Mismatch repair proteins immunohistochemical null phenotype in colon medullary carcinoma.
Colorectal cancer
Lynch syndrome
Medullary carcinoma
Mismatch repair proteins
Journal
Clinical journal of gastroenterology
ISSN: 1865-7265
Titre abrégé: Clin J Gastroenterol
Pays: Japan
ID NLM: 101477246
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
28
04
2021
accepted:
15
07
2021
pubmed:
20
7
2021
medline:
16
9
2021
entrez:
19
7
2021
Statut:
ppublish
Résumé
In 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. 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. 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.
Identifiants
pubmed: 34279804
doi: 10.1007/s12328-021-01484-6
pii: 10.1007/s12328-021-01484-6
doi:
Substances chimiques
MutL Protein Homolog 1
EC 3.6.1.3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1448-1452Informations de copyright
© 2021. Japanese Society of Gastroenterology.
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