摘要:

AbstractFifteen to 20% of breast carcinomas show amplification of genes located at 11q13. TheHST/FGFKandINT2fibroblast growth factor (FGF)‐related genes and theBCL1locus are usually present in the amplification units. We have investigated the structure and chromosomal location of the 11q13 amplicon of the MDA‐MB‐134 mammary carcinoma cell line by using in situ chromosomal and pulsed field gel hybridizations. The results indicate that a limited number of amplification units are involved in the constitution of an extended chromosomal region located on 11q. These units do not show any important rearrangement over rather large distances around theHST/INT2andBCL

ISSN:1045-2257    

DOI:10.1002/gcc.2870020302

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe describe four cases of childhood acute lymphoblastic leukemia with monosomy 20 as the sole cytogenetic abnormality. These cases represent 3.4% of cytogenetically abnormal childhood ALL studied in our institute at diagnosis. The patients presented at similar age, ranging from 31 to 36 months. All four patients remain in first remission with survival time being at least 20 months from the time of diagnosis.

ISSN:1045-2257    

DOI:10.1002/gcc.2870020303

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report results of cytogenetic analysis of a cell line established from a radiation induced germ cell tumor. Tumors of this type are rare, and there is only one other report of chromosome analyses of solid tumors induced by radiotherapy (Cowan et al., 1990). The cells were grown for over a year, and harvested at passage 13. The karyotype was pseudodiploid, with several balanced translocations. Spontaneously occurring germ cell tumors are associated with i(12p). We did not observe an i(12p), but instead found monosomy of 12p and 7q22→q3

ISSN:1045-2257    

DOI:10.1002/gcc.2870020304

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

年代:1990

数据来源: WILEY

摘要:

AbstractAll human chromosomes were screened in 52 human breast carcinomas for the occurrence of allele losses, in order to identify genomic alterations involved in initiation and progression of the disease. Loss of chromosome 22 alleles was detected in 6 out of 8 lobular carcinomas, while chromosome 17 losses were most frequent in ductal carcinomas. Furthermore, patients who developed advanced disease after many years of mild clinical course showed significantly higher frequencies of allele losses in their primary tumors, compared to patients with a persistently mild disease course. Finally, in one case, molecular examination suggested a translocation t(10;17) with coamplification of theERBB2oncogene and chromosome 10 sequences present in the two tumors from this patient, consistent with one of the tumors being a metastasis originating from a subclone of cells in the other tumor.

ISSN:1045-2257    

DOI:10.1002/gcc.2870020305

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report the finding of clonal structural chromosome abnormalities in short‐term cultures from 15 squamous cell carcinomas of the head and neck region. When the distribution of chromosomal breakpoints in these 15 tumors and in the 16 head and neck carcinomas previously described are assessed, a marked clustering is seen at bands 1p22 and 11q13, which are rearranged in eight and nine tumors, respectively. No other band was involved in aberrations in more than five tumors. Cytogenetic evidence of gene amplification was seen in four tumors, three times in the form of homogeneously staining regions (twice located in 11q13), and in one tumor as double minutes. Among the candidate genes for such amplification areBCL1, INT2, andHST1, all of which map to 11q13, andNRAS, which maps to 1p22. All these oncogenes have previously been shown to be amplified in subsets of head and neck carcinomas. We conclude that bands 1p22 and 11q13 are nonrandomly involved in chromosomal rearrangements in head and neck carcinomas and suggest that activation of oncogenes located in these bands may proceed via cytogenetic mechanism

ISSN:1045-2257    

DOI:10.1002/gcc.2870020306

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

年代:1990

数据来源: WILEY

摘要:

AbstractSix posterior uveal melanomas were karyotyped after short‐term culture. One had a normal chromosome complement; the remaining five had limited chromosome changes. Involvement of chromosomes 1 and 6 was noted in two and four cases, respectively, and three ciliary body tumours demonstrated both monosomy 3 and i(8q

ISSN:1045-2257    

DOI:10.1002/gcc.2870020307

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

年代:1990

数据来源: WILEY

摘要:

AbstractMalignant rhabdoid tumors (MRT) are rare; thus very few cytogenetic studies of this type of tumor have been performed. We report the results of cytogenetic studies of 10 MRTs from various anatomic primary sites. Six cases had normal diploid karyotypes with no detectable rearrangements or aneuploidy except for occasional tetraploid cells. In 4 of these cases the tumor phenotype was verified by electron microscopic studies. In a seventh case only normal cells were identified in short‐term culture, but a del(13)(q14) appeared after 4 months in culture. A soft tissue MRT contained a translocation, t(8;15)(q12;p11), and a liver MRT contained a del(3)(q21) or t(3;?)(q21;?). The single case of a primary brain MRT had monosomy 22 with deletion of part of the remaining chromosome 22. Our findings indicate that visible chromosomal rearrangements occur in fewer than half of MRTs. When combined with other reported series, our study indicates that monosomy 22 is a non‐random chromosomal abnormality in primary MRT of the br

ISSN:1045-2257    

DOI:10.1002/gcc.2870020308

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

年代:1990

数据来源: WILEY

摘要:

AbstractThe t(10;14)(q24;q11) translocation is a non‐random chromosome change seen in the leukemic cells of 5–10% of patients with T‐cell acute lymphoblastic leukemia (T‐ALL). Recent studies support the hypothesis that the translocation occurs in the course of aberrant physiological recombination and results in the juxtaposition of a T‐cell receptor (TCR) gene in 14q11 with a putative oncogene,TCL3, in 10q24. We cloned and sequenced the translocation breakpoints on both derivative 10q+ and 14q– chromosomes from a patient with t(10;14)(q24;q11) T‐ALL. Two distinct diversity segments ofTCRD, Dδ2 and Dδ3, were identified at the two translocation breakpoints on chromosome 14. The 9.5 kb DNA that separates these two subunits in the germline was deleted, possibly in the course of a D‐D joining event. The two chromosome 10 breakpoints were 10 nucleotides apart and occurred in the immediate vicinity of a pseudo‐heptamer signal motif. N‐region addition is also evident at the breakpoint on the derivative chromosome 10. Our observations strongly suggest that theIG/TCRrecombinase normally involved in V‐(D)‐J joining was involved in the process of the t(10;1

ISSN:1045-2257    

DOI:10.1002/gcc.2870020309

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

年代:1990

数据来源: WILEY

摘要:

AbstractThe t(11;14)(q13;q32) is a recurring translocation associated with some chronic B‐cell lymphocytic malignancies; the putative protooncogeneBCL1, located at the chromosome band 11q13, can be involved during the translocation process. In order to determine ifBCL1rearrangement is associated with a particular subtype of lymphoma, we analysed 131 B‐cell non‐Hodgkin's lymphoma samples by Southern blot analysis, using aBCL1probe. TheBCL1locus was rearranged in 9 out of 25 (36%) cases of intermediate lymphocytic cell lymphomas (ILL), in 1 out of 8 cases of diffuse small cleaved cell lymphoma, in 1 out of 12 cases of diffuse mixed cell lymphoma, and in 1 out of 21 cases of diffuse large cell lymphoma. In contrast,BCL1was never found rearranged in any of the 46 follicular lymphomas analysed. TheBCL2gene was in germ‐line configuration in all ILL. Sequential hybridization of Southern blots with JH, Cμ, andBCL1probes identified comigrating fragments in only one case of ILL, which suggests that, in all the other cases, either the rearrangement ofBCL1did not result from a t(11;14) translocation or the break on chromosome 14 occurred outside the JH or Cμ regions. These results indicate that rearrangement of theBCL1locus may be closely associated with ILL and could be considered as a genotypic marker of this lymphom

ISSN:1045-2257    

DOI:10.1002/gcc.2870020310

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

年代:1990

数据来源: WILEY

摘要:

AbstractA substantial percentage of uterine leiomyomas are cytogenetically characterized by consistent, clonal chromosome abnormalities, including t(12;14)(q14–15;q23–24) and other rearrangements of 12q14–15 that occur without any visible 14q changes. The partly similar banding characteristics of these two regions have hitherto precluded exact mapping of the 12q and 14q breakpoints to any particular band, let alone their assignment to subbands. In the series of four myomas presented here, in which one tumor had inv(12q), two t(12;14), and one a three‐way t(7;12;14), we were able to achieve high resolution banding (550 band stage) of the rearranged chromosomes in several metaphases. This enabled us to assign a 12q breakpoint to 12q15 in all tumors and, in the three cases informative in this regard, the 14q breakpoint to 14q24.1. The more precise breakpoint mapping considerably narrows down the area that must be examined with molecular genetic methods in order to identify the gene loci that are rearranged in leiomyomas with 12q and 14q aberrations. It will also help determine to what extent leiomyoma rearrangements of 12q involve the same loci that are affected in 12q changes in other tumor types, e.g., in pleomorphic adenomas of the salivary gland, in lipomas, and in myxoid liposarcomas. At present it seems that the breakpoint in 12q may be cytogenetically identical in the three benign tumors, whereas it in myxoid liposarcomas appears to be more p

ISSN:1045-2257    

DOI:10.1002/gcc.2870020311

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

年代:1990

数据来源: WILEY