Henn Wolfram, Niedermayer Isolde, Ketter Ralf, Reichardt Sylvia, Freiler Arno, Zang Klaus D
Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.
Cancer Genet Cytogenet. 2003 Jul 1;144(1):65-8. doi: 10.1016/s0165-4608(02)00871-3.
We present karyotypes of 15 meningiomas with structural aberrations of chromosome 7, which were taken from a consecutive series of 400 cytogenetically characterized meningiomas. Twelve of these tumors (80%) displayed partial or complete monosomy 7p with a consensus deleted region of 7p12 approximately pter, in 6 of 15 cases arising from an unbalanced whole-arm t(1;7)(q11;p11), and in 4 of 15 cases from a whole-arm translocation involving other chromosomes. Other types of partial aneusomy 7 (3/15 cases) or balanced aberrations of chromosome 7 (2/15 cases) were relatively rare. In most cases (11/15), the centromeric region of chromosome 7 was involved in the rearrangements. We conclude that in meningiomas, the near-centromeric region of chromosome 7 is particularly prone to structural rearrangements most frequently resulting in monosomy 7p. The investigation of the histopathologic features of this rare cytogenetic subgroup of meningiomas showed no clear genotype/phenotype correlation. As 7 of 11 of the meningiomas with monosomy 7p belonged to World Health Organization grades II or III, which usually comprise less than 20% of all meningiomas, partial loss of 7p appears to be involved in tumor progression in meningiomas. Because monosomy 7p is typically associated with the strongly progression-associated monosomy 1p, however, monosomy 7p represents a cofactor more than a stand-alone feature of meningioma progression.
我们展示了15例伴有7号染色体结构畸变的脑膜瘤的核型,这些病例取自连续的400例经细胞遗传学特征分析的脑膜瘤。其中12例肿瘤(80%)显示7p部分或完全单体性,共同缺失区域为7p12至大约染色体末端(pter),15例中有6例源于不平衡的全臂t(1;7)(q11;p11),15例中有4例源于涉及其他染色体的全臂易位。其他类型的7号染色体部分非整倍体(3/15例)或7号染色体平衡畸变(2/15例)相对少见。在大多数病例(11/15)中,7号染色体的着丝粒区域参与了重排。我们得出结论,在脑膜瘤中,7号染色体的近着丝粒区域特别容易发生结构重排,最常导致7p单体性。对这一罕见的脑膜瘤细胞遗传学亚组的组织病理学特征研究显示,未发现明确的基因型/表型相关性。由于11例伴有7p单体性的脑膜瘤中有7例属于世界卫生组织II级或III级,而这两级脑膜瘤通常占所有脑膜瘤的比例不到20%,因此看来7p的部分缺失参与了脑膜瘤的肿瘤进展。然而,由于7p单体性通常与强烈进展相关的1p单体性相关,所以7p单体性代表的是脑膜瘤进展的一个辅助因素,而非独立特征。