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PubMed1981

Chromosomal abnormalities in ascitic fluid from patients with alcoholic cirrhosis.

Cytology and cytogenetics were used to study ascitic fluid obtained from five patients with alcoholic cirrhosis. Cytological examination showed that all fluids contained numerous mesothelial cells and some leucocytes. Cytogenetic analysis showed abnormal karyotypes in cultured cells from all five patients and in uncultured cells from three. A consistent abnormality was the presence of spreads with over 70 chromosomes. Clones of abnormal cells, with marker chromosomes, pseudodiploidy, or aneuploidy, in an effusion are characteristic of malignancy; the abnormal karyotypes fulfilled these criteria. This finding of abnormal karyotypes indicates that transformation of the mesothelium can occur in vivo, and such a reaction may be a reflection of the mutagenic effect of alcohol.

Aged↗
PubMed1980

Osteosarcoma, fibrous dysplasia, and a chromosomal abnormality in a 3-year-old child.

Osteosarcoma is a type of malignant bone tumor that is rare among children less than five years old. This report describes a 3-year-old boy with osteosarcoma of the right proximal femur and polyostotic fibrous dysplasia of the right femur and tibia. After hemipelvectomy, histologic examination of the amputated limb disclosed that the osteosarcoma had developed in a focus of fibrous dysplasia. Cytogenetic analysis of the patient's blood lymphocytes revealed a 4q-/7p + translocation in all cells. The patient's mother had an identical translocation but did not have a history of osteosarcoma or evidence of fibrous dysplasia. The chromosomal abnormality and the developmental osseous disorder may have predisposed this patient to developing osteosarcoma at an exceptionally young age.

Child, Preschool↗
PubMed1995

[Erythroblastic transformation of chronic myelogenous leukemia associated with an additional chromosome abnormality translocation (6;9].

A 57-year-old female was diagnosed being in the blastic phase of chronic myelogenous leukemia (CML) on her second admission in May 1993. The patient was previously treated with vincristine and prednisolone in the accelerated phase of CML in December 1991 without improvement. Other chemotherapeutic agents such as BHAC-DMP (enocitabine, daunorubicin, mercaptopurine, prednisolone), interferon, mercaptopurine and ranimustine were also administered. After the second chronic phase was achieved, she was treated with busulfan as an outpatient. On her second admission, the diagnosis of erythroblastic transformation was made, and cytogenetic study revealed t(9;22) (q34;q11) with the additional chromosomal abnormalities, t(6;9) (p23;q34). This karyotype rearrangement has been reported neither in Ph-positive CML nor in blastic crisis.

Blast Crisis↗
PubMed1987

Specific gene amplification associated with consistent chromosomal abnormality in independently established multidrug-resistant Chinese hamster ovary cells.

Multidrug-resistant (MDR) Chinese hamster ovary (CHO) cell lines were established by selection for resistance to the toxicities of vinblastine (VB) and Adriamycin (AD) in progressively increasing drug concentrations. These cell lines have amplified the DNA sequence that has previously been shown to be amplified in another MDR CHO cell line which was selected with vincristine (VC). An overproduced 4.5 kb mRNA was detected in these MDR cell lines. We report here that the levels of DNA amplification and the 4.5 kb transcript do not correlate with the levels of drug resistance, suggesting that either translational control for the expression of the amplified gene is involved or multiple genes are participating in conferring drug resistance in these cell lines. The amplified DNA sequence was used as a probe and localized by in situ hybridization to chromosome 1q 26-28 (middle portion of the long arm) in the drug-sensitive CHO line, but proximal to the telomere of chromosome 1q in both VB- and AD-selected MDR cell lines. This is consistent with results that have been previously reported for the VC-selected MDR cell lines. Cytogenetic analyses revealed abnormal chromosomal banding patterns or homogeneously staining regions (HSR) between 1q 26-28 and the 1q ter in these independently established MDR lines. These results, taken together, suggest that chromosomal rearrangements leading to gene translocation have consistently accompanied gene amplification in these MDR cell lines. The mechanisms of translocation and its implication in multidrug resistance in these cell lines are discussed.

Animals↗
PubMed2006

FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue.

Over the last decade, fluorescence in situ hybridization (FISH) has become a firmly established technique in the diagnosis and assessment of lymphoid malignancies. However, this technique is not wide-ly used in the routine diagnostic evaluation of paraffin-embedded biopsies, most likely because of a perception that it is technically more demanding. There are also uncertainties regarding diagnostic thresholds and the way in which results should be interpreted. In this Review, we describe practical strategies for using FISH analysis to detect lymphoma-associated chromosomal abnormalities in routine paraffin-embedded lymphoma biopsies. Furthermore, we provide proposals on how FISH results should be interpreted (including how to calculate cutoff levels for FISH probes), recorded, and reported. An online appendix (available at http://jmd.amjpathol.org) details various simple, yet robust procedures for paraffin FISH analysis; it also provides additional information on the production of FISH probes, evaluating and reporting FISH results, sources for reagents and equipment, and troubleshooting. We hope that these suggestions will make FISH technology for the study of lymphoma biopsies more accessible to routine diagnostic and research laboratories.

Chromosome Aberrations↗
PubMed1995

Effects of cooling and equilibration in DMSO, and cryopreservation of mouse oocytes, on the rates of in vitro fertilization, development, and chromosomal abnormalities.

In a previous study, we have shown that the cryopreservation of mouse oocytes caused increases in the rates of degeneration and of digynic polyploid embryos, while the fertility of frozen-thawed oocytes was decreased. In this study, we have attempted to determine the different stages in the complete freezing-thawing process which are deleterious for the oocytes and the subsequent zygotes. IVF assays showed that DMSO decreased the fertility of oocytes, whereas cooling to 0 degrees C had no effect. DMSO, used at 0 degrees C, was less deleterious for oocytes. Thus, the prefreezing manipulations seem to be important for the quality and fertility of oocytes. However, neither DMSO nor cooling increased the incidence of chromosomal abnormalities in embryos obtained from inseminated exposed oocytes. Therefore, the increased frequency of polyploidy observed in embryos after the cryopreservation of mouse oocytes must correspond to disruption occurring during the freezing-thawing process.

Aneuploidy↗
PubMed1991

[Malignant histiocytosis with complex chromosomal abnormality: successful treatment with CHOP-E chemotherapy].

A 43 year-old man admitted to our hospital because of fever and splenomegaly. Laboratory findings were as follows: Hb 9.5 g/dl, Plts 4.9 X 10(4)/microliter, LDH 2,348 IU/l. Bone marrow findings showed tumor cell 47% with or without phagocytosis. The tumor cells were stained positive lysozyme and alpha 1 antitrypsin. Cytogenetic study was 47, XY, -7, -8, +9, -11, -12, -19, -21, 3q+, 6p+, +6 markers. This case was diagnosed as malignant histiocytosis. Complete remission was achieved with CHOP-E chemotherapy. Remission has been maintained with repeated this therapy. Etoposide deserves a good evaluation in the treatment of malignant histiocytosis. Some cases of malignant histiocytosis with a t(2; 5) (p23; q35) translocation were often reported in Europe and America, while there was no specific chromosomal abnormalities with malignant histiocytosis in Japan.

Adult↗
PubMed2004

Increased expression of AML1-a and acquired chromosomal abnormalities in childhood acute lymphoblastic leukemia.

A semi-quantitative expression analysis of both AML1-a and AML1-total was performed by RT-PCR in 19 children with acute lymphoblastic leukemia (ALL) at diagnosis. AML1-a expression was assessed in 16 bone marrow (BM) and 13 peripheral blood (PB) samples whereas AML1-total was assessed in 17 BM and 16 PB samples. These analyses were also carried out in 15 PB samples of healthy controls. In addition, 18/19 patients were karyotyped: 11 had an unmodified constitutional karyotype (CK) and seven exhibited acquired chromosomal abnormalities (ACA). The expression of AML1-a was significantly increased in BM and PB when compared with the controls (p < 0.013 and p < 0.035, respectively). A significant increase was found in the expression of AML1-a in BM of the ACA group compared with the CK group (p < 0.0009). The expression of AML1-a in BM and PB showed a significant increase in the ACA group compared with controls (p < 0.00001 and p < 0.012, respectively); in contrast, the CK group did not differ from the controls. These observations may mean that the increase of AML1-a favours the progression of leukemia.

Adolescent↗
PubMed1991

A T-cell neoplasia showing clinicopathologic features of malignant histiocytosis with novel chromosomal abnormalities and N-ras mutation.

Malignant histiocytosis (MH) is a distinct disease entity defined clinically and morphologically. However, the neoplastic origin of MH is not well established. The authors report a 26-year-old woman who showed the typical clinicopathologic features of so-called MH. Cytogenetic and molecular genetic examinations were performed in addition to the morphologic and immunologic approach. The expression of CD2 and T-cell receptor gene rearrangements indicated the T-cell origin of this case. CD30, which is positive for anaplastic large cell lymphoma (Ki-1 lymphoma), was not expressed. The cytogenetic study revealed a clonal chromosome abnormality involving 3q25, 6p21, 11p15, and 11q21. An N-ras point mutation within codon 12 (GGT----GCT) was also detected. These finding indicate that MH defined clinically and morphologically is not a tumor of true histiocytic origin and that it should be reclassified on the basis of immunologic, cytogenetic, and molecular genetic data.

Adult↗
PubMed1999

Chromosome abnormalities and MLL rearrangements in acute myeloid leukemia of infants.

Of 29 infants with acute myeloid leukemia (AML), 14 (48%) had various 11q23 translocations. MLL rearrangements were examined in 21 of the 29 patients, and 11 (52%) showed the rearrangements. 11q23 translocations and/or MLL rearrangements were found in 17 (58%) of the 29 patients. While all but one of the 17 patients with 11q23/MLL rearrangements had M4 or M5 type of the FAB classification, the 12 patients without such rearrangements had various FAB types, including M2, M4, M4EO, M6 and M7. Of the 12 patients with other chromosome abnormalities or normal karyotypes, two had inv(16) ort(16;16), one had t(1;22)(p13;q13), and two had a novel translocation, t(7;12)(q32;p13). The breakpoint on 12p of the t(7;12) was assigned to intron 1 or the region just upstream of exon 1 of the TEL/ETV6 gene by fluorescence in situ hybridization. The event-free survival at 5 years for the 17 patients with 11q23/MLL rearrangements was 42.2%, and that for the 12 patients without such rearrangements was 31.3% (P = 0.5544). 11q231MLL rearrangements have been frequently reported and a poor prognosis in infant acute lymphoblastic leukemia implied. Our study showed that while 11q23/MLL rearrangements were also common in infant AML, AML infants with such rearrangements had a clinical outcome similar to that of AML infants without such rearrangements.

Acute Disease↗
PubMed2001

Effect of additional chromosomal abnormalities in acute promyelocytic leukemia treated with all-trans-retinoic acid: a report of 17 patients.

Seventeen cases of acute promyelocytic leukemia (APL) treated with all-trans-retinoic acid (ATRA) and combination chemotherapy at Tokyo Metropolitan Komagome Hospital between 1992 and 1999 were reviewed, and divided into 2 karyotype-based cytogenetic groups. One group comprised 7 patients with either the typical t(15;17) alone or a normal karyotype, and the other group comprised 10 patients with additional karyotypic abnormalities. No patient had received prior chemotherapy or irradiation, and no cases were complicated by a history of myelodysplastic syndrome before the diagnosis of APL. There were no significant differences in clinical characteristics at disease presentation. Complete remission was achieved in all 17 patients and karyotypes of bone marrow cells normalized in all cases. No differences were found in relapse rate, overall survival, or disease-free survival between the 2 groups. The analysis did not reveal any significant effect of additional chromosomal abnormalities on the prognosis of APL patients undergoing treatment with ATRA. However, a small number of patients were assessed in this study, and further cumulative studies are needed.

Adolescent↗
PubMed1982

Similar chromosomal abnormalities in several retinoblastomas.

The study of banded chromosomes of nine sporadic unilateral retinoblastomas revealed near diploid karyotypes with multiple numerical and (or) structural abnormalities in all tumors. An identical marker i(6p) was noted in cells of the modal class of six retinoblastomas. Extra copies of the short arm of chromosome 6 were observed in seven tumors: +i(6p) in 6 and +6q-in one. Less regular but repeated findings were a loss of one sex chromosome, and markers 1p+ and 17q+. The structure of these markers was not identical in different tumors. Abnormalities of chromosome 13 were not observed in tumor cells, nor in blood lymphocytes stimulated by PHA.

Aneuploidy↗
PubMed2007

Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?

OBJECTIVES: Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other variables and to clarify their diagnostic value. METHODS: DNA from pre-CVS maternal plasma was extracted from 264 controls, 72 trisomy 21, 24 trisomy 18, 12 trisomy 13, 16 Turner's syndrome and 8 triploidy first-trimester pregnancies and quantified using real-time PCR. beta-globin was used to determine total cfDNA levels and DYS14 and SRY assays to determine fetal cfDNA levels. RESULTS: Fetal cfDNA levels (DYS14) showed correlation with crown rump length (CRL) (p = 0.004), BMI (p = 0.01) and storage time (p = 0.007) while there was an inverse correlation of total cfDNA levels with nuchal translucency (NT) (p = 0.001). No significant difference was observed between the levels of fetal cfDNA in controls and aneuploidy cases. CONCLUSION: Quantification of fetal and total cfDNA in maternal circulation showed inverse correlation between NT and total cfDNA levels. Our results also suggest that fetal cfDNA is not an ideal prognostic marker for chromosomal abnormalities in first-trimester pregnancies.

Biomarkers↗
PubMed1988

Relative deoxyribonucleic acid content of interphase leukocytes by flow cytometry: a method for indirect diagnosis of chromosomal abnormalities with potential for prenatal diagnosis.

A major goal of prenatal cytogenetic analysis is the development of minimally invasive techniques by which all pregnancies may be screened. That nucleated fetal cells exist in the maternal circulation raises the possibility that their cytogenetic status could be determined. However, these cells may not respond to commonly used mitogens. Thus it will probably be necessary to develop methods to analyze nondividing (interphase) cells. We therefore evaluated the use of flow cytometry as a means of determining whether the relative deoxyribonucleic acid content of G0-G1 leukocytes (expressed as the deoxyribonucleic acid index) could be used to verify aneuploidy or other chromosomal abnormalities. Our findings indicate this is indeed possible. We determined that the mean deoxyribonucleic acid index of circulating leukocytes from normal adult men (n = 15) was significantly different from that of leukocytes from normal adult women (n = 15). Similar results were obtained in leukocytes from umbilical cord blood of normal male neonates (n = 15) and normal female neonates (n = 15). Most importantly, values for leukocytes from each of 13 aneuploid individuals fell outside the range of values for leukocytes from normal adults of the same sex.

Adult↗
PubMedDate not supplied

Acute lymphoblastic leukemia of Burkitt's type (L3-ALL) without chromosome abnormality and lacking surface and cytoplasmic immunoglobulins.

A case of heterogeneous acute lymphoblastic leukemia of the Burkitt type (L3-ALL) is reported. A 58-year-old woman was admitted to our hospital with complaints of palpitation and shortness of breath in December 1988. On admission, the peripheral blood showed severe pancytopenia. The bone marrow was hypercellular with abnormal lymphoblasts; the cytoplasm was moderately abundant and intensely basophilic with prominent vacuoles. A diagnosis of L3-ALL was made. Cytogenetic analysis of bone marrow cells revealed a karyotype of 46,XX. The leukemic blasts were HLA-DR+, CD10+, CD19+ and CD20+, but no surface or cytoplasmic immunoglobulins were detected. This is the first report in Japan of a case of L3-ALL without chromosome abnormality and lacking surface and cytoplasmic immunoglobulins.

Antigens, CD↗
PubMed1995

Neural tube defects, chromosome abnormalities and multiple closure sites for the human neural tube.

The hypothesis that during human embryogenesis there is multi-site closure of the neural tube, with possibly regionally distinct genetic control, is examined in the light of the neural tube defects (NTD) observed in trisomy 13, trisomy 18 and triploidy which survive at least to the mid-trimester. In a series of mid-trimester fetuses examined post-mortem, there were two spina bifidas in 25 cases of trisomy 13; eight spina bifidas and one anencephalic among 38 trisomy 18 individuals; and three spina bifidas in 13 triploids. Not only was there a predominance of spina bifida, but all the spina bifidas were similar in location along the neuraxis: regardless of chromosome constitution, they were all sacral or lumbosacral. A survey of the literature confirms this finding. While this regionally distinct type of NTD is not specific to a particular chromosome abnormality and thus by implication to any particular gene, it does seem to be specific to an imbalance caused by an excess of genetic material of a type which permits survival past the first few post-conception weeks, and thus lends some support to the hypothesis.

Chromosome Aberrations↗
PubMed1999

Clonal chromosomal abnormalities in the stem cell compartment of patients with acute myeloid leukemia in morphological complete remission.

Acute myeloid leukemia arises from the clonal expansion of a malignant transformed progenitor cell. Despite intensive chemotherapy, final disease eradication is achieved by a small proportion of cases only and 50-70% of adults with AML will ultimately relapse and die from their disease. Hence residual disease below the level of morphological detectability must be assumed in clinical and morphological complete remission. CD34+/CD38- and CD34+/CD38+ subpopulations of seven patients in morphological complete remission were isolated by FACS (purity >98%) and were analyzed by conventional cytogenetics or FISH for chromosomal aberrations. In five of seven patients, clonal chromosomal abnormalities were detected in the CD34+/CD38+ subpopulation and in one patient with AML M2 (add (2)(q37)) in the most immature CD34+/CD38- stem cell compartment. One patient with AML M4Eo (inv(16),+8), showed a normal karyotype by conventional cytogenetic analysis, whereas four of 15 metaphases of the sorted CD34+/CD38+ subpopulation revealed the inversion 16. These observations underline that leukemic cells can survive intensive chemotherapy in the niche of the stem cell compartment. In some patients the sensitivity for the detection of persistent leukemic cells seems to be higher in FACS-sorted subpopulations than conventional cytogenetic analysis of the unseparated bone marrow. Immunophenotyping revealed minimal residual disease in four of the patients. Functional analysis has to be performed to investigate the leukemogenic potential of these residual cells.

ADP-ribosyl Cyclase↗
PubMed1989

B-cell chronic lymphocytic leukaemia: clonal chromosome abnormalities and prognosis in 89 cases.

The results of cytogenetic studies are reported in 89 patients with B-cell CLL. LPS (E. coli lipopolysaccharide), PWM (pokeweed mitogen), PHA (phytohaemagglutinin), EBV (Epstein-Barr virus), TPA (phorbol 12-myristate 13-acetate), and LA (leucoagglutinin) were used as mitogens. Mitoses were obtained from 78 cases. Clonal aberrations could be demonstrated in 26 cases. Trisomy 12 was the most frequent finding (8 cases) and was sole abnormality in 4 cases. Chromosomes #14, #17, and #11 were involved in structural aberrations in 5, 7, and 7 cases respectively, but a t(11;14)(q13;q32) was the only structural aberration seen more than once. The median observation time was 47 months (range 1-87). The presence of clonal abnormalities did not influence survival significantly, either when calculated from diagnosis or from cytogenetic analysis. Patients with more than one aberration, however, had a significantly shorter survival than patients with normal mitoses only (p less than 0.05). The survival of 8 patients with trisomy 12 (in 4 as sole abnormality) was not different from that of patients with normal mitoses only.

Chromosome Aberrations↗