title: The role of molecular studies in lymphoma diagnosis: a review.
abstract: Lymphoma classification is based on a multiparametric approach to diagnosis, in which clinical features, morphology, immunophenotype, karyotype and molecular characteristics are important to varying degrees. While in most cases, a diagnosis can be confidently established on the basis of morphology and immunophenotype alone, a small proportion of diagnostically difficult cases will rely on molecular studies to enable a definitive diagnosis. This review discusses the various molecular techniques available including Southern blotting (SB), polymerase chain reaction (PCR), fluorescence in situ hybridisation (FISH)--including multicolour-FISH/spectral karyotyping and comparative genomic hybridisation--and also gene expression profiling using cDNA microarray technology. Emphasis is given to the analysis of antigen receptor gene rearrangements and chromosomal translocations as they relate to lymphoma diagnosis and also in the setting of minimal residual disease (MRD) detection and monitoring. Laboratories performing these tests need to have expertise in these areas of testing, and there is a need for greater standardisation of molecular tests. It is important to know the sensitivity and specificity of each test as well as its limitations and the pitfalls in the interpretation of results. Above all, results of molecular testing should never be considered in isolation, and must always be interpreted in the context of clinical and other laboratory data.
authors.affiliation: Division of Tissue Pathology, The Western Australian Centre for Pathology and Medical Research (PathCentre), Nedlands, WA, Australia. dominic.spagnolo@health.wa.gov.au
authors.forename: Dominic V
authors.initials: DV
authors.lastname: Spagnolo
authors.forename: David W
authors.initials: DW
authors.lastname: Ellis
authors.forename: Surender
authors.initials: S
authors.lastname: Juneja
authors.forename: Anthony S-Y
authors.initials: AS
authors.lastname: Leong
authors.forename: John
authors.initials: J
authors.lastname: Miliauskas
authors.forename: Debra L
authors.initials: DL
authors.lastname: Norris
authors.forename: Jenny
authors.initials: J
authors.lastname: Turner
mesh_terms: D015139:Blotting, Southern; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008223:Lymphoma / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques / Q000379:methods; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity