PMID- 12648063 OWN - NLM STAT- MEDLINE DCOM- 20030807 LR - 20190705 IS - 0007-1048 (Print) IS - 0007-1048 (Linking) VI - 120 IP - 6 DP - 2003 Mar TI - Cytogenetics of multiple myeloma: interpretation of fluorescence in situ hybridization results. PG - 944-52 AB - The cytogenetic picture in multiple myeloma (MM) is highly complex, from which non-random numerical and structural chromosomal changes have been identified. Specifically, translocations involving the immunoglobulin heavy chain gene (IGH) at 14q32 and either monosomy or deletions of chromosome 13 have been reported in a significant number of patients from both cytogenetic and interphase fluorescence in situ hybridization (FISH) studies. Importantly, these abnormalities of chromosome 13 have recently been associated with a poor prognosis. In view of the highly complex nature of the karyotypes in MM patients, interphase FISH results may be difficult to interpret. In this study, cytogenetics and/or interphase FISH were carried out on bone marrow samples or purified plasma cells from 37 MM patients. Abnormal karyotypes, characterized by multiplex FISH (M-FISH) were found in 11 patients, all of which were highly complex. Interphase FISH revealed translocations involving the IGH locus in 16 (43%) patients. The IGH/cyclin D1 (CCND1) gene fusion characteristic of the translocation, t(11;14)(q13;q32), was seen in 12 (32%) of these patients and other rearrangements of IGH in four (11%) patients. Fourteen patients had additional copies of chromosome 11. Twenty patients (54%) had 13q14 deletions, 10 of whom also had t(11;14) or another IGH translocation. By comparing cytogenetic and FISH results, this study has revealed that significant chromosomal abnormalities might be hidden within highly complex karyotypes. Therefore, extreme caution is required in the interpretation of interphase FISH results in MM, particularly in relation to certain abnormalities, such as 13q14 deletions, which have an impact on prognosis. FAU - Harrison, Christine J AU - Harrison CJ AD - Department of Haematology, Royal Free Medical School, London. harrison@soton.acuk FAU - Mazzullo, Helen AU - Mazzullo H FAU - Cheung, Kan L AU - Cheung KL FAU - Gerrard, Gareth AU - Gerrard G FAU - Jalali, G Reza AU - Jalali GR FAU - Mehta, Atul AU - Mehta A FAU - Osier, David G AU - Osier DG FAU - Orchard, Kim H AU - Orchard KH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (Immunoglobulin Heavy Chains) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Case-Control Studies MH - *Chromosome Aberrations MH - Chromosomes, Human, Pair 11 MH - Chromosomes, Human, Pair 13 MH - Chromosomes, Human, Pair 14 MH - Cytogenetic Analysis MH - Female MH - Gene Deletion MH - Gene Rearrangement MH - Humans MH - Immunoglobulin Heavy Chains/genetics MH - In Situ Hybridization, Fluorescence MH - Interphase MH - Karyotyping MH - Male MH - Metaphase MH - Middle Aged MH - Multiple Myeloma/*genetics MH - Prognosis MH - Translocation, Genetic EDAT- 2003/03/22 04:00 MHDA- 2003/08/09 05:00 CRDT- 2003/03/22 04:00 PHST- 2003/03/22 04:00 [pubmed] PHST- 2003/08/09 05:00 [medline] PHST- 2003/03/22 04:00 [entrez] AID - 4172 [pii] AID - 10.1046/j.1365-2141.2003.04172.x [doi] PST - ppublish SO - Br J Haematol. 2003 Mar;120(6):944-52. doi: 10.1046/j.1365-2141.2003.04172.x.