伴有t(9;14;11)(p13;q32;q13)的PAX5阳性浆细胞骨髓瘤，这是一种t(11;14)(q13;q32)和t(9;14)(p13;q32)的新型复杂变异易位。
PAX5-positive plasma cell myeloma with t(9;14;11)(p13;q32;q13), a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32).
作者信息
Sato Kazuyuki, Sakai Hirotaka, Kato Masayuki, Nishio Yuji, Tsuruoka Yuka, Uemura Yu, Yokoi Satoshi, Saito Tasuku, Matsunawa Manabu, Suzuki Yoshinori, Isobe Yasushi, Inoue Yasuyuki, Takahashi Masatomo, Miura Ikuo
机构信息
Division of Hematology and Oncology, Department of Internal Medicine, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, Kanagawa, 216-8511, Japan.
出版信息
Int J Hematol. 2015 Jun;101(6):608-11. doi: 10.1007/s12185-015-1749-5. Epub 2015 Jan 30.
We describe herein the case of a 64-year-old man with a diagnosis of plasma cell myeloma (PCM). A chromosome analysis based on G-banding and spectral karyotyping revealed the following complex karyotype: 46,XY,del(3)(p?), t(4;15)(q31;q24),t(9;14;11)(p13;q32;q13),add(15)(q24),add(18)(q21). Fluorescence in situ hybridization (FISH) detected one signal each for the immunoglobulin heavy chain (IGH) and cyclin D1 (CCND1) genes, and three fusion signals of IGH and CCND1. FISH analysis of metaphase spreads revealed fusion signals on the derivative chromosomes 9, 11, and 14. Immunohistochemical analysis identified abnormal expression of CCND1 and PAX5. PAX5-positive PCM is rare because the down-regulation of PAX5 is essential for the terminal differentiation of B cells into plasma cells. To the best of our knowledge, this is the first reported case of a novel complex variant translocation of t(11;14)(q13;q32) and t(9;14)(p13;q32).
我们在此描述一例64岁诊断为浆细胞骨髓瘤（PCM）的男性患者。基于G显带和光谱核型分析的染色体分析显示出以下复杂核型：46，XY，del(3)(p?)，t(4;15)(q31;q24)，t(9;14;11)(p13;q32;q13)，add(15)(q24)，add(18)(q21)。荧光原位杂交（FISH）检测到免疫球蛋白重链（IGH）基因和细胞周期蛋白D1（CCND1）基因各有一个信号，以及IGH和CCND1的三个融合信号。中期染色体铺展的FISH分析显示在衍生染色体9、11和14上有融合信号。免疫组织化学分析确定CCND1和PAX5表达异常。PAX5阳性的PCM很罕见，因为PAX5的下调对于B细胞终末分化为浆细胞至关重要。据我们所知，这是首例报道的t(11;14)(q13;q32)和t(9;14)(p13;q32)新型复杂变异易位病例。
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