| Abstrakt: |
Introduction: Rett syndrome is a rare neurodevelopmental disorder that is characterized by an early normal growth pattern followed by a progressive developmental delay and loss of movements, secondary to failure of brain growth leading to intellectual disability overtime. It is caused by a mutation in the methyl CpG binding protein 2 or MeCP2 gene. Although a genetic disorder, less than 1% cases are inherited. Only one case of colon cancer has been reported in a patient with Rett syndrome which has highlighted the possible association between the syndrome and colon cancer. Case Report: We report a case of a 41-year-old female with Rett syndrome who developed simultaneous colon and ovarian tumors. She was noted to have a cystic right ovarian mass on pelvic CT along with a transverse colon mass. Her right ovary showed a serous borderline tumor without stromal invasion. Microsatellite instability was not identified, and p53 showed wild-type pattern. Her colon mass turned out to be a villous adenoma with high-grade dysplasia. Of note, she had multiple villous adenomas with high-grade dysplasia removed in the past. Discussion: It is unclear whether the pathology in this patient relates to the history of Rett syndrome. Since low-grade serous neoplasia has been shown to have driver mutations in several genes (e.g., BRAF, KRAS, EGFR) which also operate in colorectal cancers, a potential interaction is suspected. Further investigation will be required to identify potential interaction of MeCP2 mutation with colorectal and ovarian malignant conditions. |
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