Takimoto Madoka, Ogawa Kohei, Kato Yo, Saito Tasuku, Suzuki Takao, Irei Michiko, Shibuya Yasushi, Suzuki Yoshinori, Kato Masayuki, Inoue Yasuyuki, Takahashi Masatomo, Sugimori Hiroki, Miura Ikuo
Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine, Kawasaki, Kanagawa, 218-8511, Japan.
Int J Hematol. 2008 Apr;87(3):260-5. doi: 10.1007/s12185-008-0039-x. Epub 2008 Feb 16.
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/IGH translocations in CSR, including the five common translocations of 11q13/CCND1, 6p21/CCND3, 4p16/FGFR3, 16q23/MAF, and 20q11/MAFB. Although 14q32/IGH translocations 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/IGH rearrangements in 23 MM patients. FISH disclosed 14q32/IGH translocations in 10 of the 23 (43.5%) patients. The common translocation partners of 14q32/IGH were 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/IGH translocations 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/IGH translocations and chromosome 13 abnormalities (P = 0.0276) in MM patients.
许多B细胞肿瘤存在染色体易位，这是由于免疫球蛋白（Ig）基因在V（D）J重组、体细胞超突变（SHM）和类别转换重组（CSR）过程中出现故障所致。几乎一半的多发性骨髓瘤（MM）患者在CSR过程中存在14q32/IGH易位，包括11q13/CCND1、6p21/CCND3、4p16/FGFR3、16q23/MAF和20q11/MAFB这五种常见易位。尽管14q32/IGH易位与MM的生物学特征密切相关，但据报道，最一致且有力的预后因素是13号染色体全部缺失（13号染色体单体/-13）或部分缺失（13号染色体长臂14区缺失/del(13)(q14)/13q-）。我们的荧光原位杂交（FISH）分析方法旨在检测23例MM患者中的-13/13q-和14q32/IGH重排。FISH检测发现，23例患者中有10例（43.5%）存在14q32/IGH易位。14q32/IGH的常见易位伙伴是11q13/CCND1（5例患者）和16q23/MAF（4例患者），排在第三位的是4p16/FGFR3（1例患者）。携带14q32/IGH易位的10例患者中有9例存在-13/13q-。13号染色体异常包括7例（70%）的-13和2例（20%）的del(13)(q14)。我们的结果表明，MM患者中14q32/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）。
