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骨髓增殖性肿瘤患者的基因突变检测：已进入临床时代？ 被引量：4

Mutational profiling in patients with myeloproliferative neoplasms： ready for every-day use in the clinic？
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摘要 随着第二代测序技术在临床的应用,骨髓增殖性肿瘤（MPN）患者的基因突变谱系得以被揭示,JAK2、MPL和CALR基因突变已被列入新近修订的诊断标准,基因突变的预后意义也日渐明确,因此,应将基因突变检测纳入MPN患者的诊疗常规. The novel second or next-generation sequencing （NGS） technique enables comprehensive mutational profiling analysis in patients with myeloproliferative neoplasms （MPN）.JAK2,MPL and CALR gene mutations are successfully introduced into diagnostic practice,mutations in genes may impact outcomes such as survival and risk of leukemic transformation,therefore,molecular mutation analysis is ready for use in all patients with suspected MPN.
作者 肖志坚
机构地区 中国医学科学院北京协和医学院 血液学研究所 血液病医院 实验血液学国家重点实验室
出处 《白血病．淋巴瘤》 CAS 2015年第7期388-391,共4页 Journal of Leukemia & Lymphoma
基金 国家自然科学基金（81270585） 天津市自然科学基金重点项目（12JCZDJC23900） 卫生公益性行业科研专项经费项目（201202017）
关键词 骨髓增殖性肿瘤 基因突变 诊断 预后 Myeloproliferative neoplasms Gene mutation Diagnosis Prognosis
分类号 R733.3 [医药卫生—肿瘤]
作者简介 通信作者：肖志坚，Email：zjxiao@hotmail．com
  • 相关文献

参考文献17

  • 1肖志坚.骨髓增殖性肿瘤和骨髓增生异常综合征/骨髓增殖性肿瘤：开启分子诊断新时代[J].中华血液学杂志,2014,35(5):385-386. 被引量：24
  • 2Cazzola M, Kralovics R. From Janus kinase 2 to calreticulin : the clinically relevant genomic landscape of myeloproliferative neoplasms [ J ]. Blood, 2014, 123 ( 24 ) : 3714-3719.
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二级参考文献26

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共引文献26

同被引文献27

  • 1Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes[J]. Blood, 2009, 114 (5): 937-951.
  • 2Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms[ J ]. N Engl J Med, 2013, 369 (25): 2379-2390.
  • 3Tefferi A, Lasho TL, Fiuke CM, et al. CALR vs JAK2 vs MPL- mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons [J]. Leukemia, 2014, 28 (7): 1472- 1477.
  • 4Xu Z, Gale RP, Zhang Y, et al. Unique features of primary myelofibrosis in Chinese [J]. Blood, 2012, 119 (11): 2469- 2473.
  • 5Li B, Xu J, Wang J, et al. Calreticulin mutations in Chinese with primary myelofibrosis [ J]. Haematologica, 2014, 99 ( 11 ): 1697- 1700.
  • 6Kralvovics R, Passamonti F, Buser AS, et al. A gain-of- function mutation of JAK2 in myeloproliferative disorders [J].N Engl J Med, 2005, 352 (17):1779- 1790,.
  • 7Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients [J]. Blood, 2006, 108 (10): 3472- 3476.
  • 8Tefferi A, Thiele J, Vannucchi AM, et al. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms [J]. Leukemia, 2014, 28(7):1407-1413.
  • 9Rumi E, Pietra D, Pascutto C, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis [J]. Blood, 2014, 124(7): 1062-1069.
  • 10Park SH, Kim SY, Lee SM, et al. Incidence, clinical features, and prognostic impact of CALR exon 9 mutations in essential thrombocythemia and primary myelofibrosis: an experience of a single tertiary hospital in Korea[J]. Ann Lab Med, 2015, 35(2): 233-237.

引证文献4

二级引证文献11

白血病．淋巴瘤
2015年 第7期

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