Attenuated adenomatous polyposis with MSH6 variation: Two case reports
Gi Won Ha1, Min Ro Lee1, Ae Ri Ahn2
1Department of Surgery, Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, and Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Republic of Korea.
Medicine
|July 5, 2024
Summary
Attenuated adenomatous polyposis (AAP) is increasingly detected. This study identified MSH6 gene variations in two AAP patients, suggesting a role for this gene in a subset of AAP cases. Further research is warranted.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Adenomatous polyposis (AP) is a genetic disorder with subtypes including classical AP and attenuated AP (AAP).
- AAP is defined by 10-99 adenomas and its diagnosis is rising due to improved screening and imaging.
- While APC and MUTYH genes are linked to classical AP, the genetic basis of AAP remains largely unknown.
Purpose of the Study:
- To investigate the genetic underpinnings of attenuated adenomatous polyposis (AAP).
- To report cases of AAP associated with MSH6 gene variations.
Main Methods:
- Two patients diagnosed with AAP via colonoscopy underwent genetic consultation.
- Next-generation sequencing was performed to identify underlying genetic conditions.
- Germline MSH6 variations were detected in both patients diagnosed with AAP.
Main Results:
- Germline MSH6 variations were identified in two patients with attenuated adenomatous polyposis (AAP).
- No polyp recurrence was observed in either patient during a 3-year follow-up period.
Conclusions:
- Genetic mutations in the MSH6 gene can account for a small proportion of attenuated adenomatous polyposis (AAP) cases.
- Further research is necessary to fully elucidate the role of MSH6 in AAP.
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