Chromosome 12‐containing markers, including two dicentrics, in three i(12p)‐negative testicular germ cell tumors

Atkin, N. B.; Fox, Margaret; Baker, Marion C.; Jackson, Zoe

doi:10.1002/gcc.2870060405

Cited by 20 publications

(7 citation statements)

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“…The most consistent CGH finding was additional 12p material, which is in keeping with the i(l2p) chromosome found in 80% of TGCT and the over-representation of 12p material determined in FISH studies of i(12p) negative cases (Atkin et al, 1993;Rodriguez et al, 1993;Suijkerbuijk et al, 1993). Cases with additional copies of the 12pl 1.2-12.1 region have been previously reported, suggesting that a subgroup of TGCT amplifies this region (Suijkerbuijk et al, 1994;Korn et al, 1996;Mostert et al, 1996).…”

Section: Discussionsupporting

confidence: 83%

“…Approximately 80% of TGCT are associated with an isochromosome 12p (Atkin and Baker, 1983;Rodriguez et al, 1992;van Echten et al, 1995) and in i(12p) negative cases over-representation of the short arm of chromosome 12 has been demonstrated (Atkin et al, 1993;Suijkerbuijk et al, 1993;Rodriguez et al, 1993). Cytogenetic studies have not identified any other highly consistent chromosome rearrangements that are associated with this group of tumours, although gains and losses of particular chromosomes have been noted (Rodriguez et al, 1992;Mitelman, 1994;van Echten et al, 1995).…”

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confidence: 99%

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Molecular cytogenetic analysis of adult testicular germ cell tumours and identification of regions of consensus copy number change

Summersgill

Göker²,

Weber-Hall³

et al. 1998

Br J Cancer

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Summary A series of adult testicular germ cell tumours consisting of eight seminomas, 14 non-seminomas (including two cell lines) and two combined tumours was analysed by comparative genomic hybridization and, in some cases, by interphase fluorescence in situ hybridization. The gain of 12p was identified in all cases and additional material from chromosomes 7 and 8 was found in over 70% of cases, in keeping with previous analyses. Other consistent regions of gain included 1 q24-q31 (50%), 2p16-pter (41%), 2q22-q32 (45%) and Xql 1-q21 (50%). The loss of 1p32-p36 (36%), 9q31-qter (36%), 1 1q14-qter (50%), 16p (36%) and 18p (45%) and the loss of material from chromosomes 4 and 5 (50% and 36% respectively) were also found in all histological subtypes. The loss of 1 p material was confirmed in four cases by interphase FISH analysis and shown, with one exception, not to involve the loss of the D1Z2 locus at 1 p36.3, which is commonly deleted in paediatric germ cell tumours. An association between gain of 6q21-q24 with cases resistant to chemotherapy (P < 0.01) was observed. In addition, loss of chromosome 19 and 22 material and gain of 5q14-q23, 6q21-q24 and 13q were found at a significantly lower frequency in seminoma than non-seminoma. These regions may contain genes involved in the divergent development of seminoma and non-seminoma.

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Section: Discussionsupporting

confidence: 83%

mentioning

confidence: 99%

Molecular cytogenetic analysis of adult testicular germ cell tumours and identification of regions of consensus copy number change

Summersgill

Göker²,

Weber-Hall³

et al. 1998

Br J Cancer

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“…T h e most common finding has been an i(12p), seen in approximately 80% of all histologic subsets (Atkin and Baker, 1982, 1983Delozier-Blanchet et al, 1985;Gibas et al, 1986;Castedo et al, 1989a-c;Samaniego et al, 1990). T h e high incidence of additional numerical and other structural abnormalities of chromosome 12 underlines the important role of 12p and of genes located in this region, such as the KRAS protooncogene, in the development of G C T (Gibas et al, 1986;Samaniego et al, 1990;Rodriguez et al, 1992;Suijkerbuijk et al, 1991;Atkin et al, 1993). Moreover, the copy number of i( 12p) seems to be a prognostic marker (Bod et al, 1989).…”

Section: Introductionmentioning

confidence: 99%

Detection of numerical and structural chromosome abnormalities in pediatric germ cell tumors by means of interphase cytogenetics

Stock

Ambros

Lion

et al. 1994

Genes Chromosomes & Cancer

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In contrast to the cytogenetically well characterized testicular germ cell tumors (GCT) in adults, reports on cytogenetic studies in pediatric GCT are scarce. The presence of an i(12p) and numerical abnormalities involving chromosome 12 are the most frequent cytogenetic changes in GCT of adults. We have performed in situ hybridization (ISH) studies on paraffin sections and on isolated nuclei of 13 pediatric GCT with particular emphasis on those chromosome abnormalities that are common in adult GCT. These include numerical and structural abnormalities of chromosomes 1 and 12 as well as numerical deviations of chromosomes 8, 10, X, and Y. The histological subsets of the tumors investigated included two dysgerminomas (DGE), one seminoma (SE), two embryonal carcinomas (EC), four mixed and two pure yolk sac tumors (YST), and one undifferentiated (IT) and one differentiated teratoma (TD). Similar to the GCT in adults, additional copies of chromosome 12 were the most frequently observed numerical abnormalities. In contrast to the findings in adult GCT, changes in the size of the pericentromeric hybridization signals of chromosome 12, suggesting the presence of i(12p) chromosomes, were found in only two cases. No chromosome abnormalities were found in the pure TD or in the TD cells of mixed tumors containing a YST component. In the YST portion, however, Ip deletions and/or numerical chromosome changes were present. Surprisingly, deletions of the short arm of chromosome I, del(I)(p36.3), were frequent in pediatric GCT and were the sole abnormality detected in two cases. The Ip36 deletions were present in all stage-IV EC and YST investigated and were absent in the relatively benign TD and in one YST stage-I. Therefore, Ip36 deletions may have value as a prognostic marker in pediatric GCT.

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“…Sections were counterstained with Mayer's hematoxylin which stains the nuclei blue in color germ cell marker, DAZL1, in the putative ontogenic progenitor, IGCN, and in the putative derivative, seminoma, provides further support for the hypothesis that IGCN is the precursor of germ cell neoplasia. Much effort has been expended in studying the origin and differentiation patterns of germ cell neoplasias using morphological, immunohistochemical; and genetic criteria [1,5,10,11,30]. Based on the model of a germ cell tumor's histogenesis [25], it is widely accepted that all forms of testicular germ cell tumors -with the notable exception of spermatocytic seminoma -are derived from a common precursor, originally recognized and described as IGCN and also designated as carcinoma in situ of the testis [23].…”

Section: Discussionmentioning

confidence: 99%

Localization of a specific germ cell marker, DAZL1, in testicular germ cell neoplasias

et al. 2001

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DAZ-like 1( DAZL1) is a germ cell-specific protein expressed in both male and female gonads. The DAZL1 gene, which maps to chromosome 3 in humans, is an autosomal homologue to the Deleted in AZoospermia ( DAZ) gene(s) located on the Y chromosome. We studied the expression of DAZL1 by means of immunohistochemistry in order to determine its distribution among testicular germ cell neoplasias and among the intratubular lesions in their vicinity. Our results demonstrated that expression of DAZL1 protein was consistently observed in scattered cells in all intratubular germ cell neoplasias (IGCN) of the unclassified type, as well as in some of the intratubular seminomas. Foci of DAZL1 immunopositive cells were detected in pure seminomas, while single immunopositive cells were dispersed in the seminomatous component of mixed germ cell neoplasias. All the nonseminomatous components were negative for DAZL1 expression. These findings demonstrate an antigenic heterogeneity of seminoma cells. The localization of a specific germ cell protein, DAZL1, in the putative ontogenic progenitor, IGCN, and in their putative derivative, seminoma, provides further support for the hypothesis that IGCN is the precursor of germ cell neoplasias.

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Chromosome 12‐containing markers, including two dicentrics, in three i(12p)‐negative testicular germ cell tumors

Cited by 20 publications

References 5 publications

Molecular cytogenetic analysis of adult testicular germ cell tumours and identification of regions of consensus copy number change

Molecular cytogenetic analysis of adult testicular germ cell tumours and identification of regions of consensus copy number change

Detection of numerical and structural chromosome abnormalities in pediatric germ cell tumors by means of interphase cytogenetics

Localization of a specific germ cell marker, DAZL1, in testicular germ cell neoplasias

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