Cytogenetic findings in a primary adrenocortical carcinoma

Cytogenetic analysis of a primary adrenocortical carcinoma revealed clonal rearrangements of several autosomes and sex chromosomes. In all metaphases the following marker chromosomes were present: 4p+,t(3;12)(p14;p13),14q+, t(15;20)(p11;q11), t(5;18) (p13.3;p11.2), psu dic(18)t(18.3)(p11.39;p12), and psu dic(20)t(20;9)(q11.2;p11). The results are discussed in relation to the cytogenetic findings in other solid tumors, especially of the kidney.     

Cytogenetic findings in a case of pediatric glioblastoma.

We report a patient with glioblastoma multiforme (GBM) which showed stable and unstable telomeric associations involving the short arms of chromosomes 4 and 7. The karyotype was hyperdiploid, with chromosome numbers ranging from 84 to 87 in all cells, and showed a single stemline with variations in the number of marker chromosomes, teleomeric associations, and double minutes (dmin). The karyotype designation is 83-86,XX,-X,rea(X),-4,tas(4;7)(p16;?p22),der(6)t(6;?)(p21;?), -8, -9, der(9)t(9;?)(?p11;?), dup(9)(p12p23), -10 x 2, del(10)(p11), -11,del(11)(p11), -12, der(12)t(12;?) (p13;?),-13, -14 x 2,der(14)t(14;?) (p11;?), -16 x 2, -19, -21 x 2, -22 x 2, + 9-13mar, + dmin. Loss of the short arm of chromosome 10, structural aberrations of the short arm of chromosome 9, and dmin are consistent findings in GBM, whereas the high chromosome number is less common. Chromosome instability associated with the phenomenon of telomeric association/fusion has not been reported in GBM.     

Cytogenetic findings in blastoid mantle cell lymphoma

A subset of mantle cell lymphoma (MCL) tumors has blastoid morphology, and a number of morphologic variants of blastoid MCL have been described in the literature. In this report, we document the cytogenetic findings in 27 cases of blastoid MCL. Conventional cytogenetic analyses were performed on bone marrow aspirates involved by MCL from 27 patients. There were 14 men and 13 women with a median age of 63 years (range, 40-79 years). Diagnostic tissue biopsy and bone marrow specimens were reviewed, and cases were divided into 2 morphologic groups: classic (12 cases) and pleomorphic (15 cases), as defined in the World Health Organization classification. All tumors had an immunophenotype compatible with MCL, were positive for cyclin D1, and carried the t(11;14). Twenty-four cases had complex karyotypes with 3 or more chromosomal abnormalities in addition to the t(11;14). In classic blastoid MCL, abnormalities of chromosomes 13, 18, and 8 were most common. In pleomorphic blastoid MCL, abnormalities of chromosomes 13, 17, and 3 were most frequent. Chromosome 22 abnormalities were detected exclusively in the pleomorphic group. Tumors in which the neoplastic cells showed prominent nucleoli had a significantly higher frequency of chromosome 17 abnormalities (P = 0.03). We conclude that blastoid MCL tumors often show complex cytogenetic aberrations. Some abnormalities correlate with morphologic features, suggesting that morphologic variants of blastoid MCL may arise via different molecular pathways.     

Cytogenetic and molecular studies of a familial renal cell carcinoma.

In a previously studied family with inherited renal cell carcinoma (RCC), RCC was shown to segregate with a constitutional balanced t(3;8)(p14.2;q24.1). In addition, we recently showed that in a RCC tumor from this family the constitutional translocation became unbalanced, suggesting a genetic mechanism that may be associated with the primary genetic events of tumorigenesis. We now report that the RCC tumor cells from this case showed additional cytogenetic alterations, possibly related to tumor progression, which include an additional tumor-specific translocation involving band 14 of chromosome 13. Because this band contains the retinoblastoma (RB) gene, we examined the tumor for aberrations in the RB gene using DNA sequence polymorphism analysis and pulsed-field gel electrophoresis (PFGE), but did not detect alterations in the RB gene.     

Cytogenetic findings in cervical carcinoma. A statistical approach

Cytogenetic analysis with banding techniques was attempted in 150 cervical carcinomas, including in situ carcinoma, large cell keratinizing tumors, large cell nonkeratinizing tumors, small cell nonkeratinizing tumors, and adenocarcinomas. Monte Carlo simulations were used to determine which numerical and structural aberrations were nonrandomly involved in the tumorous process and to attempt to correlate specific abnormalities with specific histologic types. Results showed that several chromosomes are nonrandomly involved in cervical carcinomas and that some are more specifically associated with particular histologic subtypes. Therefore, cervical carcinoma appear to include a large spectrum of malignancies, each particular histologic type involving different genes. If some cytogenetic changes may be considered general events related to the carcinogenesis process, other rearrangements are presumably more specific processes arising in more committed stem cells.     

Cytogenetic abnormalities in non-small cell lung carcinoma: Similarity of findings in conventional and feeder cell layer cultures

Primary tumors from 39 patients with non-small cell lung carcinoma (NSCLC) were examined for cytogenetic abnormalities by conventional short-term harvest (1–39 days) of primary cultures of minced solid-tumor tissues and by harvest of monolayer cultures of tumor tissue (6 days to 5 months) on murine fibroblast feeder layers. A successful karyotype was obtained with both methods in nine of 39 cases. Among the remaining 30 cases, a successful karyotype was obtained in eight cases by the conventional method only and in three cases by the feeder cell method only. The success rates were 44% for the conventional method, and 31% for the feeder cell method, and the combined success rate was 51% for one or the other method. The feeder culture method, in which harvests were usually performed at later times than with the conventional method, generally produced metaphases with superior banding, which allowed clearer definition of cytogenetic abnormalities. In addition, cell lines were established in eight of these cases by the feeder cell method. Karyotypes from the longer-term harvests typically were very similar to those from short-term conventional cultures. Minor numerical differences and/or a few additional structural abnormalities were noted in seven of the nine cases analyzed by both methods. Overall, however, even in karyotypes from 5-month cultures, the prominent recurrent changes and modal chromosome numbers observed in short-term cultures were still present. The results indicate that long-term culture with fibroblast feeder cells is a valid means of obtaining cells from solid lung tumors for cytogenetic and molecular analysis. Cell lines established by this method will be useful in future molecular studies, for example, for mapping of chromosome breakpoints and sites of chromosome loss, for in situ hybridization, and for studies of the expression of critical candidate genes implicated by cytogenetic findings. In addition, by combination of conventional and feeder cell harvests, both the number of primary tumors successfully examined karyotypically and the quality of the analyses are improved.© 1993 Wiley-Liss, Inc.     

Cytogenetic findings in acute monocytic leukemia in a renal allograft recipient

Chromosome analysis of bone marrow cells from a patient with acute monocytic leukemia, who had had a renal transplant followed by immunosuppressive treatment 45 months prior to the onset of leukemia, showed an unusual karyotype: 48,XX,+8,+8, t(1q12----pter::11q12----qter), t(4p12----qter::6p11----pter),t(7p22----qter::12q23 ----qter?), t(1q11----qter::17p11----11qter).     

Cytogenetic findings in five patients with hairy cell leukemia

We studied five cases of hairy cell leukemia (HCL) using conventional cytogenetics. All patients were diagnosed with typical HCL. Chromosome analysis was carried out on a 72-hour culture of peripheral blood. Phytohemagglutinin (PHA) mitogen was used. Clonal chromosome abnormalities were found in 2/5 patients (40%), a complex abnormality being identified in one of them. The chromosomes involved were: 1, 6, 7, 8, and 17. No patient showed trisomy 12 or a 14q+. An interesting result was the finding of del(7)(q32) as a sole anomaly.     

Cytogenetic findings in a case of anaplastic carcinoma of the pancreas

A cytogenetic study was performed on a short-term culture of a biopsy from a primary anaplastic carcinoma of the pancreas. The modal chromosome number was 60. Six numerical clonal anomalies involving chromosomes #2, #6, #7, #10, #15, and #16 were found, and marker chromosomes involving #1, #3, #5, #8, #11, #12, #13, #15, #16, #18, #20, #22, and X. Premature chromosome condensation (PCC) was observed with a high frequency. The results are discussed with reference to the scarce literature on chromosome changes in pancreatic cancer.     

Cytogenetic findings in cell lines derived from four ovarian carcinomas

Six cell lines, established from four primary ovarian carcinomas were examined cytogenetically. The lines varied greatly in their chromosome complement. All cells from the lines were aneuploid, although one cell line contained two populations having a pseudodiploid and a pseudotetraploid modal chromosome number. Every chromosome group was involved with loss and gain of chromosomes, but some individual chromosomes were more prone to aneuploidy than others. Chromosome #6 was the most stable throughout. Structural changes gave rise to many marker chromosomes. Although most markers were random and the majority unidentifiable, some abnormalities of clonal origin were found. Deletions especially of chromosome #1, were the most common change. Further sequential studies may elicit the origin, stability, and timing of the chromosome abnormalities.     

Cytogenetic study of a Merkel cell carcinoma

Banded karyotypes from two metastatic sites of a Merkel cell carcinoma were analyzed. The results indicate very close similarity between the two specimens including an overall tendency to triploidy and the same five marker chromosomes. One of the markers represented by two copies in most of the karyotyped cells was 1q−.     

Cytogenetic studies of esophageal carcinoma cell lines

Although the incidence of cancer of the esophagus is low in the United States, the prognosis of patients with this malignancy is poor, especially when metastases exist. More research concerning the biological characteristics of this tumor is necessary to permit more effective treatment and to determine the etiology. We successfully studied cytogenetically 14 short- and long-term cell lines derived from esophageal carcinoma to determine whether these tumors have nonrandom, unique chromosomal abnormalities. Our results showed that the tumor cells had chromosome numbers clustering around a modal number that varied according to the cell line. The presence in the primary explant of extensive numerical and structural abnormalities involving every chromosome including the sex chromosomes indicate that these abnormalities occur early in the malignant cells. The chromosomes most frequently involved in the structural abnormalities were 1, 9, and 11, each occurring in 13 of the 14 lines, and of three found in 12 of the 14 lines. The major aberrations resulted in deletions of portions of these chromosomes. The most frequent breakpoints for these abnormalities occurred at 3p14, 11q11q12; and 9q11q12 as well as in the centromeric regions of all the acrocentric chromosomes. Another unusual chromosomal marker found in three lines (HCE-1, HCE-3, and HCE-5) was a homogeneously staining region (HSR) that occurred as an extension on 11q12.     

Cytogenetic findings in pediatric adipose tumors: Consistent rearrangement of chromosome 8 in lipoblastoma

Characteristic cytogenetic aberrations have been reported in adult lipomas and liposarcomas, but few karyotypes have been reported for pediatric adipose neoplasms. In this report we describe a consistent rearrangement, der(8)(pter→q13::q24.1→qter), in 2 of 3 lipoblastomas. A similar der(8) was present in the only other published lipoblastoma karyotype, but this der(8) has not been reported in lipomas, liposarcomas, or nonadipose solid tumors. We investigated the potential specificity of der(8)(pter→q13::q24.1→qter) by karyotyping an unselected series of nonlipoblastoma adipose tumors in children and young adults. The series included 14 lipomas, 2 atypical lipomas (“well-differentiated liposarcomas”), and 2 angiomyolipomas; der(8) was not found in any tumor from this series. Three lipomas, however, contained rearrangements in the region of chromosome band 12q14, as has been described frequently in adult lipomas. Because clinical features in lipoblastoma can mimic those in liposarcoma, recognition of der(8)(pter→q13::q24.1→qter) is of potential diagnostic relevance. © 1993 Wiley-Liss, Inc.     

Cytogenetic analysis of 19 renal cell tumors]

To further evaluate the role of cytogenetic analysis we studied 19 cases of renal neoplasms. Specific chromosomal aberrations have been demonstrated associated with different histologic types. Particularly, clear cell renal cancers were associated with deletions of the short arm of chromosome 3 and papillary renal cell cancers demonstrated multiple trisomies, and chromophobe cancers and oncocytomas were characterized by loss of whole chromosomes. The utility of cytogenetics as a tool to define the pathological spectrum of renal cell neoplasms is stressed.     

Cytogenetic findings in a malignant melanoma and its derived cell line

A cell line, MEL #26, was established from a metastatic solid tumor specimen obtained from a patient with malignant melanoma. Cytogenetic analyses were performed on both the fresh biopsy specimen (using short-term culture; 2 days) and an established cell line at three different passages. The chromosome number of the fresh biopsy specimen was in the near-triploid range and the chromosome number of the cell line was tetraploid. Three stable marker chromosomes involving #1, #6, and #7 were observed both in the original tumor and cell line. The marker chromosomes involving #1 and #7 were consistently present in all passages of this line, whereas, i(6p) was not present in every metaphase; a 15p+ marker completely disappeared after passage 20. Based on the results of the present study, we conclude that exclusive of one marker chromosome, the nonrandom chromosome changes seen in the original tumor were retained by the cell line and no particular additional clonal changes occurred during in vitro growth and establishment of this cell line. These considerations are of importance in the interpretation of results of various other studies that have been (or could be) performed with this cell line.     

Myospherulosis in renal cell carcinoma

OBJECTIVE: To study retrospectively the identification, characteristics, and localization of myospherulosis in different types of renal cell carcinomas. DESIGN: Twenty-seven consecutive renal cell carcinomas treated by radical nephrectomy in 1 year were studied. All the tumor and nontumor slides were examined for myospherulosis. The demographic data, histological type of renal cell carcinoma, Robson stage, and Fuhrman grades were recorded. RESULTS: Myospherules were found in 10 cases. They were associated with the clear cell type and a higher nuclear grade. The cell type remained the only significant factor when these 2 factors were tested together with the tumor stage by logistic regression. Myospherulosis tended to be found in younger patients but was not associated with the sex or the side of the tumor. They were scattered within tumor cystic spaces or among sheets of tumor cells. Some of the myospherules might arise from histiocytes or even tumor cells. Compared with previous reports of myospherulosis associated with exogenous or endogenous lipid, the myospherules associated with renal cell carcinoma were smaller and more uniform in size. There is no associated fibrosis or foreign body giant cell reaction. CONCLUSION: As far as we know, this is the first report of myospherulosis occurring in malignant tumors in human, and their associated features are different from those previously described for myospherulosis related to exogenous or endogenous lipid.     

Cytogenetic findings in benign cartilaginous neoplasms

Cytogenetic analysis has improved our understanding of the histopathogenesis of many benign and malignant bone and soft tissue tumors, as well as served as an important diagnostic adjunct for these pathologic entities. Cytogenetic reports of benign cartilaginous tumors, however, are relatively few. This is unfortunate, as distinguishing benign and malignant cartilaginous neoplasms can often be difficult. In this study, the cytogenetic findings of two enchondromas, two periosteal chondromas, and one soft part chondroma and a review of the literature are reported. Abnormal diploid or near-diploid clones were detected in all specimens analyzed. Although a tumor-specific anomaly did not emerge from these studies, involvement of certain chromosomes/chromosomal regions appears recurrent.     

Cytogenetic findings in uterine epithelioid leiomyomas

Epithelioid leiomyomas of the uterus, unlike ordinary leiomyomas, show substantial epithelial differentiation. No chromosome abnormalities have been reported in uterine epithelioid leiomyomas before. We analyzed short-term cultures from five such tumors and detected abnormal karyotypes in four. A del(7) (q21.2q31.2) was found in two tumors, in one as the only change and in the other as a secondary aberration acquired during clonal evolution. Rearrangement of chromosomal band 12815, another of the cytogenetic hallmarks of ordinary uterine leiomyomas, was seen in the form of a t(10;12) in one tumor. Band 17q21 was involved in structural aberrations in two cases. The data we present indicate that epithelioid leiomyomas are fundamentally similar cytogenetically, and hence presumably also pathogenetically, to the much more common smooth muscle-differentiated uterine myomas. The only differences hinted at are that epithelioid tumors may be karyotypically more complex and more often have rearrangements of 17q21.