摘要:

AbstractRing chromosome 12 was found in an untreated cerebellar astrocytoma apparently resulting from nonrandom telomeric associations involving the short arm of chromosome 15, and both the long and short arms of chromosome 12. The clonal nonrandom telomeric associations of 15p to both ends of the chromosome 12 were transitory, but appear to be the precursor lesion in the evolution to ring chromosome 12 in this tumor. A multistep process in the formation of a ring chromosome resulting from nonrandom telomeric associations to both telomeres is illustrated. © 1993 Wiley‐Liss, I

ISSN:1045-2257    

DOI:10.1002/gcc.2870080202

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

年代:1993

数据来源: WILEY

摘要:

AbstractA series of twenty unselected Wilms′ tumors were analysed for alterations in theWT1tumor suppressor gene. The entire coding region ofWT1was amplified by RNA‐PCR, and then screened for mutations by single‐strand conformational polymorphism analysis (SSCP). This method was shown to be capable of detecting point mutations in theWT1gene, by using an experimentally produced mutation. A single mutation, a 226 bp intragenic deletion, was detected in a tumor from a patient with the WAGR syndrome. These results suggest that alterations in theWT1gene may be involved in only a subset of Wilms′ tumors, and that other loci need to be investigated as potential suppressor genes in sporadic Wilms′ tumors. © 1993 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870080203

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

年代:1993

数据来源: WILEY

摘要:

AbstractWe have analyzed theBCL1locus in a series of 24 B‐cell tumors and cell lines with rearrangements of 11q13 (mostly t(11;14)(q13;q32) translocations). Using Southern hybridization and/or fluorescence in situ hybridization (FISH) on metaphase chromosomes, we have not only confirmed the scattering of the breakpoints between theBCL1locus and the cyclin DI gene (CCND1), but also shown that some of the breakpoints could be as far as 500 kb on either side of the latter. Expression ofCCND1was not restricted to cases with t(11;14)(q13;q32), but was also associated with other 11q13 rearrangements, such as a t(8;11)(p22;q13). Whatever the alteration at 11q13, a correlation was observed between the expression ofCCND1and the presence of a breakpoint within 150 kb upstream of the gene. On the contrary, three samples, including a bona fide t(11;14) translocation and two cases with breakpoints located outside theBCL1‐CCND1area, did not exhibit detectable levels ofCCND1transcripts. Our results raise the possibility that several discrete molecular events can take place at 11q13 in B‐cell malignancies. © 1993 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870080204

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

年代:1993

数据来源: WILEY

摘要:

AbstractThe genetic alterations that underlie prostate tumorigenesis are assumed to comprise gain or loss of specific chromosomal regions, whole chromosomes, or sequence‐specific mutations. Existing data have not demonstrated clear specificity of whole chromosome or regional chromosomal gain or loss that characterizes entire individual malignant lesions, or all malignant lesions, within a cancerous prostate. We have analyzed tissues from 13 patients for target sequences by using PCR and FISH techniques on paired malignant or prostatic intraepithelial neoplastic (PIN) and benign samples (usually from different areas of the same paraffin section). We exercised stringent histologic control over these samples by examining small (<5 mm2), discrete regions of sectioned benign, malignant, and PIN tissue. The same histologic region was examined on serial sections by FISH and PCR analysis. The tissues were examined for numerical aberrations involving chromosomes 4 (as a control), 7, 8, 10, and the Y by FISH analysis, and for gain or loss of chromosome 7 and chromosomal arms 8p, 10q, and Yp by PCR analysis. The concurrent application of PCR and FISH to microdissected prostatic tissues yielded evidence of higher frequencies of genetic aberration in prostate cancers than those found with either method alone or by other approaches. These results indicate the power of simultaneous genetic assays that are closely linked to specific tumor histology. © 1993 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870080205

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

年代:1993

数据来源: WILEY

摘要:

AbstractNumerical chromosome abnormalities were studied in 17 acute lymphoblastic leukemias and one hyperdiploid acute myeloblastic leukemia by fluorescence in situ hybridization (FISH) using YAC clones specific to chromosomes 21 and 6. The results agreed well with cytogenetic findings. Hyperdiploid leukemias with more than 50 chromosomes usually had 4 copies of chromosome 21 and three of chromosome 6, while diploid and pseudodiploid cases were confirmed to have two copies of the two chromosomes. Interesting discrepancies were also observed. In one patient, trisomy 6 was detected by FISH but not by cytogenetics because of the probable inclusion of a chromosome 6 segment within a marker chromosome. The percentages of nuclei with 3 or 4 spots (chromosome 21) and three spots (chromosome 6) in hyperdiploid cells were significantly different in some patients, whereas they might be identical from cytogenetic data. © 1993 Wiley‐Liss, I

ISSN:1045-2257    

DOI:10.1002/gcc.2870080206

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

年代:1993

数据来源: WILEY

摘要:

AbstractTumor and constitutional chromosome arm 11p genotypes were compared in 6 hepatoblastoma (HB) patients and 2 adrenal adenoma (AA) patients, with one HB patient and both AA patients displaying clinical features associated with the Beckwith‐Wiedemann syndrome (BWS). Using up to 14 chromosome 11 polymorphic markers, loss of constitutional heterozygosity (LOH) was demonstrated in both AA patients and in 4 of 6 HB patients. This identified three distinct and non‐overlapping regions of 11p within which LOH occurred, which were defined as lying distal to the gamma‐globin locus (11p15.5), proximal to the gamma‐globin locus but distal to 11p13 (LOH being detected at 11p15.1), and restricted to the 11p13 region. Specific LOH within each 11p15 region was observed in HB, and this represents the first demonstration by a single study of LOH clearly affecting separate regions of chromosome band 11p15 in a particular tumor type. One AA showed LOH restricted to 11p13 loci, implicating the involvement of theWT1gene. The second AA patient presented with genitourinary abnormalities and we therefore examined sequences coding for 3 zinc finger domains ofWT1in both AAs. No point mutations were identified in sequence from either patient. Nonetheless our results indicate that 3 separate 11p loci may be significant in the development of tumors which arise in association with BWS. © 1993 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870080207

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

年代:1993

数据来源: WILEY

摘要:

AbstractNeurofibromatosis type 2 (NF2) is a rare autosomal dominant disease, characterized by the development of bilateral vestibular schwannomas. TheNF2gene has been assigned to chromosome 22. Cataract and other eye abnormalities are frequently seen in NF2 patients. The specific association of eye abnormalities and NF2 might be caused by a genetic change on chromosome 22 that affects both theNF2gene and a physically linked crystallin gene. In order to test this hypothesis, we regionally localized the known crystallin genes (i.e.CRYBB2, CRYBB2P1, CRYBB3, andCRYBA4) on chromosome 22. Crystallin gene‐specific probes were hybridized to an extended panel of human x rodent somatic cell hybrids containing various portions of chromosome 22. It was found that all crystallin genes map to a very small region on chromosome 22 that is physically separate from theNF2gene region by at least 160 kb of DNA. In addition, we found that the βB crystallin genes (CRYBB2, CRYBB2P1, andCRYBB3) are clustered on a 300 kb Sacll fragment and that the βA4 crystallin gene (CRYBA4) is not part of this cluster. We conclude that the ocular manifestations in many NF2 patients are probably not the primary consequence of rearrangements on chromosome 22 that involve both theNF2gene and a nearby β crystallin gene.\\wiley5\wiley$\Wiley‐JWPH\final\

ISSN:1045-2257    

DOI:10.1002/gcc.2870080208

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

年代:1993

数据来源: WILEY

摘要:

AbstractThe consistency of the breakpoint on chromosome 5 at band 5q35 occurring in Ki‐1 non‐Hodgkin's lymphomas is highly suggestive of the involvement of a locally altered gene in this disease. In this study, we analyzed the potential involvement, in the translocation, of two receptor tyrosine kinase genes and putative oncogenes,FLT4andFGFR4, previously localized near this breakpoint. Fluorescence in situ chromosomal hybridization allowed us to refine their localization to sub‐band 5q35.3 and to show that both genes are translocated to the derivative chromosomes in Ki‐1 cell lines containing either a t(2;5) or a t(3;5). Pulsed‐field gel electrophoresis showed that theFLT4andFGFR4genes are not physically linked, nor are they altered by the translocation. Finally, Northern blot analysis showed that neitherFLT4norFGFR4is expressed in the Ki‐1 cell lines, suggesting that they are not implicated in the genesis of Ki‐1 lymphomas. © 1993 W

ISSN:1045-2257    

DOI:10.1002/gcc.2870080209

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

年代:1993

数据来源: WILEY

摘要:

AbstractIn a small percentage of cases of chronic myelogenous leukemia (CML), where the Ph chromosome is masked because of highly complex translocations and sub‐microscopic rearrangements, precise identification of chromosomal aberrations by routine banding techniques has been difficult. We report on a new case of CML in which a single copy of a masked Ph chromosome was duplicated during blast crisis, i.e., the karyotype was 47,XY, dir ins(22;9)(q11;q34.1q34.2),t(1;22) (q21;q11), + der (22)t(1;22)(q21;q11). The chromosome in situ suppression hybridization (CISS) technique with whole chromosome 1 and 22 specific painting probes demonstrated that 22q11‐qter had been translocated to lq21, whereas 22q11 was the recipient of Iq21‐qter. Furthermore, a cosmid probe identified the location of theABLgene on only one chromosome 9 (band q34). The otherABLgene could be detected on both derivative chromosomes 22 at band q11 which was flanked by the translocated part of the long arm of chromosome I, thus providing direct visualization of theABLinsertion in a double masked Ph chromosome. A breakpoint within the 5.8 kb major breakpoint cluster [M‐BCR] region was shown by Southern blotting. © 1993 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870080210

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

年代:1993

数据来源: WILEY

摘要:

AbstractCytogenetic analysis of a pulmonary chondroid hamartoma showed an inv(12)(p13q14‐15) as the sole abnormality. This finding together with previously reported data is an indication that the 12q14‐15 region may be nonrandomly involved in the pathogenesis of this tumor type. © 1993 Wiley‐Lis

ISSN:1045-2257    

DOI:10.1002/gcc.2870080211

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

年代:1993

数据来源: WILEY