Prevalence and risk

FISH helps identify cytogenetic abnormalities in Multiple Myeloma ^3,5

Comprehensive FISH testing enables accurate stratification of individuals with newly diagnosed Multiple Myeloma into risk groups for prognosis and selection of therapy. ^1,3,6,7

Over 90% of the translocations observed in all Multiple Myeloma cases involve chromosome 14. Most recurrent translocations involving chromosome 14 are regarded as primary cytogenetic events that initiate tumor development. ⁴

IgH translocations are observed in 50% - 70% of all Multiple Myeloma cases ⁴

Prognostic implications of IgH translocations ⁹

Mayo Clinic mSMART 3.0 risk stratification guidelines classify the following translocations* as either standard or high-risk events:

_{* this is not an exhaustive list.
Standard risk is defined as having an indolent course of disease and lengthy survival, while high-risk patients experience a more aggressive course and shorter survival.}

Clinical Practice Guidelines ^10,11

Clinical Practice guidelines for diagnosis, treatment and follow-up for Multiple Myeloma recommend karyotype and FISH for detection of del17p, t(4;14), t(14;16), ampl 1q/ gain 1q, t(11;14)^* and t (14;20)^#

_{* in S3-guideline only recommended optional, # not recommended in EHA-ESMO guidelines but in S3-guidelines}

_{FISH = fluorescence in situ hybridization.
Comprehensive FISH testing = plasma cell enrichment prior to FISH}

Plasma cell enrichment

In Multiple Myeloma, precise detection of cytogenetic abnormalities matters. That’s why it’s important to advocate for plasma cell enrichment prior to a FISH test for every patient (=comprehensive FISH testing).

Plasma cell enrichment increases FISH sensitivity and accuracy for cytogenetic abnormalities in Multiple Myeloma patients ^5,12,13

For these reasons, it is important that plasma cell enrichment is performed prior to FISH testing.

Together with FISH testing, plasma cell enrichment of the bone marrow sample can improve detection of cytogenetic abnormalities by almost 3x ⁷

Plasma cell enrichment is recommended prior to FISH testing by current guidelines: 

• The International Myeloma Working Group ⁶
• EHA-ESMO Clinical Practice Guidelines ¹⁰
• S3-Guidelines ¹¹

_{FISH = fluorescence in situ hybridization.
Comprehensive FISH testing = plasma cell enrichment prior to FISH}

Personalised Patient Care

Comprehensive cytogenetic testing can foster personalised patient care

1. Personalised medicine has the potential to transform medical interventions by providing effective tailored therapeutic strategies based on the genomic, epigenomic, and proteomic profiles of the individual.

2. Improving the sensitivity of FISH will provide more information about patient characteristics and may provide additional information about cytogenetic abnormalities, which may assist doctors in providing personalised care. ^1,7 

3. Personalised medicine enables hematologists to stratify individuals into subpopulations that vary in their response to a therapeutic agent for their specific disease.