ArticleVirchows Archiv : an international journal of pathology2006
Spectrum of molecular alterations in colorectal, upper urinary tract, endocervical, and renal carcinomas arising in a patient with hereditary non-polyposis colorectal cancer.
Article in Virchows Archiv : an international journal of pathology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 25 citations in OpenAlex.
- Mismatch repair deficiency and microsatellite instability in urothelial carcinoma: a systematic review and meta-analysis.BMJ oncology · 2024Article
- Papillary Renal Cell Carcinoma in Lynch/Muir-Torre Syndrome with Germline Pathogenic Variant inJournal of kidney cancer and VHL · 2021Article
- Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.Current oncology (Toronto, Ont.) · 2020Article
- Lynch Syndrome-Related Clear Cell Carcinoma of the Cervix: A Case Report.International journal of molecular sciences · 2018Article
- Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
- A Detailed Immunohistochemical Analysis of a Large Series of Cervical and Vaginal Gastric-type Adenocarcinomas.The American journal of surgical pathology · 2016Article
- Lynch syndrome and cervical cancer.International journal of cancer · 2015Article
- Gastric-type adenocarcinoma of the cervix in a patient with Lynch syndrome: A case report.Gynecologic oncology reports · 2014Article
- Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.Familial cancer · 2013Article
- Analysis of microsatellite instability in medulloblastoma.Neuro-oncology · 2009Article
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9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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