PMID- 21356186 OWN - NLM STAT- MEDLINE DCOM- 20110427 LR - 20110301 IS - 2210-7762 (Print) VI - 204 IP - 1 DP - 2011 Jan TI - The prognostic significance of cytogenetics and molecular profiling in multiple myeloma. PG - 3-12 LID - 10.1016/j.cancergencyto.2010.11.002 [doi] AB - Multiple myeloma (MM) is a plasma cell malignancy characterized by very complex cytogenetic and molecular genetic aberrations. In newly diagnosed symptomatic patients, the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearrangements are two genetic criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH). In general, the hypodiploid group with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered a high-risk group, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group. As the disease progresses, it becomes more proliferative and develops a number of secondary chromosome aberrations. These secondary aberrations commonly involve MYC rearrangements, del(13q), del(17p), and the deletion of 1p and/or amplification of 1q. Of the secondary aberrations, del(17p) is consistently associated with poor prognosis. All of these cytogenetic aberrations and many additional ones are now identified by means of high resolution molecular profiling. Gene expression profiling (GEP), array comparative genomic hybridization (aCGH), and single-nucleotide polymorphism (SNP) arrays have been able to identify novel genetic aberration patterns that have previously gone unrecognized. With the integration of data from these profiling techniques, new subclassifications of MM have been proposed which define distinct molecular genetic subgroups. In this review, the findings from conventional cytogenetics, interphase FISH, GEP, aCGH, and SNP profiles are described to provide the conceptual framework for defining the emerging molecular genetic subgroups with prognostic significance. CI - Copyright (c) 2011 Elsevier Inc. All rights reserved. FAU - Sawyer, Jeffrey R AU - Sawyer JR AD - Department of Pathology and Myeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, Little Rock, AR, USA. sawyerjeffreyr@uams.edu LA - eng PT - Journal Article PT - Review PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 SB - IM MH - Chromosome Deletion MH - Chromosomes, Human, Pair 1/ultrastructure MH - Chromosomes, Human, Pair 13/ultrastructure MH - Chromosomes, Human, Pair 17/ultrastructure MH - Comparative Genomic Hybridization MH - Cytogenetic Analysis/methods MH - Cytogenetics MH - Gene Expression Profiling MH - Humans MH - Karyotyping MH - Medical Oncology/methods MH - Multiple Myeloma/*diagnosis/*genetics/metabolism MH - Prognosis EDAT- 2011/03/02 06:00 MHDA- 2011/04/28 06:00 CRDT- 2011/03/02 06:00 PHST- 2010/11/01 00:00 [received] PHST- 2010/11/01 00:00 [accepted] PHST- 2011/03/02 06:00 [entrez] PHST- 2011/03/02 06:00 [pubmed] PHST- 2011/04/28 06:00 [medline] AID - S0165-4608(10)00564-9 [pii] AID - 10.1016/j.cancergencyto.2010.11.002 [doi] PST - ppublish SO - Cancer Genet. 2011 Jan;204(1):3-12. doi: 10.1016/j.cancergencyto.2010.11.002.