Abstract

While no specific genetic markers are required in the diagnosis of multiple myeloma (MM), multiple genetic abnormalities and gene signatures are used in disease prognostication and risk stratification. This is particularly important for the adequate identification of the high-risk MM group, which does not benefit from any of the current therapies, and novel approaches need to be proposed. Fluorescence in situ hybridization (FISH) has been employed for establishing risk-based stratification and still remains the most used genetic technique in the clinical routine. The incorporation of gene expression profiling (GEP) in the study of MM has shown to be a very powerful test in the patient stratification, but its incorporation in clinical routine depends on some technical and logistic resolutions. Thus, FISH still remains the gold standard test for detecting genomic abnormalities and outcome discrimination in MM.

Highlights

  • Multiple Myeloma (MM) is a malignancy characterized by accumulation of clonal antibody-secreting plasma cells [1]

  • While no specific genetic markers are used for MM diagnosis, multiple genetic abnormalities have been associated with malignant transformation and disease progression [2,3,4,5]

  • Several classifications have been proposed based on the identification of the genomic changes that help to discriminate between different genetic groups of MM patients [3, 6,7,8,9]

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Summary

Background

Multiple Myeloma (MM) is a malignancy characterized by accumulation of clonal antibody-secreting plasma cells [1]. While no specific genetic markers are used for MM diagnosis, multiple genetic abnormalities have been associated with malignant transformation and disease progression [2,3,4,5]. The identification of genetics aberrations was greatly improved after the implementation of analytic tools capable to overcome the technical limitations related to low proliferation of the myeloma cell. The dissection of the genetic landscape has provided important genetic markers with demonstrated clinical and disease stratification value [5, 13,14,15]

Cytogenetic Prognostic Markers—FISH
Findings
Comprehensive Genomic Tools in MM Risk Stratification
Full Text
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