RGD Reference Report - Complex patterns of chromosome 9 alterations including the p16INK4a locus in Wilms tumours. - Rat Genome Database

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Complex patterns of chromosome 9 alterations including the p16INK4a locus in Wilms tumours.

Authors: Natrajan, R  Warren, W  Messahel, B  Reis-Filho, JS  Brundler, MA  Dome, JS  Grundy, PE  Vujanic, G  Pritchard-Jones, K  Jones, C 
Citation: Natrajan R, etal., J Clin Pathol. 2008 Jan;61(1):95-102. Epub 2007 Mar 16.
RGD ID: 2289679
Pubmed: PMID:17369505   (View Abstract at PubMed)
DOI: DOI:10.1136/jcp.2007.047159   (Journal Full-text)

BACKGROUND: Previous data implicating genetic and epigenetic events on chromosome 9, including the CDKN2A/2B locus, as molecular predictors of Wilms tumour relapse, have been conflicting. AIMS: To clarify this using genome-wide and focused molecular genetic analysis. METHODS: Microarray-based comparative genomic hybridisation (aCGH) using genome-wide coverage was applied to 76 favourable histology Wilms tumours. Additional investigation of the 9p21 locus was carried out using loss of heterozygosity (LOH) and fluorescence in situ hybridisation (FISH), as well as immunohistochemistry for CDKN2A/p16(INK4a) on a paediatric renal tumour tissue microarray. RESULTS: Approximately half of the tumours were found to show chromosome 9 copy number changes. Those cases which harboured alterations comprised at least four distinct patterns: gain of the entire chromosome, loss of 9p, gain of 9q34, or a more complex combination of gains/losses. None of these tumour groups showed any statistically significant correlation with clinicopathological variables. Deletion mapping of 9p by LOH revealed several regions of overlap, including the CDKN2A/2B locus in 4/34 (11.8%) tumours, which was confirmed to represent hemizygous deletions by FISH. CDKN2A/p16(INK4a) protein expression was predominantly negative in Wilms tumours as assessed by immunohistochemistry on a tissue array, reflecting the expression pattern in normal kidney. However, 38/236 (16.1%) non-anaplastic Wilms tumours, 4/9 (44.4%) anaplastic Wilms tumours, 5/7 (71.4%) rhabdoid tumours of the kidney, and 4/10 (40%) clear cell sarcomas of the kidney showed nuclear CDKN2A/p16(INK4a )immunoreactivity. CONCLUSIONS: These data reveal the complex nature of genetic alterations on chromosome 9 in Wilms tumours, but do not provide evidence for their involvement in or association with treatment failure.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Kidney Neoplasms  IEP 2289679protein:increased expression:kidneyRGD 
Kidney Neoplasms  ISOCDKN2A (Homo sapiens)2289679; 2289679; 2289679protein:increased expression:kidneyRGD 
nephroblastoma  IEP 2289679protein:increased expression:kidneyRGD 
nephroblastoma  ISOCDKN2A (Homo sapiens)2289679; 2289679; 2289679protein:increased expression:kidneyRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cdkn2a  (cyclin-dependent kinase inhibitor 2A)
Cdkn2a_v1  (cyclin-dependent kinase inhibitor 2A, variant 1)

Genes (Mus musculus)
Cdkn2a  (cyclin dependent kinase inhibitor 2A)

Genes (Homo sapiens)
CDKN2A  (cyclin dependent kinase inhibitor 2A)


Additional Information