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Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases
dc.creator | Hadzidimitriou, A. | en |
dc.creator | Stamatopoulos, K. | en |
dc.creator | Belessi, C. | en |
dc.creator | Lalayianni, C. | en |
dc.creator | Stavroyianni, N. | en |
dc.creator | Smilevska, T. | en |
dc.creator | Hatzi, K. | en |
dc.creator | Laoutaris, N. | en |
dc.creator | Anagnostopoulos, A. | en |
dc.creator | Kollia, P. | en |
dc.creator | Fassas, A. | en |
dc.date.accessioned | 2015-11-23T10:29:25Z | |
dc.date.available | 2015-11-23T10:29:25Z | |
dc.date.issued | 2006 | |
dc.identifier.issn | 3906078 | |
dc.identifier.uri | http://hdl.handle.net/11615/28299 | |
dc.description.abstract | Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH and IGK/IGL rearrangements in 101 MM patients so as to gain insight into: (i) IG repertoires; (ii) antigen impact; (iii) the role of receptor editing. Design and Methods. Bone marrow aspirates were collected from all cases. IGHV-(D)-J and IGLV-J rearrangements were amplified by reverse transcriptase polymerase chain reaction (PCR). In all cases, IGKV-J rearrangements were analyzed in parallel on cDNA/genomic DNA. IGKV-KDE and IGKJ-C-INTRON-KDE were also amplified by DNA-PCR. RT-PCR products were directly sequenced. Results. IGHV3 genes predominated; the IGHV4-34 gene was used in only one case. Five IGKV and five IGLV genes accounted fcr the majority of in-frame, transcribed IGKV-J or IGLV-J rearrangements. Taking IGKV-J, IGKV-KDE and IGKJ-C-INTRON-KDE rearrangements together, biallelic IGK locus rearrangements were detected in 22/43 κ-MM cases. In λ-MMM, 36/42 cases had at least one rearranged IGK allele; 8/19 IGKV-J rearrangements in λ-MM were in-frame. All in-frame, transcribed IGH/IGK/IGL sequences were mutated; parallel heavy/light chain analysis demonstrated a comparable impact of somatic hypermutation. Interpretation and Conclusions. Biases in IG repertoire did not seem disease-related but followed a similar pattern to that of the normal repertoire. The under-representation of the IGHV4-34 gene provides an explanation for the paucity of autoimmune phenomena in MM. Somatic mutation patterns indicate the complementary role of MM IGH/IGK/IGL sequences in antigen recognition. Finally, the frequent inactivation of productive IGKV-J joints by secondary rearrangements in MM suggests active receptor editing. ©2006 Ferrata Storti Foundation. | en |
dc.source | Haematologica | en |
dc.source.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-33745757786&partnerID=40&md5=93b72998a0e31214da39afecb5c39a15 | |
dc.subject | κ deleting element | en |
dc.subject | Immunoglobulin repertoire | en |
dc.subject | Multiple myeloma | en |
dc.subject | antigen | en |
dc.subject | complementary DNA | en |
dc.subject | genomic DNA | en |
dc.subject | receptor | en |
dc.subject | allele | en |
dc.subject | article | en |
dc.subject | bone marrow biopsy | en |
dc.subject | controlled study | en |
dc.subject | gene amplification | en |
dc.subject | gene expression | en |
dc.subject | gene locus | en |
dc.subject | gene mutation | en |
dc.subject | gene rearrangement | en |
dc.subject | gene sequence | en |
dc.subject | genetic transcription | en |
dc.subject | heavy chain | en |
dc.subject | human | en |
dc.subject | immunoglobulin gene | en |
dc.subject | intron | en |
dc.subject | light chain | en |
dc.subject | major clinical study | en |
dc.subject | reverse transcription polymerase chain reaction | en |
dc.subject | somatic mutation | en |
dc.subject | Bone Marrow Cells | en |
dc.subject | Databases, Nucleic Acid | en |
dc.subject | Genes, Immunoglobulin | en |
dc.subject | Humans | en |
dc.subject | Immunoglobulin Heavy Chains | en |
dc.subject | Immunoglobulin Light Chains | en |
dc.subject | Mutation | en |
dc.subject | Polymerase Chain Reaction | en |
dc.subject | Reverse Transcriptase Polymerase Chain Reaction | en |
dc.title | Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases | en |
dc.type | journalArticle | en |
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