DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes

Menghi-Sartorio, Samantha; Mandahl, Nils; Mertens, Fredrik; Picci, Piero; Knuutila, Sakari

doi:10.1002/cyto.1068

Cited by 12 publications

(6 citation statements)

References 16 publications

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“…In the literature, we found cytogenetic data corresponding to 161 cases of WDLPS and 44 UDLPS (Sreekantaiah et al,1992; Szymanska et al,1995; Fletcher et al,1996; Palmer et al,1997; Iwasaki et al,1998; Pilotti et al,1998; Dei Tos et al,2000; Menghi‐Sartorio et al,2001; Coindre et al,2004; Gisselsson et al,2004; Sandberg,2004; Bassett et al,2005; Heidenblad et al,2006; Benchetritt et al,2007; Macarenco et al,2007; Italiano et al,2008). Among the 161 WDLPS, 146 were associated with ring chromosomes (91%), and only 15 with marker chromosomes (9%).…”

Section: Resultsmentioning

confidence: 98%

Late complete atriovenous block after percutaneous closure of a perimembranous ventricular septal defect

Butera

Chessa

Carminati

2006

Cathet Cardio Intervent

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Percutaneous closure of a perimembranous ventricular septal defect (VSD) is an alternative to surgical closure. Complications include arrhythmias and in particular early postoperative complete atrioventricular (AV) block. We report the cases of two patients, aged 2.5 and 4 years, treated with an eccentric VSD occluder device whom developed complete AV block 4 and 12 months after the procedure. The first patient experienced syncope, while the second one was completely asymptomatic. Both subjects underwent endocardial ventricular pacemaker implantation.

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Section: Resultsmentioning

confidence: 98%

Late complete atriovenous block after percutaneous closure of a perimembranous ventricular septal defect

Butera

Chessa

Carminati

2006

Cathet Cardio Intervent

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“…A case report of a large cell medulloblastoma patient by Reardon et al identified amplification of both 2p24 and 2q12-22 as well, suggesting an association between the 2q14-21 interval and N-myc amplification (31). While amplifications at 2q14-21 are not common in neoplasms, they have been reported in several sarcomas (23). The oncogene(s) involved in this region remain to be defined.…”

Section: Discussionmentioning

confidence: 99%

Comparative Genomic Hybridization Detects An Increased Number of Chromosomal Alterations in Large Cell/Anaplastic Medulloblastomas

Eberhart¹,

Kratz²,

Schuster³

et al. 2002

Brain Pathology

117

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We correlate chromosomal changes in medulloblastomas with histologic subtype, reporting the analysis of 33 medulloblastoma specimens by comparative genomic hybridization, and a subset by fluorescence in situ hybridization. Of the 33 tumors, 5 were desmoplastic/nodular, 10 were histologically classic, and 18 were large cell/anaplastic. Chromosomal gains and losses were more common in anaplastic medulloblastomas than in non‐anaplastic ones. We identified 4 medulloblastomas with c‐myc amplification and 5 medulloblastomas with N‐myc amplification; all 9 were of the large cell/anaplastic subtype. Additional regions with high level gains included 2q14‐22, 3p23, 5p14‐pter, 8q24, 9p22‐23, 10p12‐pter, 12q24, 12p11‐12, 17p11‐12, and Xp11. The majority of these high level gains occurred in anaplastic cases. We also found loss of chromosome 17p in 7 large cell/anaplastic cases but no non‐anaplastic medulloblastomas. Finally, we detected a significantly increased overall number of chromosomal alterations in large cell/anaplastic medulloblastomas (6.8/case) compared to non‐anaplastic ones (3.3/case). These findings support an association between myc oncogene amplification, 17p loss, and large cell/anaplastic histology.

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“…Overexpression of oncogenes through amplification at the chromosome level plays an important role in the development of many malignant tumor types. Cytogenetically, gene amplification can be observed in three principally and mechanistically different forms: double minutes (dmin), homogeneously staining regions (hsr), and ring chromosomes/giant marker chromosomes (hereafter referred to as rings) (Cox et al, 1965; Kopnin, 1981; Barker, 1982; Cowell, 1982; Gebhart et al, 1984; Schwab, 1998; Gisselsson et al, 1999; Pedeutour et al, 1999; Menghi‐Sartorio et al, 2001; Storlazzi et al, 2006; Hattinger et al, 2009). Depending on tumor type, the genomic contents of the amplicons vary, with different target genes in different tumors.…”

Section: Discussionmentioning

confidence: 99%

Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors

Trombetta

Mertens

Lonoce

et al. 2009

Genes Chromosomes & Cancer

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Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT). In ALT, the ring chromosomes invariably contain amplified material from the central part of the long arm of chromosome 12, mainly 12q12-->15, but often also segments from other chromosomes are involved. Previous studies have shown that one of the recurrent amplicons in ALT, located in 12q13.3-14.1 and harboring the candidate target genes TSPAN31 and CDK4, often has a sharp centromeric border. To characterize this breakpoint region in more detail, 12 cases of ALT with ring chromosomes were analyzed by array comparative genomic hybridization and fluorescence in situ hybridization. In the seven cases showing a sharply delineated amplicon in 12q13.3-14.1, the breakpoint region was further investigated by real time quantitative polymerase chain reaction and Vectorette PCR. The breakpoints clustered to a 146-kb region containing 11 genes. Whereas there was no indication that the breakpoints gave rise to fusion genes, in silico analysis revealed that the breakpoint region was enriched for repeated elements that could be important for ring chromosome formation in ALT.

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DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes

Cited by 12 publications

References 16 publications

Late complete atriovenous block after percutaneous closure of a perimembranous ventricular septal defect

Late complete atriovenous block after percutaneous closure of a perimembranous ventricular septal defect

Comparative Genomic Hybridization Detects An Increased Number of Chromosomal Alterations in Large Cell/Anaplastic Medulloblastomas

Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumors

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