Clinical Report: First Case of Smoldering Multiple Myeloma with APDS
Overview
This report presents the first documented case of smoldering multiple myeloma (SMM) associated with activated phosphoinositide 3-kinase δ syndrome (APDS). The patient exhibited recurrent infections, lymphoproliferation, and elevated immunoglobulin levels, with genetic analysis confirming a PIK3CD mutation.
Background
Activated phosphoinositide 3-kinase δ syndrome (APDS) is a rare inborn error of immunity characterized by recurrent infections and increased risk of lymphoproliferative disorders. Smoldering multiple myeloma (SMM) is a pre-malignant condition that can progress to symptomatic multiple myeloma, making early diagnosis and management crucial. Understanding the relationship between APDS and SMM may provide insights into the pathogenesis of plasma cell disorders.
Data Highlights
No numerical data or trial data presented in the article.
Key Findings
The patient had a heterozygous PIK3CD mutation (c.1002C>G, p.Asn334Lys).
Clinical manifestations included recurrent respiratory infections, lymphoproliferation, and elevated serum IgM and IgG levels.
Bone marrow aspiration confirmed monoclonal plasma cell proliferation, indicative of SMM.
APDS is associated with a ~13% risk of developing lymphomas, including multiple myeloma.
This case expands the known tumor spectrum associated with APDS.
Clinical Implications
Early genetic sequencing for patients with recurrent infections and lymphoproliferation may facilitate timely diagnosis of APDS. Clinicians should be aware of the potential for SMM in patients with APDS, as it may influence management strategies.
Conclusion
This case highlights the need for awareness of the association between APDS and SMM, which may have implications for patient monitoring and treatment strategies.
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