DIAGNOSTIC APPROACH INMULTIPLE MYELOMA AND RISK ASSESSMENT
Ünal Ataş1
Güldane Cengiz Seval2
1Akdeniz University, Faculty of Medicine, Department of Internal Medicine, Antalya, Türkiye
2Ankara University, Faculty of Medicine, Department of Hematology, Ankara, Türkiye
Ataş Ü, Cengiz Seval G. Diagnostic Approach in Multiple Myeloma and Risk Assessment. In: Sevindik ÖG, editor. Multiple Myeloma and Other Plasma Cell Dyscrasias. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.21-39.
ABSTRACT
Multiple myeloma (MM) is a hematological malignancy characterized by clonal plasma cell proliferation in the bone marrow. It accounts for 1% of all malignancies and 10-15% of hematologic malignancies. The mean age at onset of MM is 70 years and a significant majority (93.1%) of patients are over 50 years of age. MM presents with diverse clinical manifestations, ranging from constitutional symptoms to end-organ damage or incidental findings. The diagnostic workup involves a comprehensive evaluation of clinical, laboratory, and imaging findings. Essential laboratory tests include complete blood count, biochemical profile, serum and urine protein and immunofixation electrophoresis, serum free light chain (sFLC) assay, and bone marrow biopsy with flow cytometry and genetic studies. Imaging modalities such as whole-body low-dose computed tomography, magnetic resonance imaging (MRI), or positron emission tomography are utilized to assess bone lesions and extramedullary disease. Clonal bone marrow plasma cells ≥10% or biopsy-proven intramedullary or extramedullary plasmacytoma and any one or more of the following myeloma defining events (CRAB (hypercalcaemia, renal insufficiency, anemia, bone lesions) or SLiM (clonal bone marrow plasma cell percentage
≥60%, involved/uninvolved sFLC ratio ≥100, >1 focal lesions on MRI studies)) is the revised and currently used diagnostic criteria for MM. Determining the prognosis in MM, which is a heterogeneous disease, prognostic evaluation allows to determine a treatment strategy and new targets for treatment, to assess the chances of disease-related survival, to better understand the patient population included in a study, and to better compare the results of similar patient populations in different studies. Prognostic factors in MM include patient-related factors such as age at diagnosis, comorbidities, presence of renal insufficiency and performance status and disease-related factors such as disease stage, genetic abnormalities, some biomarkers, plasma cell ratio in peripheral blood, morphology and properties, and extramedullary disease, at the time of diagnosis, as well as access to therapies, treatment response and minimal residual disease. The best prognostic indicator is the current staging systems strengthened with genetic indicators. The revised versions of the International Staging System (ISS) (R-ISS and R2ISS) and Mayo Additive Staging System (MASS), which is a simple staging system developed with beta-2 microglobulin and serum albumin levels, are the most widely used staging systems at diagnosis. Recent advancements in molecular profiling and risk stratification have led to the identification of ultra-high-risk MM, characterized by specific genetic abnormalities and aggressive clinical features. The diagnosis and risk assessment of MM involve a multidisciplinary approach, integrating clinical, laboratory, and imaging findings to guide personalized treatment strategies and improve patient outcomes.
Keywords: Plasma cell neoplasms; Multiple myeloma; Myeloma-defining event; Prognostic factors; Risk assesment
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