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PubMed1992

Longitudinal cytogenetic study of metaphase and interphase cells in childhood monosomy 7 syndrome.

A 15-year-old male with myelodysplastic syndrome (MDS) characterized by monosomy 7 was cytogenetically evaluated by metaphase karyotyping and fluorescence in situ hybridization (FISH) of interphase cells at six different points during the course of his disease. At diagnosis, there was complete agreement between metaphase and interphase findings. Interphase analysis alone provided important cytogenetic information on the first specimens received following intensive combination chemotherapy and bone marrow transplantation where metaphase analyses were uninformative. The detection of a minor post-treatment monosomy 7 population by interphase but not metaphase studies may have identified minimal residual disease prior to recurrence of MDS. From this longitudinal study, it is concluded that metaphase and interphase cytogenetic analyses form complementary approaches and that use of both provides greater analytical power when appropriate chromosome markers are available.

Adolescent↗

PubMed1992

Cytogenetic analysis of six renal oncocytomas and a chromophobe cell renal carcinoma. Evidence that -Y, -1 may be a characteristic anomaly in renal oncocytomas.

Renal oncocytomas are benign tumors whose morphologic features may sometimes be confused with those of certain low-grade malignant neoplasms of the kidney, e.g., chromophobe cell and granular cell variants of renal carcinoma. The presence of a specific genetic abnormality might help differentiate these tumors. Because very few cytogenetic studies of renal oncocytomas have been published, we investigated a consecutive series of six such tumors. We also performed chromosome analysis on a chromophobe cell carcinoma because cytogenetic analyses of this tumor have not been previously reported. Tumor cell metaphases were analyzed after mechanical and enzyme disaggregation, in situ culture, and robotic harvesting. Clonal abnormalities were present in five of the six oncocytomas, and loss of chromosome 1 with loss of the Y chromosome occurred in two. Review of the literature disclosed four other renal oncocytomas with the 44,X,-Y,-1 karyotype. In the chromophobe cell carcinoma, we noted an abnormal clone with a del(11)(p12p15.1); similar anomalies were not observed in the renal oncocytomas. We conclude that renal oncocytomas have clonal chromosome abnormalities and that a subgroup of these tumors may be specifically associated with loss of chromosomes 1 and Y. Because this is a small series, further investigation may help establish whether cytogenetic studies can provide diagnostic and pathogenic information about renal oncocytomas.

Adenoma↗

PubMed1993

Cytogenetic findings in 18 follicular thyroid adenomas.

Cytogenetic study of 18 follicular thyroid adenomas showed clonal chromosome changes in 12 tumors. These results suggest the existence of at least three cytogenetically distinct subgroups: a hyperploid group characterized by the presence of a cluster of numerical changes including +5, +7, and +12 as the most frequent anomalies and, less frequently, +4, +9, +14, +16, and +17; a pseudo- or near-diploid group characterized by simple karyotypic aberrations; and a cytogenetically normal group.

Adenoma↗

PubMed1993

Gliosis specimens contain clonal cytogenetic abnormalities.

The relevance of sex chromosome aneusomy and trisomy 7 in neoplastic brain tissue is controversial. For better understanding of the relative importance of these anomalies, we made a conventional cytogenetic study of cells from tissue obtained from patients who underwent partial cerebral resection for a seizure disorder. Each specimen exhibited "gliosis," but none contained histologically identifiable tumor cells. Sixty-six specimens were analyzed by routine cytogenetic methods. Nonclonal abnormalities were observed in 11.6% of the cells (86% of cases) analyzed. In 11 cases, however, simple clonal karyotypes were observed. Of these cases, six involved loss of a Y chromosome and three involved loss of an X chromosome. Among the cases with loss of an X chromosome, two exhibited multiple abnormal clones. One of these cases had trisomy 7 as well as trisomy 18, and another had a supernumerary psu dic(15)(q13). The supernumerary chromosome was constitutional. One patient had possible Klinefelter syndrome. An additional case had a clonal del(10)(q23) that may have resulted from a hereditary fragile site. We conclude that although some of the apparently acquired clonal and nonclonal abnormalities may be due to a consistent in vitro artifact, it is probable that they are present in the brain tissue itself. Whatever the cause, caution should be used in interpretating cytogenetic abnormalities observed in brain tumor specimens.

Adolescent↗

PubMed1993

Clinical and cytogenetic significance of myelodysplastic syndromes with disease evolution.

We performed a retrospective study of 83 patients with myelodysplastic syndrome (MDS) to clarify the clinical and cytogenetic implications of disease evolution. Twenty-three patients showed disease progression; six of the 11 patients whose disease evolved within 100 days showed complex cytogenetic aberrations and most of them died within 300 days. Of the patients who survived more than 300 days, those with high bone marrow (BM) blast percentages experienced significant disease progression, but we noted no cytogenetic indicators for disease evolution at the later phase. Sixty percent of patients showing karyotypic evolution without disease evolution had deletion-type chromosome changes. The most frequent anomaly in patients with disease evolution who survived more than 300 days was an additional numerical change, whereas patients with disease evolution who survived less than 300 days showed karyotypic instability. It was difficult to predict disease progression for patients whose disease evolved more than 300 days after diagnosis, but in some patients the presence of additional numerical changes was related to disease progression. The cutoff level of early disease evolution was 100 days after diagnosis, and most patients with complex abnormalities survived less than 300 days with or without disease evolution.

Adult↗

PubMed1993

Cytogenetic findings in eleven gastric carcinomas.

We describe the results of the cytogenetic study of 10 primary adenocarcinomas of the stomach and one lymph node metastasis of a gastric adenocarcinoma after direct harvesting or short-term in vitro culture. All cases showed a variable number of numerical and/or structural clonal cytogenetic aberrations. Polysomy of chromosomes 2 and 20 were the most common numerical abnormalities. Rearrangements of chromosomes 1, 3, 7, and 13 were each observed in more than half the cases. Chromosomes 3 and 13 were the chromosomes more often exhibiting structural cytogenetic aberrations. In five tumors, rearrangements of chromosome 6 resulting in partial deletion of 6q were noted (common deleted region 6q21-22-->qter). The recurrent markers observed in our series were an i(8q) and an i(17q) in three and two cases, respectively. Double minutes (dmin) or homogeneously staining regions (hsr) were evident in three tumors. Contrary to the recent claim that structural abnormalities affecting 11p13-p15 were specifically involved in gastric cancer, we detected rearrangements of this region in only two cases.

Adenocarcinoma↗

PubMed1993

Identification of hyperdiploidy in fixed cells from pediatric acute lymphoblastic leukemia cases using flow cytometry and cytogenetic analysis.

Cytogenetic analysis is of value in predicting clinical outcome of pediatric cases of acute lymphoblastic leukemia (ALL). Hyperdiploidy in these patients has significant impact on therapeutic outcome. Because of the technologic limitations of cytogenetic analysis in determining hyperdiploidy in some of these cases, we devised a method to analyze cytogenetically fixed material for cellular DNA content by standard flow cytometric methods. This technique greatly enhances out ability to interpret the observance of single cell anomalies and assess whether these cells are predictive of clonal stemlines or are a result of random events.

Adolescent↗

PubMed1993

Deletion 7q22 in uterine leiomyoma. A cytogenetic review.

The cytogenetic patterns of uterine leiomyomas have been extensively investigated, and cases characterized by specific clonal changes have been documented in detail. In these tumors one of the cytogenetic changes frequently observed has been a del(7), particularly del(7)(q22), usually as a sole anomaly. This is confirmed by our experience and by reports in the literature. The fact that del(7) is one of the most common abnormalities in leiomyoma raises the question of its role in tumor development. The main purpose of this review is to analyze the above aspect and to interpret its possible meaning. Our findings on cytogenetic abnormalities of chromosome 7 in leiomyoma, together with those reported in the literature, are reviewed and discussed. A listing of the genes located at 7q22 is also presented.

Chromosome Deletion↗

PubMed1995

Clonal evolution of an immunoblastic type non-Hodgkin's lymphoma with der(6)t(1;6)(q11;p11) as its primary cytogenetic abnormality.

Recurrent pleural effusions from a 45-year-old man who was diagnosed as having non-Hodgkin's lymphoma of immunoblastic type were studied cytogenetically. The majority of the metaphases were tetraploid, but there were also lymphoma cells observed with pseudodiploid chromosome constitutions. Cytogenetic analysis by G-banding revealed the existence of at least two cell populations. The karyotype of the minor pseudodiploid clone, which exhibited partial trisomy of 1q11qter and monosomy of 6p11pter as sole abnormalities, was 46,XY,der(6)t(1;6)(q11;p11). The karyotype of the major clone was 92,XXYY,-1,der(6)t(1;6)(q11;p11)x2, +9. The ancestral diploid clone, carrier of the balanced translocation involving chromosomes 1 and 6, was not observed even in the first pleural effusion harvest. The high proportion of tetraploid cells in the recurrent effusions was an indication that these cells were favorably selected in the environment of the somatic cavity. Our cytogenetic findings suggest that partial trisomy of 1q may be a crucial secondary chromosomal abnormality in highly malignant non-Hodgkin's lymphoma. This genetic imbalance was predetermined from the primary abnormality and may be responsible for further tumor progression, as suggested from the clonal evolution in this particular case and, therefore, may be associated with the aggressive biologic behavior of malignant cells.

Chromosome Aberrations↗

PubMed1995

Cytogenetics of gastric and esophageal adenocarcinomas. 3q deletion as a possible primary chromosomal change.

We report clonal chromosome abnormalities in short term cultures of seven gastric or esophageal adenocarcinomas and two squamous carcinomas of the esophagus and EG junction. The most consistent aberration encountered was a del(3) (q13.2q23) seen in six of nine tumors. This finding, together with a survey of published cytogenetic literature, suggested that del(3q) is the most common cytogenetic abnormality, and hence possibly of primary significance, in these tumors. In addition to del(3q), rearrangements affecting 1p13 (two cases), 6q15-q23 (two cases), 7p22 (two cases), 7q22 (two cases), and 11p11.2-p14 (three cases) were seen. Cytogenetic evidence for gene amplification in the form of homogeneously staining region (hsr) was seen at 9q13 in two cases.

Adenocarcinoma↗

PubMed1995

Cytogenetic and flow cytometric analysis of a pancreatoblastoma.

A pancreatoblastoma from a 4-year old male was examined by flow cytometric ploidy analysis and cytogenetics. To detect differences within the tumor, the specimen was divided into four portions and sampled separately. Flow analysis revealed that each sample contained a diploid and a tetraploid population of tumor cells. These findings correlated well with the cytogenetic analysis, which also revealed differences in structural rearrangements between samples. A t(13;22)(q10;q10) was the only rearrangement found in near-diploid cells as well as one near-tetraploid line. Other common structural changes in near-tetraploid cells included t(13;13)(q10;q10), i(6p)(p10), and del(1). Chromosomes 1, 6, 13, and 22 were consistently missing from all near-tetraploid cells lines. To our knowledge, this is the first flow cytometric and cytogenetic study of a pancreatoblastoma.

Child, Preschool↗

PubMed1995

Cytogenetics of twelve cases of uveal melanoma and patterns of nonrandom anomalies and isochromosome formation.

We present cytogenetic data of 12 new cases of uveal melanoma. One case showed a hypotetraploid chromosome number; the others were near-diploid. Underrepresentation or monosomy of chromosome 3 as well as multiplication of chromosomes 8, 8q, or regions of 8q was found in five cases. Both anomalies were observed in three cases. In two of these, multiplication of 8q resulted from isochromosome formation. The smallest multiplicated region seemed to be 8q23-24-->qter. Chromosome 6 anomalies were found in five cases without monosomy 3. Aberrations of chromosome 21 were seen in five cases and found to be the only cytogenetic change in two of them. These anomalies may define a subgroup of uveal melanoma. An anomaly of chromosome 1 was found in three cases. Anomalies of other chromosomes were detected in at most two cases each. Nonclonal centromeric or telomeric associations were seen in one case and different nonclonal ring chromosomes in another. Underrepresentation of chromosome 3 was seen exclusively in tumors with ciliary body involvement, while anomalies of chromosome 6 were detected only in pure choroideal melanomas. A review of the published cytogenetic data of untreated uveal melanoma supports our finding that monosomy 3 is frequently associated with multiplication of 8q but rarely with anomalies of chromosome 6, whereas the opposite is true for tumors with disomy 3, and that isochromosomes are closely associated with monosomy 3. Thus, cells with monosomy 3 seem to predispose to isochromosome formation.

Adult↗

PubMed1994

Cytogenetic intratumor heterogeneity in soft tissue tumors.

Multiple (two to seven) samples, obtained from the same surgical specimen or at different occasions, were analyzed in 54 benign and malignant soft tissue tumors, to investigate cytogenetic clonal evolution. In 28 tumors only normal karyotypes were found. Ten tumors had abnormal karyotypes, but were noninformative, most often due to a high level of karyotypic complexity or great cell-to-cell variation. Sixteen tumors were informative: four (leiomyosarcoma, liposarcoma, malignant Schwannoma, and a benign mesenchymal tumor, probably leiomyoma) had identical karyotypes in different samples, whereas the remaining 12 tumors (seven malignant fibrous histiocytomas [MFH], two leiomyosarcomas, two liposarcomas, and one synovial sarcoma) displayed intersample heterogeneity. Also, intrasample heterogeneity was detected; more than one clone was found in 21 of 73 samples with aberrations from 26 tumors. The different clones were related in all cases except two. In seven cases, samples from different occasions were studied, and clonal evolution could be evidenced in five of them, whereas in two cases the karyotypes remained unchanged. The results indicate that the acquisition of ring chromosomes is an early event in the development of MFH and possibly also pleomorphic liposarcoma. The findings, together with previous data, also indicate that rearrangements of 19p13 are late events in the progression of pleomorphic sarcomas. The overall conclusion from this study is that cytogenetic heterogeneity is common in soft tissue tumors, and that this might influence the evaluation of cytogenetic and molecular genetic findings.

Adult↗

PubMed1994

Cytogenetic data in 41 patients with multiple myeloma. Karyotype and other clinical parameters.

Cytogenetic data of 41 patients diagnosed with multiple myeloma (MM) are reported. In all samples, cytogenetic studies were made of short-term and B-cell-stimulated culture: 20 cases (48.8%) showed chromosome abnormalities; 14 karyotypes were hypo- or pseudodiploid, and six were hyperdiploid. The most frequent numerical changes affected chromosomes 7, 11, 5 (gains), 14, 20, and Y (losses). Chromosome structural rearrangements of 22q were noted in six patients. Other and recurrent cytogenetic abnormalities were changes involving chromosomes 1, 14, and 17. A significant relation was observed between presence of chromosome abnormalities and the following hematologic parameters: clinical stage III (p = 0.0212), bone marrow (BM) plasma cell infiltration greater than 30% (p = 0.0379), presence of bone lesions (p = 0.0051), and beta 2-microglobulin levels greater than 4,000 md/dl (p = 0.0194).

Adult↗

PubMed1994

Sequential cytogenetic study of patients after bone marrow transplantation.

Thirty-one patients (19 males and 12 females; mean age 23.9 years, range 4-41 years) were treated with bone marrow transplantation (BMT) after intensive chemoradiotherapy. Their diagnoses were as follows: chronic myeloid leukemia (CML) in 13, acute myeloid leukemia (AML) in seven, acute lymphocytic leukemia (ALL) in six, myelodysplastic syndrome (MDS) in two, aplastic anemia (AA) in two, and Fanconi anemia (FA) in one. Allogeneic BMT was performed in 28 cases (17 donors were of like sex, 11 were of unlike sex), one patient received syngenic transplant, and one received transplant of cells obtained from an unrelated donor through a computerized international registry in London. Autologous BMT was performed in three patients. BM cells were analyzed cytogenetically at diagnosis, before and serially after BMT (three to nine times). Follow-up ranged from 2 to 55.5 months. Cytogenetic examination was a very useful method for monitoring posttransplantation course in patients with CML or in those who received BM cells of unlike sex. Results of concomitant cytogenetic examinations are reported in detail.

Adolescent↗

PubMed1994

Cytogenetic triclonality in acute myeloid leukemia: a morphologic, immunologic and in situ hybridization study.

Cytogenetically unrelated clones are uncommon in hematologic malignancies. We report a case of acute myeloid leukemia, which consisted morphologically of two populations of small and large blasts demonstrating immunophenotypic heterogeneity. Cytogenetic analysis showed 3 karyotypically abnormal clones: 47,XY, +14/45,XY,dic(5;17)(q11;p11),14dmin, and a near-tetraploid clone. In situ hybridization showed that the near-tetraploid clone corresponded to the large blasts, and the near-diploid clones the small blasts, therefore demonstrating a direct relationship between cell size and DNA content. The diverse morphologic, immunologic and cytogenetic heterogeneity observed in our case suggested hematopoietic oligoclonality.

Aged↗

PubMed1994

Involvement of erythrocytic and granulomonocytic lineages by trisomy 11 in two cases of acute myelomonocytic leukemia with trilineage myelodysplasia. An interphase cytogenetic study.

To study the cytologic profile and lineage involvement in acute myeloid leukemia (AML) with trisomy 11, cytologic, cytogenetic, and interphase cytogenetic studies were performed at presentation in two cases of acute myelomonocytic leukemia (AML-M4). Patient 1 had +11 as the sole chromosome aberration in 16/20 karyotypes whereas two related clones with +11 in all abnormal metaphases (14/18) were detected in patient 2. A proportion of interphase cells with three signals, comparable to the proportion of abnormal metaphases, was detected by fluorescent in situ hybridization (FISH) in these patients. Morphologic aberrations of the nonblast cell population affecting multiple cell lineages, along with a circulating minor megakaryoblastic component, were observed at diagnosis in both patients. By separation of bone marrow cells over a density gradient of Percoll two cell fractions were obtained, the former containing more than 80% erythroid precursors (collected at a density of 1065-1075 mg/ml), the latter containing more than 78% blast cells plus granulomonocytic precursors (collected at a density of 1060-1055 mg/ml). FISH documented the presence of a majority of interphase nuclei with three signals in the erythroblast-enriched cell fraction and in the blast-enriched cell fraction. It is concluded that cytologic features, as well as interphase cytogenetic findings on enriched cell fractions, suggest the occurrence of multipotent stem cell involvement in AML-M4 with +11.

Adult↗

PubMed1995

Cytogenetic analysis of thyroid tumors after cryopreservation.

Current cytogenetic evaluation of solid tumors is performed on fresh tissue specimens requiring on-call tissue culture facilities. The application of cryopreservation to tumor samples prior to cytogenetic analysis allows collection of tumors to a desired sample size. We evaluated methods of cryopreservation for their effects on growth potential from 11 benign thyroids and one papillary thyroid cancer. Mitotic indices and thyroglobulin expression applying imunocytology were analyzed. Compared to fresh tumors, the revived tumor samples showed unaltered thyroglobulin expression. A statistically significant (p < 0.004) prolongation to develop mitotic activity occurred in samples received after the freezing of dispase digested tissues, but not in samples frozen as thinly cut pieces. In addition, the data show that cytogenetic analysis at the 400-band level can be achieved in cryopreserved thyroid tissues.

Carcinoma, Papillary↗