Case reports in gastrointestinal medicine · 2026
Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review.
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Niu Zhan-Yue, Zhu Ming-Fei, Tao Ming, Zhang Cheng, Gu Fang, Li Jun
Аннотация
BACKGROUND: Myelodysplastic syndromes (MDSs) are clonal hematopoietic disorders often associated with cytogenetic abnormalities, among which trisomy 8 is one of the most common abnormalities. Trisomy 8 is linked to autoimmune manifestations, including Behçet-like disease, especially with gastrointestinal involvement.
CASE PRESENTATION: We report a rare and severe case of a 59-year-old male with MDS characterized by a complex abnormal karyotype, including trisomy 8, accompanied by multiple ileal perforations and intestinal ulcers resembling Behçet's disease. Despite surgical intervention and broad-spectrum antimicrobials, recurrent symptoms persisted. A combination of corticosteroids and thalidomide ultimately led to clinical and hematologic improvement.
METHODS: Clinical, radiologic, histopathologic, and cytogenetic data were collected. Literature review was conducted to contextualize diagnostic criteria and treatment strategies.
RESULTS: The patient showed hematologic and symptomatic improvement following immunosuppressive therapy. Chromosome karyotype analysis revealed chromosomal numerical abnormalities, including trisomy of chromosomes 8, 9, and 15 and the presence of an extra Y chromosome. Gastrointestinal involvement with recurrent perforations was attributed to Behçet-like intestinal disease.
CONCLUSION: This case underscores the aggressive clinical course and diagnostic challenges of Behçet-like disease associated with MDS and trisomy 8, highlighting the importance of early recognition and immune-targeted therapy.
CASE PRESENTATION: We report a rare and severe case of a 59-year-old male with MDS characterized by a complex abnormal karyotype, including trisomy 8, accompanied by multiple ileal perforations and intestinal ulcers resembling Behçet's disease. Despite surgical intervention and broad-spectrum antimicrobials, recurrent symptoms persisted. A combination of corticosteroids and thalidomide ultimately led to clinical and hematologic improvement.
METHODS: Clinical, radiologic, histopathologic, and cytogenetic data were collected. Literature review was conducted to contextualize diagnostic criteria and treatment strategies.
RESULTS: The patient showed hematologic and symptomatic improvement following immunosuppressive therapy. Chromosome karyotype analysis revealed chromosomal numerical abnormalities, including trisomy of chromosomes 8, 9, and 15 and the presence of an extra Y chromosome. Gastrointestinal involvement with recurrent perforations was attributed to Behçet-like intestinal disease.
CONCLUSION: This case underscores the aggressive clinical course and diagnostic challenges of Behçet-like disease associated with MDS and trisomy 8, highlighting the importance of early recognition and immune-targeted therapy.