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...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2025-02-01
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| Series: | Egyptian Pediatric Association Gazette |
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| Online Access: | https://doi.org/10.1186/s43054-025-00348-9 |
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| _version_ | 1823862796247367680 |
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| author | Zubair Khurshid Mishraz Shaikh Tarek Talaat Harb Elkadi |
| author_facet | Zubair Khurshid Mishraz Shaikh Tarek Talaat Harb Elkadi |
| author_sort | Zubair Khurshid |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2e525103d7b3468e8e9b9d9678bf8ff8 |
| institution | Kabale University |
| issn | 2090-9942 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Pediatric Association Gazette |
| spelling | doaj-art-2e525103d7b3468e8e9b9d9678bf8ff82025-02-09T12:24:56ZengSpringerOpenEgyptian Pediatric Association Gazette2090-99422025-02-017311510.1186/s43054-025-00348-9Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndromeZubair Khurshid0Mishraz Shaikh1Tarek Talaat Harb Elkadi2King Saud Medical CityKing Saud Medical CityKing Saud Medical CityAbstract 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.https://doi.org/10.1186/s43054-025-00348-9Colorectal carcinomaCMMRDHereditaryMSH6 mutation |
| spellingShingle | Zubair Khurshid Mishraz Shaikh Tarek Talaat Harb Elkadi 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 Egyptian Pediatric Association Gazette Colorectal carcinoma CMMRD Hereditary MSH6 mutation |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | case report a rare case of hereditary colorectal cancer and brain tumor with cafe au lait spots in a child constitutional mismatch repair deficiency cmmrd syndrome |
| topic | Colorectal carcinoma CMMRD Hereditary MSH6 mutation |
| url | https://doi.org/10.1186/s43054-025-00348-9 |
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