Multiple myeloma other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Biopsy and genetic testing may be helpful in the diagnosis of multiple myeloma.

Bone Marrow Biopsy

• Bone marrow biopsy is usually performed to estimate the percentage of bone marrow occupied by plasma cells.
• Examination of abnormal plasma in the bone marrow is the only way to confirm a diagnosis.
• The percentage of plasma cells is also used in the diagnostic criteria of multiple myeloma.

Cytogenetic tests

• Detects any chromosomal mutations occurring in multiple myeloma such as chromosome 13 deletion or chromosome 14 translocation.

Karyotyping

A sample of blood or liquid bone marrow (from a bone marrow aspiration) is examined under the microscope to look for changes in the chromosomes. Karyotyping can find large chromosomal changes like a missing chromosome.

Fluorescent in situ hybridization (FISH)

FISH is a specific molecular genetic method used to identify chromosomal abnormalities and other genetic changes in cells using special DNA probes labelled with fluorescent dyes. FISH can find small chromosomal changes like a rearranged chromosome.

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