Myelodysplastic Syndrome With Trisomy 8 and Behçet Disease-Like Intestinal and Upper Gastrointestinal Involvement

Area of Science:

• Hematology
• Gastroenterology
• Oncology

Background:

• Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders.
• Trisomy 8 is a common cytogenetic abnormality in MDS.
• Gastrointestinal involvement in MDS is uncommon, particularly upper GI tract.

Purpose of the Study:

• To report an extremely rare case of upper gastrointestinal involvement in trisomy 8-positive myelodysplastic syndrome.
• To highlight the first reported instance of trisomy 8-positive MDS with concurrent upper and lower gastrointestinal involvement.
• To document the successful treatment outcome for this complex presentation.

Main Methods:

• Case report detailing clinical presentation, diagnostic workup, and treatment.
• Review of relevant literature on MDS with GI manifestations.
• Description of the therapeutic approach and patient follow-up.

Main Results:

• Identification of a unique case of trisomy 8-positive MDS with significant upper GI symptoms.
• Confirmation of simultaneous upper and lower gastrointestinal tract involvement in this patient.
• Successful resolution of symptoms and disease control following allogeneic bone marrow transplantation.

Conclusions:

• Trisomy 8-positive myelodysplastic syndrome can present with rare and extensive gastrointestinal involvement.
• Bone marrow transplantation is a viable and effective treatment option for MDS with complex GI manifestations.
• This case expands the understanding of the clinical spectrum of trisomy 8-positive MDS.