{"id":9152,"date":"2021-03-19T16:24:50","date_gmt":"2021-03-19T07:24:50","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/?p=9152"},"modified":"2023-12-28T14:27:47","modified_gmt":"2023-12-28T05:27:47","slug":"chromothripsis_ma_gsd_ts_1","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/chromothripsis_ma_gsd_ts_1\/","title":{"rendered":"\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\uff1a\u304c\u3093\u7814\u7a76\u306e\u65b0\u305f\u306a\u30d5\u30ed\u30f3\u30c6\u30a3\u30a2"},"content":{"rendered":"

\"\"\u67d3\u8272\u4f53\u7570\u5e38\u306f\u591a\u304f\u306e\u304c\u3093\u306b\u304a\u3044\u3066\u767a\u751f\u3057\u3001\u907a\u4f1d\u7684\u6d3b\u52d5\u306b\u5927\u304d\u306a\u5909\u5316\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u7a2e\u985e\u304c\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u3092\u3069\u306e\u3088\u3046\u306b\u691c\u51fa\u3059\u308b\u304b\u304c\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53\u7570\u5e38\u306f\u5f93\u6765\u306e\u907a\u4f1d\u5b66\u7684\u624b\u6cd5\u3067\u306f\u6b63\u78ba\u306b\u7279\u5b9a\u3067\u304d\u306a\u3044\u3053\u3068\u3082\u591a\u304f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u3092\u9069\u5207\u306b\u7406\u89e3\u3059\u308b\u306b\u306f\u4f7f\u7528\u3057\u3066\u3044\u308b\u30c4\u30fc\u30eb\u306e\u7d99\u7d9a\u7684\u306a\u6539\u826f\u304c\u5fc5\u8981\u3067\u3059\u3002
\n\u67d3\u8272\u4f53\u7570\u5e38\u306e\u4e2d\u3067\u6ce8\u76ee\u3092\u96c6\u3081\u3066\u3044\u308b\u73fe\u8c61\u304c\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\u3067\u3042\u308a\u3001\u30b5\u30fc\u30e2\u30d5\u30a3\u30c3\u30b7\u30e3\u30fc\u30b5\u30a4\u30a8\u30f3\u30c6\u30a3\u30d5\u30a3\u30c3\u30af\u306e\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306f\u3053\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

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\n\u5f93\u6765\u7528\u3044\u3089\u308c\u3066\u304d\u305f\u6838\u578b\u5206\u6790\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u8907\u96d1\u306a\u73fe\u8c61\u306e\u4e00\u90e8\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u3066\u3082\u3001\u305d\u306e\u73fe\u8c61\u3092\u5b8c\u5168\u306b\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u89e3\u50cf\u5ea6\u3092\u5099\u3048\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n

\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\u306f\u3001\u67d3\u8272\u4f53\u306e\u4ed8\u52a0\u3001\u6b20\u5931\u3001\u9006\u4f4d\u3001\u4e00\u5869\u57fa\u591a\u578b\uff08SNP\uff09\u304a\u3088\u3073CNV\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u3082\u306e\u3067\u3001\u3055\u307e\u3056\u307e\u306a\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08NGS\uff09\u306f\u3001\u9ad8\u89e3\u50cf\u5ea6\u3067\u5b8c\u5168\u306a\u30b2\u30ce\u30e0\u30ea\u30fc\u30c9\u3092\u751f\u6210\u3067\u304d\u307e\u3059\u304c\u3001\u8cbb\u7528\u304c\u639b\u304b\u308b\u305f\u3081\u3001\u4e88\u7b97\u306b\u3088\u3063\u3066\u306f\u5b9f\u65bd\u304c\u56f0\u96e3\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u306f\u3001\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u3084\u67d3\u8272\u4f53\u6570\u7570\u5e38\u7b49\u3092\u8a8d\u8b58\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u304c\u3001\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\u3092\u7814\u7a76\u3059\u308b\u306b\u306f\u3001FISH\u3067\u306f\u8907\u6570\u306e\u30d7\u30ed\u30fc\u30d6\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u86cd\u5149\u9855\u5fae\u93e1\u3067\u306e\u89b3\u5bdf\u3084\u7d50\u679c\u306e\u89e3\u91c8\u306e\u8907\u96d1\u3055\u304c\u5287\u7684\u306b\u5897\u52a0\u3057\u307e\u3059\u3002\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u306b\u3088\u308b\u67d3\u8272\u4f53\u306e\u89e3\u6790\u306f\u3001NGS\u3068\u6bd4\u8f03\u3059\u308b\u3068\u30ab\u30d0\u30ec\u30c3\u30b8\u306f\u5236\u9650\u3055\u308c\u307e\u3059\u304c\u3001NGS\u306b\u3088\u308b\u5168\u30b2\u30ce\u30e0\u306e\u5e83\u7bc4\u306a\u89e3\u6790\u6027\u80fd\u3068\u305d\u306e\u9ad8\u984d\u306a\u30b3\u30b9\u30c8\u306e\u9593\u306e\u59a5\u5354\u70b9\u3092\u63d0\u4f9b\u3059\u308b\u305f\u3081\u306b\u7406\u60f3\u7684\u3067\u3059\u3002<\/p>\n

\u30b5\u30fc\u30e2\u30d5\u30a3\u30c3\u30b7\u30e3\u30fc\u304c\u63d0\u4f9b\u3059\u308b\u5168\u30b2\u30ce\u30e0\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u306f\u3001SNP\u3068CNV\u3092\u8a8d\u8b58\u3059\u308b\u30de\u30fc\u30ab\u30fc\u306b\u3088\u308b\u9ad8\u89e3\u50cf\u5ea6\u306e\u89e3\u6790\u6027\u80fd\u3092\u6709\u3057\u3001\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\u73fe\u8c61\u306e\u5168\u4f53\u50cf\u3092\u628a\u63e1\u3067\u304d\u307e\u3059\u3002AppliedBiosystems\u2122 OncoScan\u2122 CNV Assay\u304a\u3088\u3073 AppliedBiosystems\u2122 OncoScan\u2122 CNV Plus Assay\u306f\u3001\u30af\u30ed\u30e2\u30b9\u30ea\u30d7\u30b7\u30b9\u3001\u67d3\u8272\u4f53\u5207\u65ad\u70b9\u306e\u6c7a\u5b9a\u3001\u500d\u6570\u6027\u3001\u30b2\u30ce\u30e0\u306e\u30e2\u30b6\u30a4\u30af\u73fe\u8c61\u304a\u3088\u3073\u56fa\u5f62\u816b\u760d\u306b\u304a\u3051\u308b\u30b3\u30d4\u30fc\u6570\u306e\u5897\u6e1b\u3092\u52b9\u7387\u7684\u306b\u691c\u51fa\u3067\u304d\u308b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3067\u3059\u3002\u307e\u305f\u3001\u9020\u8840\u5668\u816b\u760d\u306b\u304a\u3044\u3066\u306fAppliedBiosystems\u2122 CytoScan\u2122 HD Suite\u304c\u540c\u7b49\u306e\u89e3\u6790\u6027\u80fd\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/p>\n

\u307e\u3068\u3081<\/h2>\n

OncoScan CNV Assay\u304a\u3088\u3073OncoScan CNV Plus Assay\u3001CytoScan HD Suite\u306e\u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3092\u7528\u3044\u305f\u7d30\u80de\u907a\u4f1d\u5b66\/\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u306e\u30da\u30fc\u30b8<\/a>\u3092\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n

\uff1c\u53c2\u8003\u6587\u732e\uff1e<\/strong>
\n1.Stephens, PJ., et al. (2011) \u201cMassive genomic rearrangement acquired in a single catastrophic event during cancer development,\u201d Cell, 144, pp. 27\u201340.<\/p>\n

2.Rode, A., et al. (2016) \u201cChromothripsis in cancer cells: An update,\u201d Int J Cancer, 138, pp. 2322\u20132333.<\/p>\n

3.Molenaar, J.J., et al. (2012) \u201cSequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes,\u201d Nature, 483, pp. 589\u2013593.<\/p>\n

4.Northcott, P.A., et al. (2012) \u201cThe clinical implications of medulloblastoma subgroups,\u201d Nat Rev Neurol, 8, pp. 340\u2013351.<\/p>\n

5.Rausch, T., et al. (2012) \u201cGenome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations,\u201d Cell, 148, pp. 59\u201371.<\/p>\n

6.Magrangeas, F., et al. (2011) \u201cChromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients,\u201d Blood, 118, pp. 675\u2013678.<\/p>\n

7.Forment, J.V., et al. (2012) \u201cChromothripsis and cancer: Causes and consequences of chromosome shattering,\u201d Nat Rev Cancer, 12, pp. 663\u2013670.<\/p>\n

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