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嗜铬细胞瘤/副神经节瘤基因突变相关遗传综合征

邓建华 李汉忠

邓建华, 李汉忠. 嗜铬细胞瘤/副神经节瘤基因突变相关遗传综合征[J]. 协和医学杂志, 2015, 6(3): 161-165. doi: 10.3969/j.issn.1674-9081.2015.03.001
引用本文: 邓建华, 李汉忠. 嗜铬细胞瘤/副神经节瘤基因突变相关遗传综合征[J]. 协和医学杂志, 2015, 6(3): 161-165. doi: 10.3969/j.issn.1674-9081.2015.03.001

嗜铬细胞瘤/副神经节瘤基因突变相关遗传综合征

doi: 10.3969/j.issn.1674-9081.2015.03.001
详细信息
    通讯作者:

    李汉忠 电话:010-69156035, E-mail:lihzhpumch@medmail.com.cn

  • 中图分类号: R736.6;R394.3

  • 表  1  嗜铬细胞瘤/副神经节瘤相关基因突变[4-16, 39]

    突变基因 综合征 占所有PCC/PGL
    比例(%)
    年龄
    (岁)
    PCC比例
    (%)
    PGL比例
    [%(交感/副交感)]
    恶性比例
    (%)
    RET MEN2 5.3 35.6(4~73) 10002.9
    VHL VHL 9.0 28.6(5~67) 90.3 18.6(5.9/ 8.8) 3.4
    NF1 NF1 2.9 41.6(1~74) 95.3 6.1(6.1/ 0) 9.3
    SDHD PGL1 7.1 35.0(10~96) 23.9 91.5(22.0/84.4) 3.5
    SDHAF2 PGL2 0 32.2(20~59) 0 100 (0 /100) 0
    SDHC PGL3 0.5 42.7(13~73) 0 100 (7.1/92.9) 0
    SDHB PGL4 5.5 32.7(6~77) 25.2 77.5(70.7/24.4) 30.7
    SDHA HNPGL < 3 40.0(27~55) 16.7 83.3(50.0/33.3) 0~14.3
    KIF1Bβ - 0 46.0(22~70) 100 0 0
    EGLN1 - 0 43.0 0 100 (100 / 0) 0
    TMEM127 - < 2 42.8(21~72) 95.7 8.7(4.3/ 4.3) 4.3
    MAX - NA 32.2(17~47) 100 0 25.0
    SDHB, C, D Carney-Stratakis综合征 0 33.0(10~61) 9.1 100 0
    MEN1 MEN1 0 30.5(29~32) 100 0 14.3
    未突变 散发性 70 48.3(5~93) 72.9 29.1(8.8/20.3) 8.9
    PCC:嗜铬细胞瘤;PGL:副神经节瘤;NA:未见报道
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出版历程
  • 收稿日期:  2014-12-09
  • 刊出日期:  2015-05-30

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