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Recommended tests for the diagnosis of myeloma and related organ dysfunction are as follows (1):

  • history and physical examinations

investigations recommended by British Committee for Standards in Haematology (BCSH)/UK Myeloma Forum (UKMF)

The UKMF/BCSH guidelines on the diagnosis and management of multiple myeloma recommends that investigation of a suspected myeloma patient should include screening tests followed by further tests to confirm the diagnosis (1).

Screening test

  • full blood count (FBC), ESR or plasma viscosity
  • urea, creatinine, calcium, albumin
  • electrophoresis of serum and concentrated urine
  • quantification of non-isotypic immunoglobulins

NICE state (2):

  • use serum protein electrophoresis and serum-free light-chain assay to confirm the presence of a paraprotein indicating possible myeloma or monoclonal gammopathy of undetermined significance (MGUS)
  • if serum protein electrophoresis is abnormal, use serum immunofixation to confirm the presence of a paraprotein indicating possible myeloma or MGUS
  • do not use serum protein electrophoresis, serum immunofixation, serum-free light-chain assay or urine electrophoresis (urine Bence-Jones protein assessment) alone to exclude a diagnosis of myeloma

Tests to establish diagnosis

  • bone marrow aspirate + trephine biopsy with plasma cell phenotyping
  • immunofixation of serum and urine
  • skeletal survey

Tests to estimate tumour burden and prognosis

  • Fluorescence in situ hybridisation (FISH) analysis
  • quantification of monoclonal protein in serum and urine
  • albumin 2 - microglobulin
  • skeletal survey

NICE state with respect to prognostic information (2):

  • when performing a bone marrow aspirate and trephine biopsy to provide prognostic information:

    • perform fluorescence in-situ hybridisation (FISH) on CD138-selected bone marrow plasma cells to identify the adverse risk abnormalities t(4;14), t(14;16), 1q gain, del(1p) and del(17p)(TP53 deletion). Use these abnormalities alongside International Staging System (ISS) scores to identify people with high-risk myeloma
    • consider performing FISH on CD138-selected bone marrow plasma cells to identify the adverse risk abnormality t(14;20), and the standard risk abnormalities t(11;14) and hyperdiploidy
    • consider performing immunophenotyping of bone marrow to identify plasma cell phenotype, and to inform subsequent monitoring
    • consider performing immunohistochemistry (including Ki-67 staining and p53 expression) on the trephine biopsy to identify plasma cell phenotype and give an indication of cell proliferation, to provide further prognostic information
  • perform serum-free light-chain assay and use serum-free light-chain ratio to assess prognosis

Tests to assess myeloma related organ impairment (ROTI)

  • FBC
  • serum urea and creatinine
  • creatinine clearance (measured or calculated)
  • calcium albumin plasma viscosity
  • tissue biopsy (or fat pad aspirate) for amyloid (if suspected)
  • quantification of non-isotypic immunoglobulins
  • skeletal survey

Special tests indicated in some patients

  • SFLC assay in oligo secretory, light chain only and non secretory disease
  • MRI, CT scan (1)

NICE state (2):

  • imaging for people with suspected myeloma

    • offer imaging to all people with a plasma cell disorder suspected to be myeloma
    • consider whole-body MRI as first-line imaging
    • consider whole-body low-dose CT as first-line imaging if whole-body MRI is unsuitable or the person declines it
    • only consider skeletal survey as first-line imaging if whole-body MRI and whole-body low-dose CT are unsuitable or the person declines them
    • do not use isotope bone scans to identify myeloma-related bone disease in people with a plasma cell disorder suspected to be myeloma

Reference:

Last reviewed 12/2019

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