摘要:

AbstractA previous study of 18 primary or metastatic prostate cancers showed loss of genetic markers on chromosome 8; 10, or 16 in more than 50% of cases [Bergerheim USR et al. (1991) Genes Chromosom Cancer 3:215–220]. The small size and infiltrative nature of primary prostatic tumors have hindered efforts to assess allelic losses by traditional restriction fragment length polymorphism (RFLP)/Southern blotting methods. To improve the sensitivity and specificity of this analysis in early prostate cancer, we have amplified polymorphic microsatellite repeats by polymerase chain reaction (PCR), and have quantitated allelic imbalances with phosphor imaging technology. In this study, 63 primary prostate tumors and matched benign tissues obtained by radical prostatectomy were examined at 28 genetic loci on chromosome 8, all but five of which were located on the short arm. Twenty‐nine (46%) of the 63 cases showed loss of at least one locus. Multiple adjacent loci, usually including theLPLandMSRgenes in 8p22, were lost in 28 cases. In 10 of these, losses were observed at all informative loci on the p arm. In another 15 tumors, losses were restricted to subregions of the p arm by loci retained either distally toward the p terminus or proximally at the 8p 12–8p21 border, or both. In three tumors, two discrete regions of loss were observed within 8p, separated by several retained loci. Allelic loss of 8p loci was associated with higher tumor grade. These data are complementary to previous reports of allelic deletions in colorectal, hepatocellular, and non‐small cell lung cancers and suggest the existence of one or more pleotropic tumor suppressor genes on 8p. Genes Chromosom Cancer 10:151–159 (1994). © 1994 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870100302

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

年代:1994

数据来源: WILEY

摘要:

AbstractA modified comparative genomic hybridization (mCGH) technique was applied to a series of 17 primary breast carcinomas in which cytogenetic study (CG) demonstrated the presence of homogeneously staining region(s), suggesting the occurrence of DNA amplification. mCGH demonstrated recurrent amplifications of the whole chromosome arms 8q (9 times) and I q (7 times) and of DNA loci in the following bands: 11 q 13 (6 times), 9p 13 and 17q21.1 (4 times), I q21.1 and 16p 11.2 (3 times), and 8q22, 8q24.1, 10q22, 15q26, 17q23, and 20q 13.3 (twice). Amplification of whole chromosome arms is likely to have resulted from unbalanced translocations or isochromosomes, whereas amplifications of smaller chromosomal segments probably arose through real DNA amplification processes. In all tumors but one, more than one amplified locus was detected. The fact that many chromosomal sites were involved suggests that the process of amplification is complex and that many genes are potential targets. Genes Chromosom Cancer 10:160–170 (1994). © 1994 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870100303

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

年代:1994

数据来源: WILEY

摘要:

AbstractTranslocation t(1;19)(q23;p13) plays a crucial role in the pathogenesis of childhood pre‐B cell leukemia and results in the formation of a fusion gene E2A‐PBXI that encodes a hybrid transcription factor with oncogenic potential. Here we describe two cases, one follicular lymphoma and one acute lymphoblastic leukemia/lymphoma, characterized by a complex karyotype including t(14;18), t(8;14), as well as t(1;19). Molecular studies in both cases failed to show rearrangements of theE2Agene. These results suggest that the t(1;19) found as a secondary chromosome change in t(14;18)‐positive lymphoma/leukemia might be a molecular variant of the t(1;19) that is typical of childhood pre‐B cell leukemia. Genes Chromosom Cancer 10:171–176 (1994). © 1994 Wiley

ISSN:1045-2257    

DOI:10.1002/gcc.2870100304

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

年代:1994

数据来源: WILEY

摘要:

AbstractTo investigate genetic features of esophageal cancer, we have examined 93 squamous cell carcinomas of the esophagus for loss of heterozygosity (LOH), using 41 restriction fragment length polymorphism (RFLP) markers representing all autosomal chromosomes. Allelic losses at frequencies of at least 30% were observed at loci on chromosomal arms 3p (35%), 3q (30%), 5q (36%), 9p (57%), 9q (60%), 10p (33%), 13q (43%), 17p (62%), 17q (46%), 18q (38%), 19q (32%), and 21q (37%). These results suggest that several putative tumor suppressor genes, in addition to the cyclin D andTP53genes that are sometimes mutated in esophageal carcinomas, may be associated with development and/or progression of esophageal cancer. By a comparison of LOH on each chromosomal arm with clinicopathological parameters, we have found a significant correlation between LOH on 19q and regional lymph node metastases. Interestingly, the frequency of LOH on 17q was significantly higher in tumors in female patients (12 of 14 cases) than in those in male patients (20 of 56 cases) (P= 0.0009 by Fisher's exact test). Furthermore, we examined for mutations of theAPCgene on chromosome arm 5q. Screening of nearly one third of theAPCcoding region, including the MCR (mutation cluster region), revealed no alterations. Therefore, although allelic loss at theAPClocus is frequent in squamous cell carcinomas of the esophagus, it is likely that a gene on 5q other thanAPCis involved in esophageal tumorigenesis. Genes Chromosom Cancer 10:177–182 (1994). © 1994 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870100305

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

年代:1994

数据来源: WILEY

摘要:

AbstractLoss of heterozygosity (LOH) affecting loci at 11 p 13 and 11 p 15 occurs in childhood and adult carcinomas, including non‐small cell lund cancer (NSCLC). In NSCLC, the highest reported frequency of LOH was 72% at the 11 p 13 catalase (CAT) locus. As this locus is centromeric to the Wilms' tumour (WTI) locus, possible involvement ofWTIin the pathogenesis of NSCLC was considered. We thus examined 101 cases of NSCLC for LOH at theWTIand five other polymorphic loci along 11 p. At 11 p 13, the frequencies of LOH were 20% (9/46) at theFSHBlocus, 9% (5/53) at theWTIlocus, and 15% (6/41) at theCATlocus. The shortest region of overlap (SRO) at 11p13 was mapped centromeric to, but excluding, theWTIlocus. Only adenocarcinomas showed LOH in this region. At 11 p 15, LOH affected 23% (18/77) of informative cases, with the highest frequency of 36% at the insulin (INS) locus. The SRO at 11 p15 was mapped telomeric to theRRMIlocus. A third region, at 11 p13–15 between WTI and RRMI, was also affected by LOH. LOH at 11p correlated significantly with advanced T stage and nodal involvement in NSCLC tumours. In the squamous cell carcinoma subtype, LOH along 11p also correlated with nodal involvement. Furthermore, squamous tumours with LOH involving 11p13 loci had significantly worse survival than those without LOH. These data suggest that tumor suppressor gene(s) on 11p affect the progression of NSCLC, particularly squamous cell carcinomas. Genes Chromosom Cancer 10:183–189 (1994). © 1994 Wiley‐L

ISSN:1045-2257    

DOI:10.1002/gcc.2870100306

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

年代:1994

数据来源: WILEY

摘要:

AbstractCytogenetic analysis of short‐term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors and together with other numerical changes in another. A + 7 was also present in one case with structural aberrations. Other recurrent numerical aberrations were −14 and −18, both found in 2 adenomas with structural karyotypic changes; in addition, one chromosome 14 was lost in one of the tumors with only numerical changes. The chromosome most often involved in structural aberrations was chromosome I. In 6 cases, the rearrangements led to changes in l p, always with loss of material. The breakpoints were at l p32–36. One adenoma had deletion of l p as the only change. Other chromosomes that were involved in changes in more than 2 cases were chromosomes 8, 13, and 17. These rearrangements typically led to gain of 8q and 13q and loss of 17p. The adenomas with structural abnormalities were generally larger and had a higher degree of dysplasia than did the adenomas with numerical changes only or those with a normal karyotype. All adenomas with a tubulovillous or villous architecture had structural rearrangements. Our findings confirm that a subset of colorectal adenomas exists that have only numerical chromosome aberrations. They also support our previous conclusion that loss of material from distal l p is an early event in colorectal tumorigenesis, but that other cytogenetic aberrations follow and typically are present already at the adenomatous stage. The accumulation of chromosome‐level mutational events in adenomas correlates with the pathologic features: the more malignancy‐like the phenotype, the more complex the karyotype. There seems to be no single aberration that distinguishes colorectal adenomas from carcinomas, however. Genes Chromosom Cancer 10:190–196 (1994). © 1994 W

ISSN:1045-2257    

DOI:10.1002/gcc.2870100307

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe chromosome abnormalities in 6 patients with hairy cell leukaemia (HCL) variant, a rare B‐cell disorder with clinical and laboratory features intermediate between HCL and B‐prolymphocytic leukaemia (B‐PLL). All but one had marked splenomegaly and a raised white blood cell count (median 40 × 109/l) with over 80% nucleolated hairy cells. These cells had a B‐cell immunophenotype distinct from that of typical HCL. All patients but one are alive with stable disease with a median follow‐up of 60 months. Numerical chromosome changes included loss of chromosomes 2, 3, 4, 6, 10, 19, 21, and X. Three cases had translocations involving the immunoglobulin gene regions: t(14;17)(q32;q11), t(14;22)(q32;q11), and t(2;8)(p11.12;q24). Immunocytochemistry demonstrated the presence of the MYC protein in cells from the case with t(2;8) but not in two others. Other structural abnormalities included t(3;10)(q27;q22) and t(3;12)(q27;q13) in the same patient, der(17)t(7;10;17) (p11;q27;q22), t(1;3)(q25;p21), t(8;21)(p12;q11), t(17;21)(p11;p11), del(6)(q15), del(7)(q34), and del(14)(q24). Genes Chromosom Cancer 10:197–202 (1994). © 1994 Wi

ISSN:1045-2257    

DOI:10.1002/gcc.2870100308

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

年代:1994

数据来源: WILEY

摘要:

AbstractThe etiology of nasal polyposis is not fully understood. We found numerical chromosome changes in one out of five cytogenetically investigated nasal polyps. The histological picture of this case was characterized by the presence of histiocyte‐like cells, which were absent in the remaining cytogenetically normal polyps. Genes Chromosom Cancer 10:203–206 (1994). © 1994 Wiley‐Lis

ISSN:1045-2257    

DOI:10.1002/gcc.2870100309

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

年代:1994

数据来源: WILEY

摘要:

AbstractShort‐term cultures from a primary carcinoma of the Fallopian tube, a tumor type not characterized before by chromosome banding, were examined cytogenetically. Comlex ahocmosome aberratinss were found in all mitoses, yielding the karyotype 41,XX,del(1)(p34),del(2)(q31),i(8)(q10),‐9, + dic(9;19)(p13;p13), der(12)t(9;12)(p11;q22),‐13,‐16,‐17,‐18,‐19,‐22, +r [61]/84–86,idemx2[15]. Several of the aberrations in the present case are similar to changes found in adenocarcinomas of other organs, including carcinomas of the ovaries and uterus, indicating pathogenetic similarities between Fallopian tube malignancies and the more common gynecologic cancers. Genes Chromosom Cancer 10:207–209 (1994). ©

ISSN:1045-2257    

DOI:10.1002/gcc.2870100310

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

年代:1994

数据来源: WILEY

摘要:

AbstractAngiosarcoma of the breast is quite rare, and the development of cutaneous angiosarcoma after segmental mastectomy and radiation therapy is even less common. A cytogenetic analysis of a mammary angiosarcoma arising in a breast after previous irradiation and segmental mastectomy for infiltrating ductal carcinoma revealed multiple clonal rearrangements involving chromosomes X, 1, 2, 3, 4, 5, 6, 7, 8, 9, 15, 17, 20, and 22. No cytogenetically analyzed angiosarcomas of the breast have been reported before. Genes Chromosom Cancer 10:210–212 (1994). © 1994 Wiley‐Liss,

ISSN:1045-2257    

DOI:10.1002/gcc.2870100311

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

年代:1994

数据来源: WILEY