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Myeloma Diagnosis: Exploring Different Tests, Imaging Techniques and Biopsies

When it comes to tackling multiple myeloma, early and accurate diagnosis is essential for effective treatment and improved patient outcomes. However, myeloma may not be easy to diagnose. Multiple myeloma can prove challenging to diagnose as it often presents with little to no symptoms in the early stages. However, blood tests, bone marrow assessment and imaging tests such as x-rays, MRI/PET-CT scans can be used to clarify the diagnosis of myeloma.

Additionally, a bone marrow aspiration and biopsy may also be conducted to assess the amount of myeloma involvement in the bone marrow, as well as to analyse the genes in the myeloma through something known as fluorescence in situ hybridisation (FISH) test.

With various tests available, the most definitive way to confirm a diagnosis of multiple myeloma is through a combination of blood tests and bone marrow assessment. We will delve into the different diagnostic approaches and what you can expect for each test.

 

Blood & Urine Test

A blood and urine test is used as one of the various tests needed for a myeloma diagnosis. It is used to identify an abnormal protein. This protein is known as the monoclonal protein or M-protein. A blood test is also used to examine the levels of different proteins such as M protein, serum-free light chains, beta-2-microglobulin (β2M), albumin, and immunoglobulins, which can help in the diagnosis of Myeloma.

The blood sample is typically taken from the arm or hand while a urine test will require you to provide a urine sample by placing it in a container. In some cases, your doctor might request a 24-hour urine collection, which involves taking a container home to collect your urine throughout the day and night. The blood and urine sample will then be sent to the laboratory for necessary tests.

 

Imaging Tests

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Some patients may wonder if multiple myeloma can show up on X-Ray or MRI. Both an X-ray and an MRI scan are often used to diagnose bone involvement by multiple myeloma. They may show features that are suggestive of myeloma involvement, however it cannot fully diagnose myeloma based on radiological changes alone.

During an X-ray, you will be asked to position yourself according to the specific area being examined, and a technologist will take images using a low dose of radiation. 

On the other hand, an MRI scan involves lying down on a movable table that slides into a tunnel-like machine. The scan is painless and you may be offered earplugs or headphones to make the experience more comfortable.

Currently, a PET-CT scan is most commonly used as an imaging test for myeloma diagnosis. During a PET-CT scan, you will first be given an IV injection of a radiotracer and contrast dye for clearer images to highlight the areas of your body where cells are more active than normal. After that, you will lie on a table that slides into a tunnel machine. The process will take about 30 minutes.

Bone Marrow Procedure

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When it comes to diagnosing myeloma, a bone marrow test is a crucial procedure used by medical professionals. 

Prior to the procedure, patients are administered a local anaesthesia to minimise discomfort. Our doctor will then extract a small amount of bone marrow from the hip bone. Patients can expect the procedure to be relatively quick and painless, similar to drawing blood. 

Once the sample is collected, it is sent to the laboratory for analysis, where specialised tests like flow cytometry, cytogenetics and FISH test are performed to assess the presence of abnormal plasma cells.

Flow Cytometry

A flow cytometry test for myeloma diagnosis is a sophisticated diagnostic procedure that utilises fluorescent markers to analyse and quantify specific proteins on the surface of myeloma cells. By analysing the fluorescence patterns, flow cytometry can accurately identify and count abnormal plasma cells, which are characteristic of myeloma.

This test is also used to track the disease response to treatments and examine minimal residual disease post-treatment.

Cytogenetics (Karyotype)

A karyotype test is a specialised diagnostic procedure that examines the chromosomes in the cells of a patient’s bone marrow. This test focuses on identifying any structural abnormalities or changes in the chromosomes, which are vital in determining the characteristics and aggressiveness of myeloma. 

By analysing the genetic makeup of myeloma cells, cytogenetics helps healthcare professionals make accurate diagnoses, predict disease progression, and tailor appropriate treatment.

FISH Test

A FISH test, or fluorescence in situ hybridisation test, is used to test for gene changes or mutations in cells. Our doctors may order a FISH test to look for specific changes in cells, indicating the presence of myeloma. This may include the production of a particular protein, an increased production of protein, or the lack of a specific protein.

Tissue Biopsy

Sometimes if the myeloma presents as a tissue mass (known as a plasmacytoma) then a tissue biopsy of the affected site may be required. A tissue biopsy will surgically remove the tissue site for testing or via a targeted biopsy like an ultrasound scan or CT guided biopsy. 

Understand Your Diagnostic Options With CFCH

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For advice on which diagnostic tests are suitable for you, contact the CFCH team and we will assist you on your diagnosis and treatment journey. 

Disclaimer:
The information on the Centre For Clinical Haematology website is intended for educational use.  It should not be considered or used as a substitute for medical advice, diagnosis or treatment from a qualified health professional.

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