Description of Medical ServiceFluorescent in situ hybridization (FISH) is a molecular cytogenetic technique used to test the presence or absence of specific chromosome regions and is often used to detect chromosome deletions such as deletion 17p. This involves using a specific DNA probe which recognises the region to be tested. The probe is labelled with a fluorescent dye and is hybridised to the chromosomes on a microscope slide. It will only stick to its matched region. In a normal cell this will give two signals (one from each chromosome) and in a cell with a deletion will give only one signal.
The high sensitivity and specificity of FISH and the speed with which the assays can be performed have made FISH a pivotal cytogenetic technique that has provided significant advances in both the research and diagnosis of haematological malignancies, including CLL/SLL.
Description of Medical ConditionChronic lymphocytic leukaemia (CLL), and small lymphocytic lymphoma (SLL), are life-threatening B-cell malignancies which originate in bone marrow and result in abnormally high numbers of white blood cells. The prognosis of CLL and SLL are similar and the existing approaches to management are consistent with one another. The treatment and outlook of CLL and SLL are identical and, according to the WHO classification, they are considered to be the same entity. Both CLL and SLL are incurable diseases with conventional therapies, with their natural history being one of repeated relapse.The poor prognosis of the subgroup of CLL/SLL patients harbouring a 17p deletion, coupled with their poor response to many of the chemotherapeutic agents frequently used to treat CLL/SLL (Stilgenbauer et al., 2014, Hallek et al., 2010, Zenz et al., 2010) results in a significant unmet clinical need for treatments that have a therapeutic effect in 17p deletion patients.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application NumberNot Applicable
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