I am a
Home I AM A Search Login

Papers of the Week


2020 Oct


J Pediatr Hematol Oncol


42


7

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

Authors

Sağ E, Erkut M, Saygin İ, Çebi A H, Bahadir A, Erduran E, Saruhan H, Cakir M
J Pediatr Hematol Oncol. 2020 Oct; 42(7):e689-e691.
PMID: 31599855.

Abstract

Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect.