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

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.

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Publication Details

Journal
Egyptian Pediatric Association Gazette
Published
2025-02-04
DOI
https://doi.org/10.1186/s43054-025-00348-9
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

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

Mishraz Shaikh, Tarek Talaat Harb Elkadi, Zubair Khurshid
Egyptian Pediatric Association Gazette
Genetic factors in colorectal cancer
article

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

Mishraz Shaikh, Tarek Talaat Harb Elkadi, Zubair Khurshid
article en

Abstract

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.

Egyptian Pediatric Association GazetteVol. 73(1)
King Saud Medical City (SA), Sohag University (EG)
Openalex Percentile: Top 97%
Genetic factors in colorectal cancer
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