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Del(5q) and inv(3) in myelodysplastic syndrome: A rare case report
Hai-Ping Liang1, Xing-Chun Luo1, Ya-Li Zhang1
1The First Clinical Medical College, Lanzhou University, Lanzhou 730000, Gansu Province, China.
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.
Insights
Myelodysplastic syndrome (MDS) with del(5q) and inv(3) presents a poor prognosis. Azacitidine may offer temporary remission in these rare MDS cases.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic stem cell disorders.
- Deletion 5q (del(5q)) is the most frequent cytogenetic abnormality in MDS.
- Inversion 3 (inv(3)) is a rare, adverse cytogenetic abnormality in MDS.
Observation:
- This report details a rare case of MDS co-occurring with both del(5q) and inv(3).
- The patient, a 66-year-old woman, presented with chest tightness and shortness of breath.
- Diagnosis was confirmed through clinical assessment and laboratory examinations.
Findings:
- The patient initially received lenalidomide for del(5q), which proved ineffective due to drug resistance.
- Subsequent treatment with azacitidine resulted in a brief period of remission.
- The patient ultimately refused hematopoietic stem cell transplantation and died from severe infection.
Implications:
- MDS patients with the combined del(5q) and inv(3) abnormalities exhibit a significantly poor prognosis.
- Azacitidine demonstrates potential for achieving short-term remission in this specific MDS subtype.
- Further research is needed to understand the pathological mechanisms and optimize treatment strategies for this rare MDS variant.
