Work

Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome

Year: 2025

Type: article

Abstract: Background Colorectal carcinoma (CRC) is rarely seen in the pediatric population. Hereditary cancers due to mismatch repair deficiency cause colorectal, brain, hematological malignancies, and other tumors in early childhood. Case presentation We present an 11-year-old boy who presented with colorectal cancer and brain tumor due to constitutional mismatch repair deficiency syndrome with a family history of sibling deaths due to brain tumors. Conclusions Hereditary cancers arising due to mismatch repair gene mutations cause early colorectal and brain cancers in children. The members of such families should be genetically screened for any mutations.

Source: Egyptian Pediatric Association Gazette

DOI: 10.1186/s43054-025-00348-9

Authors: Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi

Institutions: King Saud Medical City, Sohag University

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407121223