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Multiple colonic ulcers associated with trisomy 8: serial changes in colonoscopic findings
Shunichi Yanai1, Shotaro Nakamura2, Keisuke Kawasaki2
1Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Uchimaru 19-1, Morioka, 020-8505, Japan. syanai@iwate-med.ac.jp.
This study details a patient with myelodysplastic syndrome (MDS) and trisomy 8 who developed colonic ulcers. Trisomy 8, not Behçet's disease, was presumed the cause due to the absence of extraintestinal symptoms.
Area of Science:
- Gastroenterology
- Hematology
- Genetics
Background:
- Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic stem cell disorders.
- Trisomy 8 is a common chromosomal abnormality observed in MDS.
- Colonic ulcers can be a rare manifestation in patients with MDS.
Observation:
- A 54-year-old female with a 10-year history of MDS with trisomy 8 presented with abdominal pain.
- Colonoscopy revealed severe ileocecal stenosis with ulcers and a transverse colon ulcer.
- The patient exhibited no symptoms suggestive of Behçet's disease.
Findings:
- Follow-up colonoscopies showed progression of ileocecal ulceration but stability in the transverse colon lesion.
- The absence of typical extraintestinal symptoms ruled out Behçet's disease.
- Trisomy 8 was identified as the likely cause of the colonic ulcers.
Implications:
- This case highlights a potential link between trisomy 8 in MDS and the development of colonic ulcers.
- It underscores the importance of considering chromosomal abnormalities in the etiology of gastrointestinal manifestations in MDS patients.
- Further research may elucidate the specific mechanisms by which trisomy 8 contributes to colonic ulceration.
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