Integrating mutation variant allele frequency into clinical practice in myeloid malignancies

David A. Sallman; Eric Padron

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Integrating mutation variant allele frequency into clinical practice in myeloid malignancies

机译：将突变变体等位基因频率纳入骨髓恶性肿瘤的临床实践

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Hematologic myeloid neoplasms represent a heterogeneous group of disorders with defined clinical and pathologic characteristics. However, intensive investigation into the genetic abnormalities of these diseases has not only significantly advanced our understanding, but also revolutionized our diagnostic and prognostic capabilities. Moreover, more recent discovery on the impact of clonal burden has highlighted the critical and dynamic role of clonal evolution over time, which is integrally linked to a patient's clinical trajectory. This review will highlight the evidence supporting the incorporation of allelic burden of somatic mutations into clinical practice for the diagnosis and prognosis of myeloid neoplasms.

机译：血液髓样肿瘤代表具有定义的临床和病理特征的一组异质性疾病。但是，对这些疾病的遗传异常进行深入研究不仅大大提高了我们的认识，而且彻底改变了我们的诊断和预后能力。此外，有关克隆负担影响的最新发现凸显了克隆进化随着时间的推移所发挥的关键和动态作用，这与患者的临床轨迹紧密相连。这篇综述将重点介绍支持将体细胞突变的等位基因负担纳入临床实践以诊断和预后骨髓瘤的证据。

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《Hematology/Oncology and Stem Cell Therapy》 |2016年第3期|共7页
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David A. Sallman; Eric Padron;
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1. How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies [J] . David Wu, Xi Luo, Simone Feurstein, Haematologica . 2020,第4期

机译：我如何策划：应用美国血液学学会 - 临床基因组资源骨髓恶性变异策策专家组织规则<斜视> runx1 变异策委，为骨髓性恶性肿瘤进行种系易感性
2. The clinical impact of mutant DNMT3A DNMT3A R882 variant allele frequency in acute myeloid leukaemia [J] . Linch David C., Hills Robert K., Burnett Alan K., British Journal of Haematology . 2020,第3期

机译：突变体DNMT3A DNMT3A R882变异等位基因频率在急性髓性白血病中的临床影响
3. Variant allele frequencies do not correlate well with myeloblast counts in a clinically validated gene sequencing panel for routine acute myeloid leukemia workup [J] . Toth Laura N., Green Donald, Peterson Jason, Leukemia and lymphoma . 2019,第9a10期

机译：变异等位基因频率与临床验证的基因测序板中的髓细胞计数不良好，用于常规敏感髓性白血病次疗法的临床验证的基因排序板
4. Influence of XPD variant alleles on p53 mutations in lung tumors of nonsmokers and smokers [C] . Sai-Mei Hou, Annamaria Kannio, Sabrina Angelini, International Symposium of Radiation and Homeostasis . 2002

机译：XPD变异等位基因对非摩托车肺肿瘤P53突变的影响
5. Analysis of variant alleles of gene thought to affect breast cancer in a patient population from South Carolina. [D] . Occean, Amerline. 2010

机译：对南卡罗来纳州患者人群中可能影响乳腺癌的基因变异等位基因进行分析。
6. How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies [O] . David Wu, Xi Luo, Simone Feurstein, 2020

机译：我如何策划：应用美国血液病学会-临床基因组资源髓样恶性变体治疗专家小组制定的RUNX1变体治愈规则以针对骨髓恶性肿瘤的种系易感性
7. Integrating mutation variant allele frequency into clinical practice in myeloid malignancies [O] . Sallman David A., Padron Eric 2016

机译：将突变变体等位基因频率纳入骨髓恶性肿瘤的临床实践

Integrating mutation variant allele frequency into clinical practice in myeloid malignancies

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