Del(5q) and inv(3) in myelodysplastic syndrome: A rare case report

Abstract

Background: Del(5q) is the most common molecular event in myelodysplastic syndrome (MDS), accounting for 10%-15% of cases. Inv(3) is an adverse cytogenetic abnormality observed in less than 1% of MDS patients. Few studies have reported the coexistence of del(5q) and inv(3) in MDS. Therefore, the pathological mechanism, treatment strategy and prognosis of this subtype need to be elucidated.

Case summary: A 66-year-old woman was admitted to the hospital due to chest tightness and shortness of breath. Combining clinical assessments with laboratory examinations, the patient was diagnosed with MDS containing both del(5q) and inv(3). Considering the deletion of chromosome 5q, we first treated the patient with lenalidomide. When drug resistance arose, we tried azacitidine, and the patient had a short remission. Finally, the patient refused treatment with haematopoietic stem cell transplantation and died of severe infection four months later.

Conclusion: MDS patients with del(5) and inv(3) have a poor prognosis. Azacitidine may achieve short-term remission for such patients.

Keywords: Azacitidine; Case report; Del(5q); Inv(3); Lenalidomide; Myelodysplastic syndrome.