Close relation between 14q32/IGH translocations and chromosome 13 abnormalities in multiple myeloma: a high incidence of 11q13/CCND1 and 16q23/MAF
Close relation between 14q32/IGH translocations and chromosome 13 abnormalities in multiple myeloma: a high incidence of 11q13/CCND1 and 16q23/MAF
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DOI：
10.1007/s12185-008-0039-x
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发表时间：
2008-02
影响因子：
2.1
通讯作者：
Madoka Takimoto;K. Ogawa;Y. Kato;Tasuku Saito;Takao Suzuki;Michiko Irei;Y. Shibuya;Yoshinori Suzuki;Masayuki Kato;Y. Inoue;Masatomo Takahashi;H. Sugimori;I. Miura
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文献类型：
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作者：
Madoka Takimoto;K. Ogawa;Y. Kato;Tasuku Saito;Takao Suzuki;Michiko Irei;Y. Shibuya;Yoshinori Suzuki;Masayuki Kato;Y. Inoue;Masatomo Takahashi;H. Sugimori;I. Miura
许多B细胞肿瘤具有由免疫球蛋白（IG）基因在V（D）J重组、体细胞超突变（SHM）和类别转换重组（CSR）期间的失败引起的染色体易位。近一半的多发性骨髓瘤（MM）患者在CSR中存在14 q32/IGH易位，包括11 q13/CCND 1、6p 21/CCND 3、4p 16/FGFR 3、16 q23/MAF和20 q11/MAFB五种常见易位。尽管14 q32/IGH易位与MM的生物学特征密切相关，但据报道，最一致和最有力的预后因素是13号染色体的全部（13/−13单体）或部分（del（13）（q14）/13 q −）丢失。我们的荧光原位杂交（FISH）分析方法旨在检测23例MM患者的−13/13 q −和14 q32/IGH重排。23例患者中10例（43.5%）发生14 q32/IGH易位。14 q32/IGH的常见易位伴侣为11 q13/CCND 1（5例）和16 q23/MAF（4例），其次为4p 16/FGFR 3（1例）。10名携带14 q32/IGH易位的患者中有9名为−13/13 q −。13号染色体的缺失包括7例（70%）的−13和2例（20%）的del（13）（q14）。我们的研究结果表明，MM患者中14 q32/IGH易位的存在与13号染色体异常之间存在显著相关性（P= 0.0276）。
Many B-cell tumors have chromosomal translocations that result from failures of the immunoglobulin (Ig) gene during V(D)J recombination, somatic hypermutation (SHM), and class switch recombination (CSR). Nearly half of all multiple myeloma (MM) patients have 14q32/IGHtranslocations in CSR, including the five common translocations of 11q13/CCND1, 6p21/CCND3, 4p16/FGFR3, 16q23/MAF, and 20q11/MAFB. Although 14q32/IGHtranslocations are closely related to the biological features of MM, the most consistent and powerful prognostic factor has been reported to be the loss of all (monosomy 13/−13) or part of chromosome 13 (del(13)(q14)/13q−). Our fluorescence in situ hybridization (FISH) analysis method was designed to detect −13/13q− and 14q32/IGHrearrangements in 23 MM patients. FISH disclosed 14q32/IGHtranslocations in 10 of the 23 (43.5%) patients. The common translocation partners of 14q32/IGHwere 11q13/CCND1(five patients) and 16q23/MAF(four patients), followed in third place by 4p16/FGFR3(one patient). Nine of the ten patients carrying 14q32/IGHtranslocations had −13/13q−. Abnormalities of chromosome 13 included −13 in seven (70%) and del(13)(q14) in two (20%). Our results suggest a significant correlation between the presence of 14q32/IGHtranslocations and chromosome 13 abnormalities (P= 0.0276) in MM patients.