Lerner Cornelia, Ketter Ralf, Linsler Stefan, Henn Wolfram, Oertel Joachim, Urbschat Steffi
Department of Otolaryngology, Saarland University, Homburg/Saar, Germany.
Department of Neurosurgery, Saarland University, Homburg/Saar D-66421, Germany.
Mol Cytogenet. 2014 Feb 5;7(1):12. doi: 10.1186/1755-8166-7-12.
Meningiomas are mostly benign tumors which arise from the meninges. They are among the cytogenetically best-studied solid tumors, mostly displaying a normal karyotype or, as a typical primary aberration, monosomy of chromosome 22. Further secondary chromosomal aberrations, especially the deletion of chromosome 1p, are correlated with increasing biological aggressiveness up to malignancy. These data are derived from the cytogenetical characterization of 661 meningiomas, from which the genetic progression score (GPS) has been developed. Due to the high expenditure of time and the expert knowledge for the cytogenetical characterization, the aim of this work was to establish an equally reliable yet more rapid clinical diagnosis based on fluorescence in situ hybridization (FISH) on meningiomas. Thus a comparison between the native tumor tissue and the primary culture of the same tumor was done in order to determine the most efficient method for a molecular cytogenetic characterization. The diagnostic procedure has to deliver fast and robust results, since they must enable the attending physician to plan the appropriate follow-up regimens for the patients. All in all, preparations of native tumor tissue as well as preparations of cell culture of 22 meningiomas were tested with FISH for aberrations concerning the prognostically relevant chromosome regions 1p and 9p, and the chromosomes 10, 14, 18 and 22 in comparison with the particular karyotypes revealed by conventional karyotyping using G-banding.
The FISH examinations between native and cultured cells showed an accordance of 93.4%. The comparison of FISH data and karyotyping presented accordance to the greatest possible extent concerning the chromosomes 14, 18 and 22, but to detect the progression associated losses of 1p and 9p FISH is the most sensitive method.
The raised data reveal that both methods can be used for a significant analysis of chromosome aberrations on meningiomas. As a result of that the complex primary culture could also be avoided. Therefore a clinical diagnosis based on FISH on meningiomas is at hand for the assignment of patients to a suitable follow-up regimen.
脑膜瘤大多是起源于脑膜的良性肿瘤。它们是细胞遗传学研究最深入的实体瘤之一,大多显示正常核型,或作为典型的原发性畸变,即22号染色体单体性。进一步的继发性染色体畸变,尤其是1p染色体缺失,与生物侵袭性增加直至恶性程度相关。这些数据来自661例脑膜瘤的细胞遗传学特征分析,据此开发了遗传进展评分(GPS)。由于细胞遗传学特征分析需要大量时间和专业知识,本研究的目的是基于脑膜瘤的荧光原位杂交(FISH)建立一种同样可靠但更快速的临床诊断方法。因此,对同一肿瘤的原发肿瘤组织和原代培养物进行了比较,以确定分子细胞遗传学特征分析的最有效方法。诊断程序必须提供快速且可靠的结果,因为这些结果必须使主治医生能够为患者制定适当的后续治疗方案。总之,对22例脑膜瘤的原发肿瘤组织和细胞培养物进行了FISH检测,以检测与预后相关的染色体区域1p和9p以及染色体10、14、18和22的畸变,并与使用G显带的传统核型分析所揭示的特定核型进行比较。
原发细胞和培养细胞之间的FISH检测一致性为93.4%。FISH数据与核型分析的比较在染色体14、18和22方面显示出最大程度的一致性,但检测1p和9p的进展相关缺失,FISH是最敏感的方法。
上述数据表明,两种方法均可用于脑膜瘤染色体畸变的重要分析。因此,也可以避免复杂的原代培养。因此,基于脑膜瘤FISH的临床诊断可用于为患者分配合适的后续治疗方案。