ArticleClinical journal of gastroenterology2021
Mismatch repair proteins immunohistochemical null phenotype in colon medullary carcinoma.
Article in Clinical journal of gastroenterology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.Virchows Archiv : an international journal of pathology · 2026Article
- Four Surgical Cases of Medullary Carcinoma of the Colon.Surgical case reports · 2025Article
- Primary medullary adenocarcinoma of the colon: Literature review and case series.Surgery in practice and science · 2024Article
- Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.Diagnostics (Basel, Switzerland) · 2024Article
- Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan.Hereditary cancer in clinical practice · 2023Article
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
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Abstract
introductionIn mismatch repair (MMR) immunohistochemistry, four MMR proteins' staining pattern reveals which particular gene may be defective. However, in the null phenotype, four MMR proteins are lost; consequently, it will be challenging to assume the target gene by immunohistochemistry and to determine whether deficient MMR was sporadic or germline. CASE REPORT: A 70-year-old man underwent right hemicolectomy with the diagnosis of ascending colon cancer. The postoperative histopathology revealed the diagnosis of medullary carcinoma and the loss of all four MMR expressions in immunohistochemistry. The mutation analysis using a peripheral blood sample showed no germline mutations in the four genes. DISCUSSION: This clinical case presents an unusual colon carcinoma that showed a MMR protein immunohistochemistry null phenotype. The cause of expression loss of MMR proteins can be explained by the loss of MLH1 and MSH2 functions associated with somatic loss of function mutations, functional loss in all four MMR proteins associated with somatic loss of function mutations, or Lynch-like syndrome. Correct interpretation and accumulation of relevant cases are necessary to unveil unusual cases in the era of universal screening.
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