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PubMed1990

Cytogenetic analysis of 147 cases of non-Hodgkin's lymphoma: non-random chromosomal abnormalities and histological correlations.

A prospective cytogenetic study of patients with non-Hodgkin's lymphoma (NHL) presenting to one institution was commenced in 1983 as part of a larger study including histology, immunophenotyping, cytokinetics and survival. 175 patients were studied over 5 years and G-banded karyotypes were successfully obtained in 147. Chromosome abnormalities were detected in 135 cases (92%) with the commonest abnormality being t(14;18)(q32;q21) in 69 cases. Other non-random translocations were much less frequent, i.e. t(11;14) in seven cases and t(8;14) in four cases. Other specific structural changes included partial deletions of 6q (breakpoints ranging within q13-q23), 3q (breakpoints ranging within q21-q27), 1q and 10q22. Chromosome regions highlighted as being frequently involved in structural abnormalities were 11q13-q25, 1p22-p36, 3q21-q27 and 6q13-q23. Several specific recurring breakpoints were identified and these included 14q32, 18q21, 1p36 and 6q21. Frequently occurring numerical abnormalities were gains of chromosomes 3, 7, X and 12. Correlation with histological type showed, as expected, that t(14;18) was present in 89% of follicular lymphoma but also occurred in 30% of diffuse lymphoma. Abnormalities of 11q were correlated with the diffuse histologies as a group, whereas both numerical and structural abnormalities of chromosome 3 correlated with the diffuse large cell lymphoma (DLCL) subtype, and t(11;14) with diffuse small cleaved cell lymphoma (DSCCL). Although not statistically significant, abnormalities of 6q occurred twice as frequently in DLCL than in any other variety. However, several other commonly occurring abnormalities, such as extra copies of chromosomes 7, X, 12 and most of the structural abnormalities of 1p, did not correlate with any histological type. Therefore this large cytogenetic study has confirmed some previously reported correlations between specific chromosome abnormalities and histological subtypes of non-Hodgkin's lymphoma and has also identified some new correlations which may prove useful in the investigation of the biological basis of the disease.

Chromosome Aberrations↗
PubMed2004

Effect of interferon-alpha on chromosome abnormalities in treated chronic myelogenous leukemia patients.

To investigate the relationship of chromosomal aberrations at blastic crisis (BC) in chronic myelogenous leukemia (CML), with previous therapies and with atomic bomb (AB) exposure, we studied 114 CML patients who developed BC, including 23 AB survivors in Hiroshima. In total, only 45.6% showed major-route abnormalities, which figure was far lower than those previously reported, implying possibility of geographical difference. Occurrence of major-route abnormality was not associated with either duration of chronic phase or survival time after BC. Patients treated with interferon-alpha (IFNalpha) showed lower frequency of major-route abnormalities and lower number of abnormal chromosomes than did patients treated with busulfan (Bu). The frequency of trisomy 8 was lower and monosomy 7 was higher in IFNalpha-treated than in Bu-treated patients. The frequency of unusual abnormalities at BC in IFNalpha-treated patients was indistinguishable from those in Bu-treated patients and, notably, a more common (40%) feature in IFNalpha-treated patients was no change in the cytogenetic picture. Thus, we conclude that IFNalpha action on chromosome aberration is basically quite neutral and that IFNalpha does not induce any specific aberrations, including unusual ones at BC, with an exception of deletion of chromosome 7. Atomic bomb exposure status did not make any difference in secondary abnormalities at BC.

Adolescent↗
PubMed1997

Maternal urinary beta-core hCG in chromosomally abnormal pregnancies in the first trimester.

We evaluated urinary beta-core human chorionic gonadotropin (beta-core hCG) in the detection of fetal Down's syndrome (DS) in the first trimester of pregnancy. Urine was collected prior to performing chorionic villous sampling (CVS) between 10 and 12 completed weeks from the last menstrual period. In the 9 months of the study, there were 15 chromosomal abnormalities detected by CVS: five trisomy 21, four monosomy X, two trisomy 18, and four cases of confined placental mosaicism (CPM). In these 15 aneuploid pregnancies, the levels of urinary beta-core hCG were expressed as multiples of the median (MOM) of the ratio of beta-core hCG/creatinine for gestational age. The MOMs of this ratio in each of the five DS pregnancies were 0.2, 0.5, 1.3, 1.4, and 1.7. No difference was found between fetuses with DS or any of the other chromosomal abnormalities tested and normal fetuses. Contrary to optimistic reports of urinary beta-core hCG in the second-trimester detection of fetal DS, our data suggest that this is not a useful screening test for DS in the first trimester of pregnancy.

Aneuploidy↗
PubMed1975

Chromosomes and causation of human cancer and leukemia. XII. Banding analysis of abnormal chromosomes in polycythemia vera.

The chromosome constitution of bone marrow cells was determined in 13 patients with polycythemia vera (PV). In 5 of these patients definite karyotypic abnormalities were found: 3 with 46,XY,Fq-; 1 with 46,XY,11q-, 13q-; and 1 with missing Y. The latter cytogenetic finding is thought not to be related to the PV. The 4 patients with partial deletions of chromosomes had been treated with 32P, and 3 of them with chemotherapy also. Karyotypes from 2 of these patients, 1 with 46,XY,20q-, and another with 46,XY,11q-,13q- were examined with G and/or Q banding. From the results of the banding analysis, it appears that the abnormal chromosomes were due to simple deletions at specific sites on their arms, particularly in the cases with the F abnormality (20q11). The breaks occurred in the regions C11q and D12q. The portions missing from the original chromosomes could not be found on any chromosome. Most patients with PV do not develop chromosomal abnormalities through the course of their disease; when such abnormalities appear (20q- in particular), they seem to result exclusively from radiation (and possibly chemo-) therapy. Thus, cytogenetic changes do not appear to play a crucial role in the genesis of PV.

Aged↗
PubMed1996

Incidence of chromosomal abnormalities in 153 pregnancies with ultrasound detected fetal abnormalities.

One hundred and fifty-three patients with fetal abnormalities diagnosed on ultrasound were karyotyped between January 1992 and December 1993. There were 19 (12.4%) fetuses with chromosomal abnormalities. The risk of chromosomal aberrations in the malformed fetuses were increased in the presence of intrauterine growth retardation (15.4%), oligohydramnios (20%) and polyhydramnios (25%). Fetal karyotyping is thus essential in the management of such pregnancies.

Chromosome Aberrations↗
PubMed1969

Chromosome abnormalities in patients treated with chlorpromazine, perphenazine, and lysergide.

In a chromosome study on leucocyte cultures made in 13 patients treated with chlorpromazine, 15 treated with perphenazine, and nine treated with lysergide, a significantly higher frequency of gaps, breaks, and hypodiploid cells in the patients treated with perphenazine and lysergide occurred compared with the 41 controls studied. It is concluded that if some drugs can induce major chromosome abnormalities, and less toxic alternatives are available, the latter should be used in preference.

Adolescent↗
PubMed2006

Increased frequencies of both chromosome abnormalities and SCEs in two sheep flocks exposed to high dioxin levels during pasturage.

During the past four years several livestock farms (sheep, cattle and river buffalo) in the provinces of Naples and Caserta (southern Italy) have been unable to sell their milk and other dairy products due to the levels of dioxins (17 different types) present in the milk mass exceeding the value permitted [3 pg/g of fat, as human WHO 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD or dioxin) equivalent]. While some farms, especially those showing relatively low levels of dioxins, have managed to reduce the dioxins in the milk below the permitted threshold by changing the diet, many, especially sheep farms, have failed to do so. Indeed, about 12,000 head of cattle, river buffaloes and sheep have so far been culled. In the present study, 34 and 42 sheep from two herds raised in the province of Naples (Acerra municipality) and where high levels of dioxins (50.65 and 39.51 pg/g of fat, respectively) were found in the milk mass, were cytogenetically investigated and compared with 20 sheep (control) raised 80 km away from the exposed area. Increases of both chromosome abnormalities (gap, chromosome and chromatid breaks) (17 and 8 times higher in the two exposed herds, respectively) and sister chromatid exchanges (SCEs) were found in both herds when compared with the control, and the differences were highly significant (P<0.001). No statistical differences were found when comparing the frequencies of aneuploid cells of exposed animals (16.4 and 17.8%) and control (17.9%). Furthermore, high levels of mortality and abnormal foetuses were recorded in one of the two farms when compared with the control.

Aneuploidy↗
PubMed2001

Contribution of comparative genomic hybridization and fluorescence in situ hybridization to the detection of chromosomal abnormalities in B-cell chronic lymphocytic leukemia.

BACKGROUND: B-chronic lymphocytic leukemia (B-CLL), the most common type of leukemia in Western Europe and the United States, is characterized by clonal chromosomal abnormalities detected in almost half of the studied patients. The precise determination of chromosomal changes helps to indicate the prognosis and to understand the pathogenesis of CLL. METHODS AND PATIENTS: We applied conventional cytogenetics (CC), FISH and comparative genomic hybridization (CGH) to the investigation of clonal abnormalities in 88 B-CLL patients at the time of diagnosis. RESULTS: By using CC of bone marrow cells without any stimulation, non-random chromosomal changes were found in 17 (19%) of 88 patients. The employment of FISH and CGH revealed chromosomal changes in additional 33 patients, thus increasing the detection rate of chromosomal abnormalities to 57%. The most common abnormalities detected in our patients included deletions of 13q in 16 cases (18%), followed by trisomy of chromosome 12 in 12 patients (13%), deletions of 11q in 10 patients (11%) and deletions of 17p in 10 patients (11%). A statistically significant correlation between higher disease activity and the presence of deletions 11q and 17p was observed. CONCLUSION: The addition of FISH and CGH to CC in 88 B-CLL patients improved the detection of clonal chromosomal changes from 19 to 57%. The most frequent chromosomal change was deletion of 13q14 (18%). Deletions of 11q23 and 17p13 were found in patients with higher clinical disease activity. Our results underline the importance of employing FISH and CGH techniques in CLL patients. CC without any stimulation has a low detection rate and is not suggested for detection of chromosomal changes in CLL.

Aged↗
PubMed1991

Failure of chromosomally abnormal sperm to participate in fertilization in the Chinese hamster.

The selection of chromosomally abnormal gametes was investigated in the Chinese hamster by direct chromosome analysis of meiotic cells and one-cell embryos obtained from crossing heterozygotes for two reciprocal translocations, T(1;3)7Idr and T(1;3)8Idr. Expected frequencies of male and female gametes with different chromosome constitutions were estimated by scoring of secondary meiotic metaphase (MII) cells in the translocation heterozygotes. The frequency of gametes with each karyotype that participated in fertilization was investigated in pronuclei from translocation heterozygotes in one-cell embryos obtained from crossing the heterozygotes with karyo-typically normal animals. Compared with the expected frequencies from MII scoring, the frequencies of male pronuclei having some karyotypes in one-cell embryos decreased significantly. The karyotypes of male pronuclei showing a decreased frequency were commonly characterized by a deficiency of the long-arm segment of chromosome 1 (q13----qter) or by a deficiency of almost the whole arms of chromosome 3. On the other hand, the frequencies of female pronuclei with the same karyotypes were all consistent with those estimated from MII scoring. These results suggest that sperm nullisomic for certain segments of some chromosomes may fail to participate in fertilization.

Animals↗
PubMed1991

Cytogenetic studies in acute promyelocytic leukemia: a survey of secondary chromosomal abnormalities.

A series of 105 patients with acute promyelocytic leukemia (APL) has been cytogenetically investigated at the Department of Hematology of the Saint-Louis Hospital (Paris) between 1977 and 1990. Sixty-two patients were examined at diagnosis, 32 in relapse, and 11 both at diagnosis and in relapse. The typical t(15;17)(q22;q12) or variants of this translocation were observed in all but four patients. The t(15;17) was the only change in 47 cases at diagnosis and in 21 examined in relapse. The most frequent secondary change was trisomy 8 (17% at diagnosis). More or less complex chromosomal abnormalities in addition to t(15;17) were present in six patients at diagnosis, and in 17 patients in relapse. Rearrangements of 2q35-q37 and del(11p) were observed only in relapse and may thus be nonrandom secondary changes. Cytogenetic studies performed on 19 patients treated with all-trans retinoic acid did not indicate that this treatment induces chromosomal abnormalities.

Adult↗
PubMed1987

Chromosome abnormalities in peripheral T-cell lymphoma.

We have studied neoplastic lymph nodes from six patients histologically, immunologically and cytogenetically. Histologically all the cases were classified as peripheral T-cell lymphomas. These were subclassified as T-zone lymphomas in three, large cell 'pale cell' variant in one, large cell immunoblastic in one, and small cell, mycosis fungoides in one. Two had features of angioimmunoblastic lymphadenopathy (AILD). Immunologically all cases expressed CD2 (OKT11) and CD4 (T4). All six cases had clonal chromosome abnormalities, although in four cases the majority of cells were chromosomally normal. Chromosome 3 was most often involved in abnormalities, occurring in five patients. The most common single chromosome abnormality, trisomy 3, was seen in all three cases classified as T-zone lymphoma and in no other cases. In the two cases with features of AILD only numerical abnormalities were seen, whereas in the other cases complicated structural rearrangements were present. Recurring structural abnormalities involved bands 1p12or13, 1q32, 3p25 and 14q11. Our data suggest that cytogenetic analysis may assist in diagnosis and classification of the peripheral T-cell lymphomas.

Aged↗
PubMed1990

Sex chromosomal abnormalities. Etiology, phenotypic expression, and the role of lyonization.

Individuals with sex chromosomal abnormalities have significantly better chances of leading normal lives than individuals with autosomal abnormalities. This is due, in part, to the role of lyonization in the genetic inactivation of X chromosomes. In contrast to earlier studies contaminated with subject ascertainment bias, prospective studies of individuals with SCA generally indicate a relatively normal profile with respect to overall intellectual capacity and psychopathology. Although some SCAs affect neuromotor, speech, language, cognitive and emotional development to some degree, it is noteworthy that none of the effects necessarily occurs and that some of the deficits are amenable to corrective intervention. Results from prospective studies also indicate significant genotype-environment interactions that can have important implications for intervention.

Dosage Compensation, Genetic↗
PubMed1997

Recurring structural chromosome abnormalities in peripheral blood lymphocytes of patients with mycosis fungoides/Sézary syndrome.

Cytogenetic analysis was performed on peripheral blood lymphocyte cultures from 19 patients with mycosis fungoides (MF)/Sézary syndrome (SS) stimulated with either phytohemagglutinin, a conventional mitogen, or a combination of interleukin-2 (IL-2) plus IL-7. The use of both PHA-stimulated and IL-2 plus IL-7-stimulated cultures enhanced the ability to identify clonal abnormalities. Clonal abnormalities were observed in 11 patients (53%) including one with monosomy for the sex chromosome as the sole abnormality. Five of the 11 patients with clonal abnormalities had normal peripheral white blood cell counts, indicating detectability of clones in the absence of frankly leukemic disease. The presence of clonal abnormalities correlated with advanced stage disease and a significantly reduced survival duration from the time of cytogenetic studies. Clonal abnormalities involving chromosomes 1 and 8 were observed in six cases. In five cases with aberrations of chromosome 1, loss of material involved the region between 1p22 and 1p36. In an additional case, a reciprocal translocation involving 1p33 was observed. Clonal abnormalities involving chromosomes 10 and 17 were observed in 5 cases, clonal abnormalities involving chromosome 2 in 4 cases, and clonal abnormalities involving chromosomes 4, 5, 6, 9, 13, 15, 19, and 20 in 3 cases. In 2 cases a der(8)t(8;17)(p11;q11) was observed. Regions of the genome that encode T-cell receptors were not involved in abnormalities. The region between 1p22 and 1p36 is identified as a region of the genome that requires detailed analysis toward the identification of potential gene(s) involved in the process of malignant transformation and/or progression in MF/SS.

Adult↗
PubMed1988

[A case of multiple myeloma (IgG, k) associated with hypertetraploid chromosomal abnormality].

A patient with multiple myeloma (IgG, k) associated with hypertetraploid chromosomal abnormality is reported. The patient was a 62-year-old female. She was admitted to our clinic in October 6, 1982 because of lumbago and a supraorbital subcutaneous tumor. Cellulose acetate membrane electrophoresis of her serum disclosed a M-protein in the gamma-globulin, and immunoelectrophoresis showed monoclonal IgG, k type. A marrow aspirate of her sternum contained 15% myeloma cells, some of which were large, while others were atypical. A chromosomal analysis of her bone marrow revealed 34 hypertetraploid cells of 35 metaphase cells. Chemotherapy was administered without success and she died of DIC and uremia on November 11, 1982. Histologically, pleomorphic myeloma cells that contained large cells with atypical nuclei proliferated in her bone marrow.

Bone Marrow↗
PubMed2002

Comparison of cytogenetic and molecular cytogenetic detection of chromosome abnormalities in 240 consecutive adult patients with acute myeloid leukemia.

PURPOSE: To prospectively compare cytogenetic and molecular cytogenetic analysis for the detection of the most relevant chromosome abnormalities in a large series of patients with acute myeloid leukemia (AML). PATIENTS AND METHODS: Two hundred forty consecutive adult patients with AML entered onto the multicenter treatment trial AML HD93 were studied. Chromosome banding and fluorescence in situ hybridization (FISH) applying a comprehensive set of genomic DNA probes were performed in a single reference laboratory. RESULTS: Two cases of inv(16), three cases of t(11q23), and three cases of t(8;21)var were only detected by molecular cytogenetics. By FISH, aberrations were identified in three cases with normal karyotypes: inv(16), -Y (in a patient with low metaphase yield on chromosome banding) and a 12p microdeletion. Additional aneuploidies, in particular +8q and +11q, were diagnosed by FISH; however, virtually all these aberrations occurred in patients with complex karyotypes or as an additional abnormality in leukemias with an AML-specific translocation. Finally, aberrations were detected by FISH in eight of 14 patients with no assessable metaphases. CONCLUSION: In most cases of AML, conventional cytogenetic study reliably detects chromosomal abnormalities, and this method should not be replaced by FISH. FISH should be used as a complementary method for the detection of more subtle abnormalities, such as inv(16) and t(11q23), in all patients with newly diagnosed AML and for suspected t(8;21)var. Furthermore, molecular cytogenetics using this comprehensive set of DNA probes provides a valuable diagnostic tool for patients with poor chromosome morphology, low or no yields of metaphase cells, or both.

Acute Disease↗
PubMed1967

Chromosomal abnormalities in leukocytes from LSD-25 users.

A significant increase of chromosomal abnormalities was found in leukocytes from LSD-25 users (six out of eight) compared to nonuser controls (one out of nine). The two LSD-25 users showing no damage reported the lowest estimated average dose. The subjects whose cells showed damage were tested between 1 day and 6 months after their last LSD-25 dose.

Chromosome Aberrations↗
PubMed2000

Hyaluronan in the nuchal skin of chromosomally abnormal fetuses.

Nuchal skin oedema at 10-14 weeks gestation, observed by ultrasonography as increased nuchal translucency (NT), is found in approximately 70% of fetuses with trisomies 21, 18 and 13 as well as those with Turner's syndrome. This study investigates the possibility that one mechanism for increased translucency is an altered composition of the skin with a higher concentration of hyaluronan; large amounts of hyaluronan can lead to excessive hydration of the extracellular matrix. We isolated the hyaluronic acid binding region (HABR) from aggrecan in the extracellular matrix of hyaline cartilage and used it in a biotinylated form in combination with a fluorescent probe as a marker for hyaluronan. Immunohistochemistry was then used to examine the nuchal skin of chromosomally abnormal and normal fetuses, obtained after termination of pregnancy. In fetuses with trisomy 21 there was a substantial increase in hyaluronan, whereas in trisomies 18 and 13 and Turner's syndrome the amount was similar to that in chromosomally normal controls. This finding suggests that hyaluronan may be implicated in the pathogenesis of increased NT in fetuses with trisomy 21, but the common phenotypic expression of increased translucency in different chromosomal abnormalities may be the consequence of other mechanisms.

Chromosome Aberrations↗
PubMed1991

Chromosomal abnormalities: experience at Harare Hospital.

A study of 107 cases with chromosomal abnormalities seen over a four-year period is presented. The commonest abnormality was Trisomy 21 which accounted for 37% of all cases. There were also many cases with intersex. The results of this study were similar to a previous one done in the same department a few years ago. All the patients seen in this study presented with similar features to those seen elsewhere in patients with these syndromes.

Adolescent↗