Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.

2.50
Hdl Handle:
http://hdl.handle.net/10541/97440
Title:
Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.
Authors:
Hoban, Paul R; Heighway, Jim; White, Gavin R M; Baker, Bartrum W; Gardner, J; Birch, Jillian M; Morris-Jones, Pat H; Kelsey, Anna M
Abstract:
A patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the loss of constitutional heterozygosity (LOCH), initially for chromosome 11, was performed on peripheral blood, the normal kidney, nephrogenic rest and tumour material. The study was extended to include markers from all 23 chromosomes. At each informative, locus, LOCH of the maternal allele was shown in the nephrogenic rest and tumour material. In addition, the normal kidney displayed allele imbalance. It would appear from these results that either extensive LOCH across the genome was an early genetic event in the development of malignancy in this patient or that the tumour and rest developed from cells containing no maternal chromosomes. The apparent LOCH seen in the normal kidney sample implies that full reduction to homozygosity is consistent with a histologically normal appearance. Putative mechanisms to explain this phenomenon are discussed.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute of Cancer Research, Christie (CRC) Research Trust, Manchester, UK.
Citation:
Genome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient. 1995, 95 (6):651-6 Hum. Genet.
Journal:
Human Genetics
Issue Date:
Jun-1995
URI:
http://hdl.handle.net/10541/97440
DOI:
10.1007/BF00209482
PubMed ID:
7789950
Type:
Article
Language:
en
ISSN:
0340-6717
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorHoban, Paul Ren
dc.contributor.authorHeighway, Jimen
dc.contributor.authorWhite, Gavin R Men
dc.contributor.authorBaker, Bartrum Wen
dc.contributor.authorGardner, Jen
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorMorris-Jones, Pat Hen
dc.contributor.authorKelsey, Anna Men
dc.date.accessioned2010-04-27T11:27:39Z-
dc.date.available2010-04-27T11:27:39Z-
dc.date.issued1995-06-
dc.identifier.citationGenome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient. 1995, 95 (6):651-6 Hum. Genet.en
dc.identifier.issn0340-6717-
dc.identifier.pmid7789950-
dc.identifier.doi10.1007/BF00209482-
dc.identifier.urihttp://hdl.handle.net/10541/97440-
dc.description.abstractA patient with Beckwith-Wiedemann syndrome (BWS) presented with Wilms' tumour. Examination of the nephrectomy specimen showed, in addition to the tumour, the presence of nephrogenic rests. Nephrogenic rests are thought to be precursor lesions from which a Wilms' tumour may develop. A molecular analysis examining the loss of constitutional heterozygosity (LOCH), initially for chromosome 11, was performed on peripheral blood, the normal kidney, nephrogenic rest and tumour material. The study was extended to include markers from all 23 chromosomes. At each informative, locus, LOCH of the maternal allele was shown in the nephrogenic rest and tumour material. In addition, the normal kidney displayed allele imbalance. It would appear from these results that either extensive LOCH across the genome was an early genetic event in the development of malignancy in this patient or that the tumour and rest developed from cells containing no maternal chromosomes. The apparent LOCH seen in the normal kidney sample implies that full reduction to homozygosity is consistent with a histologically normal appearance. Putative mechanisms to explain this phenomenon are discussed.en
dc.language.isoenen
dc.subjectKidney Canceren
dc.subjectWilms Tumouren
dc.subject.meshAlleles-
dc.subject.meshBeckwith-Wiedemann Syndrome-
dc.subject.meshChromosomes, Human, Pair 11-
dc.subject.meshFemale-
dc.subject.meshGene Deletion-
dc.subject.meshGenome, Human-
dc.subject.meshHumans-
dc.subject.meshInfant-
dc.subject.meshKidney Neoplasms-
dc.subject.meshPloidies-
dc.subject.meshPolymerase Chain Reaction-
dc.subject.meshPolymorphism, Restriction Fragment Length-
dc.subject.meshPrecancerous Conditions-
dc.subject.meshRepetitive Sequences, Nucleic Acid-
dc.subject.meshWilms Tumor-
dc.titleGenome-wide loss of maternal alleles in a nephrogenic rest and Wilms' tumour from a BWS patient.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute of Cancer Research, Christie (CRC) Research Trust, Manchester, UK.en
dc.identifier.journalHuman Geneticsen

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