RGD Reference Report - Mismatch repair genes in renal cortical neoplasms. - Rat Genome Database

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Mismatch repair genes in renal cortical neoplasms.

Authors: Baiyee, D  Banner, B 
Citation: Baiyee D and Banner B, Hum Pathol. 2006 Feb;37(2):185-9. Epub 2005 Dec 15.
RGD ID: 2293509
Pubmed: PMID:16426918   (View Abstract at PubMed)
DOI: DOI:10.1016/j.humpath.2005.10.010   (Journal Full-text)

Mutation of human mutL homolog 1 (MLH-1) and human mutS homolog 2 (MSH-2) has been linked with the pathogenesis of colorectal carcinoma in hereditary nonpolyposis colorectal cancer syndrome and other carcinomas. Mutations of these genes in renal cell carcinomas were recently described. The aim of this study was to examine the expression of MLH-1 and MSH-2 in renal cortical neoplasms of various histological types by immunohistochemistry. Thirty-eight (n = 38) resected renal tumors were obtained from the surgical pathology files of the UMass Memorial Healthcare, including clear cell carcinomas (CLEARs, n = 20), papillary carcinomas (PAPs, n = 8), chromophobe carcinomas (CHRs, n = 4), and oncocytomas (ONCs, n = 6). Positive immunostaining for MLH-1 and MSH-2 was graded by the number of positive tumor cell nuclei, as follows: 0, negative; 1, up to one third of positive nuclei; 2, one to two thirds positive; and 3, greater than two thirds positive. Loss of MLH-1 or MSH-2 was defined as a tumor with grade 0 or 1, compared with the normal tubules. Normal tubules and intercalated ducts contained cells positive for MLH-1 and MSH-2 in all cases. For both antibodies, positive staining in tumors ranged from grade 1 to 3 in the CLEAR and PAP but was only grade 2 to 3 in the CHR and ONC. Loss of MLH-1 and/or MSH-2 occurred in malignant tumors but not in ONC. Loss of MLH-1 was present in 8 (40%) of 20 CLEARs and 4 (50%) of 8 PAPs, compared with loss of MSH-2 in 4 (20%) of 20 CLEARs and 1 (25%) of 4 CHRs. Our results suggest that loss of mismatch repair genes is involved in the malignant transformation in some renal carcinomas, particularly those derived from the proximal tubules.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
renal cell carcinoma  IEP 2293509; 2293509protein:decreased expression:kidneyRGD 
renal cell carcinoma  ISOMLH1 (Homo sapiens)2293509; 2293509protein:decreased expression:kidneyRGD 
renal cell carcinoma  ISOMSH2 (Homo sapiens)2293509; 2293509protein:decreased expression:kidneyRGD 

Objects Annotated

Genes (Rattus norvegicus)
Mlh1  (mutL homolog 1)
Msh2  (mutS homolog 2)

Genes (Mus musculus)
Mlh1  (mutL homolog 1)
Msh2  (mutS homolog 2)

Genes (Homo sapiens)
MLH1  (mutL homolog 1)
MSH2  (mutS homolog 2)


Additional Information