Intini D, Baldini L, Fabris S, Lombardi L, Ciceri G, Maiolo A T, Neri A
Servizio Ematologia, Dipartimento di Scienze Mediche, Università di Milano, Ospedale Maggiore di Milano, IRCCS, Milano, Italy.
Br J Haematol. 2001 Aug;114(2):362-4. doi: 10.1046/j.1365-2141.2001.02957.x.
The t(4;14)(p16.3;q32) in multiple myeloma (MM) leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. FGFR3 mutations, known to be associated with genetic skeletal disorders, have also been identified in a few cases of MM (mainly cell lines) with t(4;14). We investigated FGFR3 mutations in a series of 53 MM cases; 11 cases with t(4;14) and FGFR3 overexpression were analysed using reverse transcription polymerase chain reaction, while the remaining cases were studied at DNA level. The Arg248Cys mutation, which is associated with some lethal forms of skeletal disorders, was found in one case with t(4;14). Our results indicate that FGFR3 mutations occur in only a small fraction of MM cases with t(4;14).
多发性骨髓瘤（MM）中的t(4;14)(p16.3;q32)导致FGFR3和WHSC1/MMSET基因明显失调。已知与遗传性骨骼疾病相关的FGFR3突变，也在少数伴有t(4;14)的MM病例（主要是细胞系）中被发现。我们调查了53例MM病例中的FGFR3突变；对11例伴有t(4;14)且FGFR3过表达的病例使用逆转录聚合酶链反应进行分析，而其余病例则在DNA水平进行研究。在1例伴有t(4;14)的病例中发现了与某些致死性骨骼疾病形式相关的Arg248Cys突变。我们的结果表明，FGFR3突变仅发生在少数伴有t(4;14)的MM病例中。
