New approaches to lymphoma diagnosis (original) (raw)
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The role of molecular biology in the diagnosis of lymphoid neoplasms
Frontiers in Bioscience, 2014
Introduction 3. Molecular biology in routine diagnostic practice 3.1. Chromosomal aberrations 3.1.1. Lymphomas associated with translocation t(14;18)(q32;q21) 3.1.2. Lymphomas associated with translocation t(11;14)(q13;q32) 3.1.3. Lymphomas associated with BCL6 translocations 3.1.4. Lymphomas associated with MYC translocations 3.1.5. MALT lymphoma-associated translocations 3.1.6. Translocations associated to ALK-positive Anaplastic Large Cell Lymphoma 3.2. Antigen receptor genes 3.2.1. PCR clonality tests 4. Novel Molecular Approaches in the syudy and diagnosis of lymphoid neoplasm 4.1.DNA Microarrays in the study of lymphoid neoplasms 4.1.1. The role of CGH-arrays in the study of lymphoid neoplasms 4.1.2. The role of SNP-arrays in the study of lymphoid neoplasms 4.2. Gene expression profiling (GEP) in the study of lymphoid neoplasms 4.2.1. GEP in the study of non-Hodgkin B-cell lymphomas 4.2.2. GEP in the study of non-Hodgkin T-cell lymphomas 4.3. Next-generation sequencing in the study of lymphoid neoplasms 5. Conclusions 6. Acknowledgement 7. References
The current lymphoma classification: new concepts and practical applications triumphs and woes
Annals of Saudi medicine
The World Health Organization (WHO) classification of lymphomas updated in 2008 represents an international consensus for diagnosis of lymphoid neoplasms based on the recognition of distinct disease entities by applying a constellation of clinical and laboratory features. The 2008 classification has refined and clarified the definitions of well-recognized diseases, identified new entities and variants, and incorporated emerging concepts in the understanding of lymphoid neoplasms. Rather than being a theoretical scheme this classification has used data from published literature. Recent knowledge of molecular pathways has led to identification and development of new diagnostic tools, like gene expression profiling, which could complement existing technologies. However, some questions remain unresolved, such as the extent to which specific genetic or molecular alterations define certain tumors. In general, practical considerations and economics preclude a heavily molecular and genetic ...
Molecular & Cellular Proteomics, 2006
Mantle cell lymphoma (MCL) is an aggressive lymphoid malignancy for which better treatment strategies are needed. To identify potential diagnostic and therapeutic targets, a signature consisting of MCL-associated genes was selected based on a comprehensive gene expression analysis of malignant and normal B cells. The corresponding protein epitope signature tags were identified and used to raise monospecific, polyclonal antibodies, which were subsequently analyzed on paraffin-embedded sections of malignant and normal tissue. In this study, we demonstrate that the initial selection strategy of MCLassociated genes successfully allows identification of protein antigens either uniquely expressed or overexpressed in MCL compared with normal lymphoid tissues. We propose that genome-based, affinity proteomics, using protein epitope signature tag-induced antibodies, is an efficient way to rapidly identify a number of diseaseassociated protein candidates of both previously known and unknown identities. Molecular & Cellular Proteomics 5:1072-1081, 2006.
The role of molecular studies in lymphoma diagnosis
Pathology, 2004
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.
The role of molecular studies in lymphoma diagnosis: a review
Pathology, 2004
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.
Diagnosis and classification of lymphoma: Impact of technical advances
Our current understanding of the normal lymphoid system informs the modern classification of lymphomas. B-cell, T-cell, and natural killer-cell neoplasms often recapitulate normal stages of lymphoid cell differentiation and function. Moreover, the clinical manifestations of lymphomas often reflect the normal function of lymphoid cells in vivo. The multiparameter approach to classification adopted by the Revised European and American Lymphoma and subsequent WHO classifications facilitates the interpretation of clinical and translational studies, and provides a framework for the discovery of molecular alterations that drive these tumors. An accurate and precise classification of disease entities facilitates the discovery of the molecular basis of lymphoid neoplasms in the basic science laboratory, and leads to new diagnostic tools that play a role in clinical diagnosis. Published by Elsevier Inc.
Diagnostic and prognostic significance of gene expression profiling in lymphomas
APMIS, 2007
We analyzed the frequency and regional distribution of cells with genetic abnormalities of chromosomes 1, 14, and 22 in meningiomas. This data was evaluated for correlation to the clinical outcome of the patients. Eight defined areas of each of 77 paraffin-embedded meningioma samples (59 grade I, 13 grade II, and 5 grade III) were analyzed by fluorescent in situ hybridization using bacterial artificial chromosome probes localized to chromosomes 1p36.32, 1q25.3, 14q13.3, 14q32.12, 22q11.2, and 22q12.1-3. Chromosome deletion was considered to be regionally heterogeneous if Ͻ7 regions showed cells with chromosome deletions. Deletion of 1p occurred in 35% of the grade I tumors. Distribution of cells with 1p deletion was regionally heterogeneous in 25% and homogeneous in 10% of grade I tumors. Distribution of cells with deletion of 1p was regionally heterogeneous in 23% and homogeneous in 69% of the grade II tumors. All grade III meningiomas had homogeneous distribution of cells with deletion of chromosome 1p. Distribution of cells with deletion of 14q was regionally heterogeneous in 27%
Molecular Profiling of Aggressive Lymphomas
Advances in Hematology, 2012
In the last years, several studies of molecular profiling of aggressive lymphomas were performed. In particular, it was shown that DLBCL can be distinguished in two different entities according to GEP. Specifically, ABC and GCB subtypes were characterized by having different pathogenetic and clinical features. In addition, it was demonstrated that DLBCLs are distinct from BL. Indeed, the latter is a unique molecular entity. However, relevant pathological differences emerged among the clinical subtypes. More recently, microRNA profiling provided further information concerning BL-DLBCL distinction as well as for their subclassification. In this paper, the authors based on their own experience and the most updated literature review, the main concept on molecular profiling of aggressive lymphomas.