To report a rare case of smoldering multiple myeloma (SMM) coexisting with activated phosphoinositide 3-kinase δ syndrome (APDS), highlighting its significance in the context of existing literature.
Key Findings:
The patient had a heterozygous PIK3CD gene mutation (c.1002C>G, p.Asn334Lys), which may have implications for her treatment.
Clinical manifestations included recurrent respiratory infections, lymphoproliferation, and elevated immunoglobulin levels, indicating a complex interplay of symptoms.
This is the first reported case of APDS coexisting with SMM, expanding the understanding of APDS-related malignancies.
Interpretation:
Early genetic sequencing can facilitate timely diagnosis of APDS, improve prognosis, and inform clinical management strategies.
Limitations:
The study is based on a single case report, limiting generalizability; further studies are needed to validate these findings.
Long-term outcomes and treatment responses in this patient are not detailed, highlighting the need for ongoing monitoring.
Conclusion:
This case expands the known tumor spectrum associated with APDS and provides insights into potential links between PI3K signaling dysregulation and plasma cell disorders, emphasizing the need for further research in this area.
