Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Urology, Indiana University School of Medicine, Indianapolis, IN, USA.
Methods Mol Biol. 2021;2195:49-63. doi: 10.1007/978-1-0716-0860-9_4.
Gains of genetic material or internal rearrangements of chromosome 12p, including 12p overrepresentation or isochromosome 12p [i(12p)], are observed in virtually all germ cell tumors (GCT), in all histologic subtypes, and from various body locations. The chromosomal region involved in these alterations contains the growth and survival promoting oncogene KRAS (12p12.1). Gains or rearrangements of 12p characterize GCT from in situ to chemoresistant stages. Fluorescence in situ hybridization (FISH) detection of chromosome 12p anomalies is a sensitive and specific test for the diagnosis of germ cell tumors. Here we provide a detailed protocol for FISH detection of isochromosome 12p and chromosome 12p overrepresentation. The method is helpful for diagnosis of germ cell origin, and for selection of patients who may benefit from cisplatin-based chemotherapy.
在几乎所有生殖细胞肿瘤（GCT）中，所有组织学亚型和来自不同部位的肿瘤都观察到遗传物质的获得或染色体 12p 的内部重排，包括 12p 过度表达或 12p 等臂染色体 [i(12p)]。这些改变涉及的染色体区域包含促进生长和存活的致癌基因 KRAS（12p12.1）。12p 的获得或重排特征在于从原位到耐药阶段的 GCT。荧光原位杂交（FISH）检测染色体 12p 异常是生殖细胞肿瘤诊断的一种敏感和特异的检测方法。本文提供了一种用于检测 12p 等臂染色体和 12p 过度表达的 FISH 检测的详细方案。该方法有助于诊断生殖细胞起源，并有助于选择可能受益于顺铂为基础的化疗的患者。
