Single-Nucleotide Polymorphism Array Karyotyping in Clinical Practice: Where, When, and How?

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• 作者：Aiko Sato-Otsubo ; Masashi Sanada ; Seishi Ogawa ; ^{sogawa-tky@umin.ac.jp}
• 刊名：Seminars in Oncology
• 出版年：2012
• 出版时间：February, 2012
• 年：2012
• 卷：39
• 期：1
• 页码：13-25
• 全文大小：1729 K

文摘

Single-nucleotide polymorphism array (SNP-A) karyotyping is a new technology that has enabled genome-wide detection of genetic lesions in human cancers, including hematopoietic neoplasms. Taking advantage of very large numbers of allele-specific probes synthesized on microarrays at high density, copy number alterations as well as allelic imbalances can be sensitively detected in a genome-wide manner at unprecedented resolutions. Most importantly, SNP-A karyotyping represents the only platform currently available for genome-scale detection of copy neutral loss of heterozygosity (CN-LOH) or uniparental disomy (UPD), which is widely observed in cancer genomes. Although not applicable to detection of balanced translocations, which are commonly found in hematopoietic malignancies, SNP-A karyotyping technology complements and even outperforms conventional metaphase karyotyping, potentially allowing for more accurate genetic diagnosis of hematopoietic neoplasms in clinical practice. Here, we review the current status of SNP-A karyotyping and its application to hematopoietic neoplasms.