In multiple myeloma, t(4;14)(p16;q32) is an adverse prognostic factor irrespective of FGFR3 expression

Blood. 2003 Feb 15;101(4):1520-9. doi: 10.1182/blood-2002-06-1675. Epub 2002 Oct 3.

Abstract

This study analyzed the frequency and clinical significance of t(4;14)(p16;q32) in multiple myeloma (MM) among 208 patients with MM and 52 patients with monoclonal gammopathy of undetermined significance (MGUS); diagnosed between 1994 and 2001. Patients with the translocation were identified using reverse transcription-polymerase chain reaction (RT-PCR) to detect hybrid immunoglobulin heavy chain (IgH)-MMSET transcripts from the der(4) chromosome. We found 31 (14.9%) t(4;14)(+) MM patients and 1 (1.9%) t(4;14)(+) MGUS patient. IgH-MMSET hybrid transcripts were detected in bone marrow (BM) and blood. Breakpoint analysis revealed that 67.7% of t(4;14)(+) patients expressed hybrid transcripts potentially encoding full-length MMSET, whereas the remainder lacked one or more amino terminal exons. Expression of fibroblast growth factor receptor 3 (FGFR3), presumptively dysregulated on der(14), was detected by RT-PCR in only 23 of 31 (74%) patients with t(4;14)(+) MM. Patients lacking FGFR3 expression also lacked detectable der(14) products. Longitudinal analysis of 53 MM patients with multiple BM and blood samples showed that, over time, BM from t(4;14)(+) patients remained positive and that t(4;14)(-) patients did not acquire the translocation. IgH-MMSET hybrid transcripts and FGFR3 transcripts disappeared from blood during response to therapy. No correlation was observed between the occurrence of t(4;14) and known prognostic indicators. However, we find the t(4;14) translocation predicts for poor survival (P =.006; median, 644 days vs 1288 days; hazard ratio [HR], 2.0), even in FGFR3 nonexpressors (P =.003). The presence of t(4;14) is also predictive of poor response to first-line chemotherapy (P =.05). These results indicate a significant clinical impact of the t(4;14) translocation in MM that is independent of FGFR3 expression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Bone Marrow / chemistry
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 4*
  • Female
  • Gene Expression*
  • Humans
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Multiple Myeloma / genetics*
  • Multiple Myeloma / mortality
  • Oncogene Proteins, Fusion / genetics
  • Prognosis
  • Protein-Tyrosine Kinases*
  • RNA, Messenger / analysis
  • RNA, Messenger / blood
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Survival Rate
  • Translocation, Genetic*

Substances

  • IgH-MMSET fusion protein, human
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • Receptors, Fibroblast Growth Factor
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3