in patients with either partial or complete deletion of chromosome 13 or 11q abnormalities ("unfavorable" karyotype) when compared with the remaining patients (P < .001) who, as a group, had a similar prognosis irrespective of cytogenetic findings, ie, inevaluable, normal, or abnormal but without an "unfavorable" karyotype. The patients with abnormalities of both chromosomes 11 and 13 had a dismal prognosis with median EFS and OS of only 11 and 12 months, respectively. Significant associations were noted between an "unfavorable" karyotype and IgA isotype, elevated levels of beta-2 microglobulin (B2M, > or = 3 mg/L) and age > 60 years. On multivariate regression analysis, the absence of an "unfavorable" karyotype was the most significant variable associated with prolonged EFS and OS (P = .0001 and .0002, respectively). Other independent favorable variables were age less than 60 years, C-reactive protein (CRP) < or = 0.4 mg/dL and bone marrow plasmacytosis < or = 50% before treatment. On a multivariate analysis without cytogenetics, these same three standard parameters were identified as the only favorable variables. Patients not having all three standard favorable variables had a significantly lower CR rate (P = .03), EFS (P = .0001), and OS (P = .002) if an unfavorable karyotype was detected. We conclude that, in this program of uniformly treated MM patients, a poor prognosis was associated predominantly with abnormalities of chromosomes 11 and 13.

Chromosome Aberrations↗
PubMed1986

Chromosome abnormalities in bovine papillomavirus type 1-transformed Syrian hamster cells before and after tumor formation.

Syrian hamster embryonic fibroblasts transformed by infection with bovine papillomavirus type 1 cause tumors when inoculated into hamsters. Chromosome examinations revealed several abnormal clones in the transformed fibroblasts and a variety of additional markers in three tumors. Only one aberration, trisomy 11, was present in each cell. The extra chromosome #11, thus, is considered to be essential for tumor formation in this model system.

Animals↗
PubMed1991

Significance of chromosomal abnormalities in a malignant giant cell tumor of bone.

Cytogenetic analysis of a malignant giant cell tumor of the sacrum from a 62-year-old female revealed the following chromosomal complement: 47,XX, -1, -11, +22,del(2)(p22),t(7;7) (p22;q32), +der(1)t(1;11;21)(p32;q13;q22), +der(19)t(19;?)(q13.4;?), der(8)t(8;?)(p11;?), der(7)t(17;?)(p13;?). Metaphase cells with 92-127 chromosomes sharing identical structural abnormalities detected in the near-diploid cells were also observed. Several of these abnormalities have previously been described in the benign giant cell tumors supporting a direct relationship between these benign and malignant neoplastic counterparts.

Bone Neoplasms↗
PubMed1975

Structural X-chromosome abnormality in a female with gonadal dysgenesis.

A patient with gonadal dysgenesis and 46 chromosomes is described. In the inactive X chromosome there seems to be a deletion of the short arms and an insertion of heterochromatin in the long arms. The most probable mechanism to explain this structurally abnormal X is a pericentric inversion, with breakage and union having occurred in the centromeric heterochromatin of the short arm and in band q23 of the long arm. An amplification of the centromeric heterochromatin left in the short arm is also supposed.

Adult↗
PubMed1988

Multiple unrelated clonal chromosome abnormalities in an in situ squamous cell carcinoma of the skin.

We have cytogenetically analyzed short-term cultures from an in situ squamous cell carcinoma of the skin (Bowen's disease). The following mosaic tumor karyotype was found: 46,XX, -1, +der(1)(pter----p22::q11----cen----p22:), -9, +der(9)t(1;9)(q11; p24)/46,XX,t(3;6) (q21;p21)/46,XX,t(5;14)(q13;q24),t(7;18)(q32;q11)/46,XX,t(8;11)(p22;q13) /46, XX,t(8;11) (p22;q13),t(15;17) (q13;q24)/46,XX,t(12;15)(q12;p11). None of the rearrangements correspond to previously known cancer-associated abnormalities. Two of the clones are obviously related, and it is reasonable to assume that the t(15;17) developed as an evolutionary change in a cell that already contained t(8;11)(p22;q13). Since five clones without cytogenetic similarities were found in this in situ skin carcinoma, we suggest that the tumor was of polyclonal origin. It is impossible to decide whether all, or indeed any, of the visible abnormalities constitute pathogenetically essential primary changes, or merely represent chromosomal markers of secondary importance in tumorigenesis.

Carcinoma in Situ↗