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PubMed2002

Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities.

Comparative genomic hybridization (CGH) is a technique for detection of chromosomal imbalances in a genomic DNA sample. We here report the application of the recently developed method of high-resolution CGH on DNA samples from 66 children having various degrees of delayed psychomotor development with or without clear dysmorphic features and congenital malformations. In 5 of 50 patients with apparently normal karyotypes, a deletion or duplication was revealed by CGH. Only one of these cases had a subtelomeric rearrangement. In one of seven cases with a de novo apparently balanced translocation, deletions were found. In all nine cases where the origin of a marker chromosome or additional chromosomal material was difficult to determine, CGH gave a precise identification. The following findings were from cases having a deletion or duplication as the sole chromosomal imbalance; dup(2)(p16p21), del(4)(q21q21), del(6)(q14q15), del(6)(p12p12), dup(6)(q24qter), and dup(15)(q11q13). One case had dup(9)(p11pter) combined with a very small subtelomeric deletion on 6q. In our hands, CGH is highly useful not only for identifying known chromosomal imbalances, but also for finding elusive deletions or duplications in the large group of children with developmental delay with or without congenital abnormalities. In such cases, the diagnostic yield of CGH appears to be higher than what has been reported from subtelomeric FISH screening.

Adolescent↗
PubMed1992

Clonal chromosomal abnormalities in desmoid tumors. Implications for histopathogenesis.

Desmoid tumors (aggressive fibromatosis) are regarded as lesions of uncertain histopathogenesis. Cytogenetic analyses of 26 desmoid tumor specimens from abdominal or extraabdominal sites of 22 patients with or without Gardner's syndrome (GS) showed clonal karyotypic abnormalities in 7 cases, random abnormalities in 14 cases, and striking telomeric fusion in 5 cases. Loss of chromosome Y, a reported feature of fibromatosis in penile and palmar locations, was detected as a clonal aberration in two patients. Additionally, involvement of 5q was observed in six patients, two of whom had GS. Clonal interstitial deletions of 5q were observed in three patients, one with and two without GS. These findings confirm a clonal and probable neoplastic origin for desmoid tumor and suggest that abnormalities of the Y chromosome and 5q may be important in the genesis of this neoplasm.

Adolescent↗
PubMed1979

Eosinophilia, chloromas and a chromosome abnormality in a patient with a myeloproliferative syndrome.

The existence of eosinophilic leukemia remains controversial since many authors challenge the existence of this entity. We present a patient with a hypereosinophilic syndrome whose findings were consistent with a leukemic process. The patient's course was marked my signs and symptoms of myeloblastoma formation and his illness terminated in an acute blastic crisis. chromosome studies on peripheral blood leucocytes demonstrated aneuploidy and an abnormal number four chromosome with additional material on its long arm. This case appears to be an unusual example of a hypereosinophilic syndrome with both myeloblastoma formation and an abnormal leucocyte karyotype.

Adult↗
PubMed1986

Chromosome abnormalities in familial hemophagocytic lymphohistiocytosis.

Familial hemophagocytic lymphohistiocytosis (FHLH) is an uncommon disorder characterized by multiorgan infiltration with phagocytic histiocytes/macrophages. It may be inherited as an autosomal recessive trait, but specific associated cytogenetic abnormalities have not been documented. The authors describe a 10-week-old white female without prior family history of FHLH, who fulfilled the histologic and clinical criteria for the diagnosis. In addition, cytogenetic abnormalities, including the presence of double minute chromosomes and occasional loss of chromosomes 7 and 12, were documented in unstimulated peripheral blood cells. These karyotypic findings are usually associated with dyserythropoietic and leukemic states, and have not been described previously in the context of FHLH. It may be useful to do chromosome analyses on unstimulated peripheral blood cultures from FHLH patients before treatment to examine the karyotype of proliferating cells, which may represent the infiltrative histiocytes seen in the disorder.

Chromosome Aberrations↗
PubMed1995

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.

Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 is involved in DNA mismatch repair in a variety of tissues. PMS2-deficient animals appear prone to sarcomas and lymphomas. PMS2-deficient males are infertile, producing only abnormal spermatozoa. Analysis of axial element and synaptonemal complex formation during prophase of meiosis I indicates abnormalities in chromosome synapsis. These observations suggest links among mismatch repair, genetic recombination, and chromosome synapsis in meiosis.

Adenosine Triphosphatases↗
PubMed1996

Chromosomal abnormalities and oncogenes.

The alterations of transcription factor genes by chromosomal translocations play an important role in leukemogenesis and lymphomagenesis. The alterations are classified into two groups. One is the chimeric gene formation, and the other is the aberrant expression without structural changes. The former type is associated with the chromosomal translocations found in acute myeloid leukemia, such as the AML1/MTG8 in t(8;21) and PML/RAR alpha in t(15;17). The latter is the main mechanism in the gene activations observed in acute lymphoblastic leukemia and lymphoma. Many transcription factor genes are activated by the recombination with the immunoglobulin genes in B cell malignancies or T cell receptor genes in T cell malignancies. We isolated the AML1/EVI-1 fusion gene generated by the t(3;21) translocation, which is usually found in blastic crisis of chronic myelocytic leukemia. The chimeric transcription factor encoded by the fusion gene has dual functions, namely differentiation block and stimulation of proliferation. These findings provide new insight into the molecular mechanism in leukemogenesis by the chimeric transcription factors.

Chromosome Aberrations↗
PubMedDate not supplied

Complex chromosome abnormality mimicking t(8;21)in an acute myeloblastic leukemia.

A patient with acute myeloblastic leukemia (AML) and karyotypic abnormality mimicking t(8;21) is reported. Because of the uncommon morphology of blasts for AML with t(8;21), and absence of AML1-ETO fusion in the RT-PCR analysis, fluorescence in situ hybridization (FISH) was applied to precise the abnormality. FISH revealed a complex rearrangement involving chromosomes 7, 21 and 8, and involvement of the AML1 gene without evidence of AML1-ETO fusion. This case of unusual AML illustrates the necessity of collecting all hematologic, cytogenetic, and eventual FISH and RT-PCR data to analyse genetic rearrangements in leukemic patients.

Adult↗
PubMed2002

Myeloma of the central nervous system: association with high-risk chromosomal abnormalities, plasmablastic morphology and extramedullary manifestations.

Involvement of the central nervous system (CNS) by multiple myeloma, as defined by the detection of malignant plasma cells in the cerebrospinal fluid in the presence of suggestive symptoms, is considered extremely rare. We report on the characteristics of 18 such patients diagnosed and treated at the University of Arkansas over the last 10 years for an overall incidence of approximately 1%. Their evaluation revealed association of CNS involvement with unfavourable cytogenetic abnormalities (especially translocations and deletion of the chromosome 13), high tumour mass, plasmablastic morphology, additional extramedullary myeloma manifestations and circulating plasma cells. The presence of these features should alert clinicians to the possibility of CNS involvement. The outcome of these patients was extremely poor despite the use of aggressive local and systemic treatment including autologous stem cell transplants. Given this universally poor prognosis, the application of allogeneic transplants should be studied in this clinical setting.

Adult↗
PubMed2004

Myeloma of the central nervous system: strong association with unfavorable chromosomal abnormalities and other high-risk disease features.

Involvement of the central nervous system (CNS) by multiple myeloma, defined by the detection of malignant plasma cells in the cerebrospinal fluid in the presence of suggestive symptoms, is considered extremely rare. We present the characteristics of 25 such patients (18 previously reported) intended to receive high-dose treatment at the University of Arkansas over the last 12 years; an extensive review of the published literature since 1968, including 71 patients, is also presented. In both patient groups, high tumor burden was overwhelmingly present while circulating plasma cells were detected in a significant proportion of cases. We also observed a strong association of CNS involvement with unfavorable cytogenetic abnormalities (especially translocations and deletion of the chromosome 13), plasmablastic morphology and additional extramedullary myeloma manifestations. The presence of these features should alert clinicians to the possibility of CNS involvement. The prognosis of such patients is poor despite aggressive systemic and local treatment and reflects the underlying disease biology. Application of allogeneic transplantation and administration of prophylactic CNS treatment are also discussed. Further elucidation of the factors predisposing patients with high-risk disease features to CNS myeloma involvement is needed.

Adult↗
PubMed1998

[Klinefelter syndrome affects mostly boys. An underdiagnosed chromosome abnormality].

Although Klinefelter's syndrome is the most common sex chromosome anomaly, affecting one in 5-800 boys, our knowledge of the syndrome is still poor. This is reflected in the paucity of published literature as compared, for example, with the vastly greater number of publications on Turner's syndrome with its lower incidence of 1/2,500 girls. Klinefelter's syndrome is manifestly underdiagnosed. Existing knowledge mainly derives from cases characterised by prominent symptomatology. Early diagnosis is important if additional support and resources are to be made available to the patient and his family. Testosterone replacement therapy should be initiated as soon as clinical and laboratory evidence becomes available. In selected cases, testosterone treatment can be started already during adolescence. At present, there is no established treatment for the infertility which almost always accompanies the condition.

Adult↗
PubMed1998

[Contribution of chromosomal abnormalities to in vitro fertilization failures].

BACKGROUND: Present knowledge of mechanisms involved in human fertilization has uncovered a new group of pathologic conditions that have been generically named fertilization abnormalities. AIM: To determine the contribution of chromosomal alterations to in vitro fertilization failures. MATERIALS AND METHODS: A cytogenetic analysis of oocytes that were not fertilized after insemination with normal spermatozoa. Oocytes were obtained from patients subjected to in vitro fertilization in a public hospital of Metropolitan Santiago. Ovulation was induced in these patients administering GnRh-a, FSH, HMG and HCG. The double fixation technique described by Wramsby was used to obtain chromosomes. RESULTS: One hundred and seven oocytes coming from 45 women aged 25 to 42 years old were studied. The frequency of aneuploidy in these oocytes was 37.3%, with a 11.8% of hypohaploidy, a 21.6% of hyperhaploidy and a 3.9% of diploid oocytes. In hyperhaploid as well as in hypohaploid oocytes, the chromosomes involved in aneuploidy pertained to groups D. and G. CONCLUSIONS: Although the total frequency of aneuploidy is within normal ranges, the frequency of hyperhaploidy is superior to previous reports. An explanation for this finding could be that the occurrence of a lack of disjunction with chromosomal retention in the parental cell occurs with a higher frequency than that in which the chromosomes are retained in the polocyte. We also suggest that oocyte chromosomal aneuploidy could contribute to the failure of in vitro fertilization procedures.

Adult↗
PubMed1993

Multiple chromosome abnormalities in patients with acute leukemia after autologous bone marrow transplantation using total body irradiation and marrow purged with mafosfamide.

Cytogenetic follow-up studies such as those reported after allogeneic bone marrow transplantation are not available in patients submitted to an autologous bone marrow transplantation (ABMT). Of 114 patients with acute leukemia (69 acute myelocytic AML, 43 acute lymphocytic ALL, 2 undifferentiated) who underwent an ABMT in our institution in the period from February 1983 to December 1989, 66 had evaluable cytogenetic data post-transplant. They all received a pretransplant regimen consisting of cyclophosphamide (CY) and total body irradiation (TBI) followed by reinfusion of marrow purged with mafosfamide. Twenty patients showed chromosomal damage at some time; of these, six relapsed early post-ABMT, one died while in persisting remission at 81 months post-ABMT from overwhelming pneumococcal sepsis related to a previous splenectomy, and 13 are still alive and well at 13 to 88 months post-transplant. The bone marrow cytogenetic abnormalities were complex: they included various numbers of clonal aberrations or variations or combination of those; they affected all but the Y chromosome, with a predominance however for chromosomes 1, 3, 6, and 7; they were often transitory and in some instances became modified with time. None of these chromosomal abnormalities was connected with the initial leukemia, even in the 6 patients who relapsed early. In the other 14 patients, these abnormalities have so far had no detectable unfavourable implication. The origin of these abnormalities is unknown: both the pretransplant regimen (CY and/or TBI) and/or marrow purging with mafosfamide can be incriminated. Additional studies in patients autografted with pretransplant regimen not containing TBI and/or with unpurged marrow are necessary to discriminate between these two possibilities.

Antineoplastic Agents↗