摘要:

AbstractWe performed cytogenetic analyses of peripheral blood lymphocytes from 82 Midwestern B‐cell chronic lymphocytic leukemia (B‐CLL) patients. The cells were cultured with mitogens for 3‐4 days. At least 15 metaphase cells were analyzed in 79 (96%) cases. Fifty (63%) of the 79 patients had clonal chromosomal alterations. Structural modifications of the long arm of chromosome 13 at or near band 13q14 were the most frequent abnormalities, identified in 23 (46%) of the patients with clonal abnormalities. In several patients, the abnormality involving band 13q14 was the sole chromosomal alteration. There was a high incidence of complex karyotypes. Nine patients had multiple subclones that appeared to result from clonal evolution; seven patients had cytogenetically unrelated clones; three patients had both subclones and cytogenetically unrelated clones. Nonclonal abnormalities were also prominent. Our study confirms the high incidence of clonal abnormalities involving chromosome arm 13q and documents the clustering of abnormalities at band 13q14 in B‐CLL. The evidence for clonal evolution and the presence of multiple unrelated clones in these patients suggest that B‐CLL may not be a karyotypically stabl

ISSN:1045-2257    

DOI:10.1002/gcc.2870040402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe have previously described a murine mammary tumor cell line (SP1) that metastasizes when transplanted into the mammary gland, but not when injected into the subcutaneous site. We used cytogenetic markers to assess genetic heterogeneity, and to monitor the selection and evolution of karyotypically distinct cell types during primary tumor growth and in metastases. The SPI tumor cells are hypotetraploid (mean chromosome number = 72), and have at least four karyotypically distinct cell types. We found no consistent pattern of selection of tumor cell types in primary tumors. However, metastases were derived from a cell type that was present in the corresponding primary tumor. In addition, novel, karyotypically distinct cell types also appeared in the metastatic nodules. Markers that appeared in metastases included two translocations, t(10; 18) and t(1;19). By injecting a mixture of cells from a metastatic nodule with a non‐metastatic clone into mice, we showed that the new cell types in metastases displayed a stable increased growth and metastatic potential when compared to the non‐metastatic clone, or when compared to the initial cell type from which the metastases derived. These results indicate that metastases are derived from a distinct cell type in the primary tumor, but that additional chromosome and cell evolution occurs, resulting in new cell types that are selected in metasta

ISSN:1045-2257    

DOI:10.1002/gcc.2870040403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractDNA amplification involving markers on human chromosome band 11q13 is a consistent feature of several major cancers, notably adenocarcinoma of the breast and squamous cell carcinoma of the head, neck, lung, and esophagus. Since the presence of the amplification may be clinically significant, by defining a subset of patients at increased risk, it is important to establish which of the several genes on the amplified DNA provides the selective force. Here we describe a physical map of the centromeric end of the amplified DNA as it exists in a particular squamous carcinoma cell line (UMSCC2) and establish an unambiguous order for several known markers in the region, including pMSS1/D11S97, pHB159/D11S146,BCL1, PRAD1/D11S287,HSTFI/FGF4andINT2/FGF3.Significantly,PRAD1is within 120–150 kb of theBCL1translocation breakpoint and the data identify a new CpG island (D11S814) betweenPRAD1andHSTFI.The ordering of theHSTFIandINT2genes and the clustering of CpG islands in the region have important implications in assessing whether the frequently observed amplifications at 11q13 are centered on one or more gene

ISSN:1045-2257    

DOI:10.1002/gcc.2870040404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractTwo t(14;18)‐negative follicular B‐non‐Hodgkin's lymphomas with the same chromosomal abnormality, dup(12)(q13→qter), are presented. The absence of aBCL2gene rearrangement was confirmed by molecular studies in both cases. Instead, duplication of a 12q segment was found. Further evidence for the presence of the dup(12)(q13→qter) was found using fluorescence in situ hybridization. dup(12q) may be equivalent to the trisomy 12 originally described in B‐chronic lymphocytic leukemia. This chromosome anomaly has also been reported in B‐non‐Hodgkin's lymphomas, usually in association with other chromosome anomalies and a more aggressive tumor phenotype. Occurrence of dup(12q) in two histologically similar cases of follicular small cleaved‐cell lymphoma without a typical t(14;18), suggests that this karyotypic change may play a critical role in some cases of follicle cent

ISSN:1045-2257    

DOI:10.1002/gcc.2870040405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractWe have prepared karyotypes from a malignant fibrous histiocytoma (MFH) of the brain of a 6‐year‐old girl. Sporadic cases of MFH in the central nervous system have been reported. However, to our knowledge, this is the first central nervous system tumor to be subjected to cytogenetic analysis. The tumor demonstrated a complex karyotype, with a variety of numerical and structural abnormalities. Although no specific cytogenetic abnormality was observed, the karyotype of this case was similar to those reported for adult MFH of soft tiss

ISSN:1045-2257    

DOI:10.1002/gcc.2870040406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractAn unambiguous and rapid characterization of amplified DNA sequences in tumor cells is important for the understanding of neoplastic progression. This study was conducted to evaluate the potential of fluorescence in situ hybridization (FISH) to identify such amplified DNA sequences in human tumor cell lines. Applying this technique, we followed the metaphase location and interphase position of amplified DNA sequences corresponding to theSAMK,MYC, andMYCNgenes in four cell lines derived from human tumors: two gastric carcinoma lines (KATO III and SNU‐16), a neuroblastoma (NUB‐7), and a neuroepithelioma (NUB‐20) line. In metaphase cells of KATO III, NUB‐7, and NUB‐20 lines, the amplified regions were clearly visible and easily identified at an intrachromosomal location: in KATO III and NUB‐7 at a terminal position and in NUB‐20 at an interstitial position. In SNU‐16, on the other hand, the amplifiedSAMKandMYCsequences were identified in extrachromosomal double minute chromosomes (DMs). In this line, theSAMKandMYCsequences were coamplified in the same cells and were colocated on the same DMs. FISH also allowed the identification of amplified DNA sequences in nondividing cells, enabling us to distinguish, at interphase, whether the amplification gave rise to intrachromosomal amplified regions (IARs) or to extrachromosomal DMs. The FISH technique also allowed us to determine at metaphase as well as at interphase the extent of amplification and the s

ISSN:1045-2257    

DOI:10.1002/gcc.2870040407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractFour patients with plasma cell leukemia (PCL) and two with multiple myeloma (MM) in transformation had complex numerical and structural chromosome abnormalities. From data published in the literature, the cytogenetic patterns of 46 cases of PCL or MM in the leukemic phase are compared with chromosomal abnormalities found in MM. Although the spectrum of chromosomal abnormalities is comparable in both diseases, the incidence of chromosome abnormalities is higher in PCL than in MM. Hypodiploidy with monosomies for chromosomes 13, 16, 17, and 18 is also more frequent in PCL than in MM. A mutation within theTP53gene was detected in one of the three patients studied molecularly.

ISSN:1045-2257    

DOI:10.1002/gcc.2870040408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractCell lines were established from fresh tumor biopsies from two Saudi patients with poorly differentiated nasopharyngeal carcinoma (NPC). Cytogenetic analysis on Giemsa‐banded metaphase cells revealed complex, abnormal karyotypes in both patients with modal chromosome numbers of 77 and 52. A der(3)dup(3)(q25‐q2?7) or t(3;?)(q27;?) was observed in both cell lines. The rearrangements involving chromosomes X, 1, 4, 6, 7, 8, 12, 13, 15, 17, and 22 in the first patient and 1, 6, and 22 in the second patient could represent clonal evolut

ISSN:1045-2257    

DOI:10.1002/gcc.2870040409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractAcute lymphoblastic leukemia (ALL) of childhood is frequently characterized by a hyperdiploid karyotype. Typically, most of the affected chromosomes in the abnormal clone are present in three copies. We have studied two patients with hyperdiploid ALL whose leukemic cells were atypical in that all or most of the chromosomes were present in either two or four copies, raising a suspicion that the observed karyotype arose through duplication of chromosomes in a precursor cell with a near‐haploid chromosome number. Analysis of restriction fragment length polymorphisms confirmed that both cases arose from a near‐haploid cell; all informative disomic chromosomes tested had loss of heterozygosity. Furthermore, the hyperdiploid karyotypes did not arise via a perfect haploid cell with exactly 23 chromosomes, because tetrasomic chromosomes remained heterozygous. These two patients probably are classified best as near‐haploid cases, which often are observed to have a co‐existing hyperdiploid clone with a duplicated chromosome set. The distinction between typical hyperdiploidy and hyperdiploidy arising via a near‐haploid cell may be clinically important, because the prognosis for patients with a hyperdiploid karyotype is favorable in comparison to that of patients with a near‐haploi

ISSN:1045-2257    

DOI:10.1002/gcc.2870040410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY

摘要:

AbstractType 1 neurofibromatosis (NF1) is a common autosomal dominant disorder that affects tissues derived from the neural crest. The manifestations are varied, comprising generalised disorders of growth and development as well as an increased risk of benign and malignant tumours including phaeochromocytomas and neurofibrosarcomas. The NF1 locus has been mapped to chromosome bands 17q11–12, and recently theNF1gene has been cloned. Deletions identified in the constitutional genotype of some patients have suggested that theNF1phenotype may arise from loss of function mutations of theNF1gene, consistent with the hypothesis that it is a tumour suppressor gene. To date, however, analysis ofNF1tumours has not revealed the frequent allele losses encompassing theNF1locus, implying loss of the wild‐typeNF1allele, which would support this hypothesis. We report allele losses with markers flanking theNF1region in each of 7 NF1 phaeochromocytomas. In each of the 3 tumours for which this could be determined, the loss involved the wild‐type chromosome. These results provide strong evidence that, in cells of the adrenal medulla at least, theNF1gene may act as a tumour suppr

ISSN:1045-2257    

DOI:10.1002/gcc.2870040411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1992

数据来源: WILEY