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

Virchows Archiv : an International Journal of Pathology
P Mongiat-ArtusF Praz

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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Citations

Jul 27, 2012·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Anne M MillsTeri A Longacre
Jan 31, 2009·Neuro-oncology·Marta Viana-PereiraRui Manuel Reis
Jun 25, 2014·Actas urologicas españolas·A García-TelloJ C Angulo
Jun 18, 2015·Gynecologic Oncology Reports·M MoatR J Edmondson
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Dec 20, 2015·The American Journal of Surgical Pathology·Claire CarletonW Glenn McCluggage
Mar 2, 2012·Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology·Christine StoehrBernhard Walter
Nov 30, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Navya NairKaren L Hiotis
Oct 8, 2016·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Holly L HarperCristina Magi-Galluzzi
Mar 29, 2018·International Journal of Molecular Sciences·Kohei NakamuraSatoru Kyo

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