Diagnosing acute lymphoblastic leukaemia (ALL)

ALL may be suspected on a simple blood test called a Full Blood Count (FBC) and a blood film that a doctor can observe under a microscope. The detailed diagnosis is made by undertaking a bone marrow test. This is a procedure that is also essential to diagnose the subtype of ALL which helps to determine which further treatments may be needed and gives information about prognosis.

The procedure itself is in two parts that are undertaken concurrently by the specialist Doctor or Nurse. A local anaesthetic is given to you around the back of the hipbone when you are lying on your side - after giving this time to numb the area, the procedure will begin. The bone marrow aspirate will take a sample of fluid extracted via a syringe and needle and this is spread on glass slides (to examine under the microscope) and placed in sample bottles that will be sent to the specialist laboratory. There will also be a core of the bone marrow taken with a larger bore needle. This is called a trephine biopsy and is examined by microscopy. Both the aspirate and trephine are important for diagnosis and assessment of disease response.

Cytogenetic (chromosomal) and molecular DNA tests are carried out on blood and bone marrow samples to identify the genetic makeup of the leukaemia cells. There are many specific genetic variations that can occur in ALL, and knowing the exact type of ALL you have can help doctors decide the most appropriate treatment.

If you have been diagnosed with ALL, further biopsies may be carried out on any enlarged lymph nodes that you have.

You may have scans to assist with making your diagnosis and assessing your clinical condition. These scans may vary so please visit bloodcancer.org to review the different types of scan and other diagnostic testing.

Leukaemia cells can enter the fluid that bathes the spine and brain (cerebrospinal fluid) and a lumbar puncture will be required to investigate this possibility.

A lumbar puncture is a test where a fine needle is used under local anaesthetic to extract a sample of cerebrospinal fluid from your back. The fluid is tested to determine whether any leukaemia cells are present.