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01-08-2006 | Case Report

Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer

Authors: Pierre Mongiat-Artus, Catherine Miquel, Jean-François Fléjou, Florence Coulet, Jérôme Verine, Olivier Buhard, Hany Soliman, Pierre Teillac, Françoise Praz

Published in: Virchows Archiv | Issue 2/2006

Abstract

Hereditary nonpolyposis colon cancer (HNPCC) syndrome is the most frequent hereditary cancer syndrome predisposing to cancers of various locations, especially colon, endometrium, stomach, and upper urinary tract. Carcinomas of the kidney parenchyma are not considered as an HNPCC-related tumor. HNPCC tumors are characterized by microsatellite instability (MSI) due to a defect in mismatch repair (MMR) and carry somatic frameshift mutations in mononucleotide repeats within the coding regions of key genes. We report the first case of a papillary carcinoma of the kidney in an HNPCC patient who developed carcinomas of the upper urinary tract, endocervix, and colon. Whereas the HNPCC-related tumors demonstrated MSI phenotype, loss of MSH2 protein expression, and frameshift mutations in several of the 13 target genes analyzed, the kidney cancer displayed MSS phenotype, normal MMR protein expression, and no frameshift mutation in target genes. Our observations do not support the possibility that papillary carcinomas are part of HNPCC syndrome.

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Title: Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer
Authors: Pierre Mongiat-Artus
Catherine Miquel
Jean-François Fléjou
Florence Coulet
Jérôme Verine
Olivier Buhard
Hany Soliman
Pierre Teillac
Françoise Praz
Publication date: 01-08-2006
Publisher: Springer-Verlag
Published in: Virchows Archiv / Issue 2/2006
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-006-0182-9

At a glance: The STEP trials

Springer Medicine

Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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