1544 – Genome-wide microarray testing for people with multiple myeloma and chronic lymphocytic leukaemia

Amendment to MBS item.

Microarray is a general term used for a number of different complex technologies that are used to study the whole genome for both loss of DNA segments (deletion) and gain of DNA segments (duplication). These deletions and duplications are collectively referred to as copy-number variations. Microarray can detect copy-number variations that are too small to be seen by conventional chromosome analysis.

Extend genome-wide microarray testing (MBS item 73292) to use in one additional population and setting:

• For two specific chronic haematological malignancies, chronic lymphocytic leukaemia (CLL) and multiple myeloma (MM), often as an adjunct or alternative testing method to current investigations. MSAC consideration of the use of this test in this second population is also supported by the Haematology Working Group of the Pathology Clinical Committee (PCC).

Type: Investigative

Chronic lymphocytic leukaemia (CLL) is a lymphoproliferative disease that produces immunologically immature cells. These cells accumulate in peripheral blood and have a solid component that can be found primarily in lymph nodes and bone marrow. The incidence of the disease increases with age, as does the mortality rate.

Management of CLL is dictated by the stage, presence of symptoms and individual patient preference. Current treatment for CLL ranges from monotherapy to combination therapy with chemotherapy and immunomodulatory agents.

Multiple Myeloma (MM) is cancer of the plasma cells in bone marrow. Widespread growth of the malignant plasma cells in the bone marrow leaves little room for normal blood cells, causing a range of problems including weak bones, anaemia and reduced immunity.

MM is rarely seen in people under 40 years of age. There is not cure but the condition can usually be managed successfully for several years. MM is characterised by a profound genomic heterogeneity that involves both numerical and structural chromosomal rearrangements (Fonseca et al, 2004). The evidence to incorporate the use of chromosome microarrays in CLL and MM has been emerging in the scientiic literature in the last 8 years.

• PASC meeting: 6 to 7 December 2018
• ESC meeting: 10 to 11 October 2019
• MSAC meeting: 28 to 29 November 2019