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NOTCH1 mutational status in chronic lymphocytic leukaemia: clinical relevance of subclonal mutations and mutation types.

作者信息

D'Agaro Tiziana, Bittolo Tamara, Bravin Vanessa, Dal Bo Michele, Pozzo Federico, Bulian Pietro, Rossi Francesca M, Zucchetto Antonella, Degan Massimo, D'Arena Giovanni, Chiarenza Annalisa, Zaja Francesco, Pozzato Gabriele, Di Raimondo Francesco, Rossi Davide, Gaidano Gianluca, Del Poeta Giovanni, Gattei Valter, Bomben Riccardo

机构信息

Clinical and Experimental Onco-Haematology Unit, Centro di Riferimento Oncologico, I.R.C.C.S., Aviano, PN, Italy.

Onco-Haematology Department, Centro di Riferimento Oncologico della Basilicata, I.R.C.C.S., Rionero in Vulture, Italy.

出版信息

Br J Haematol. 2018 Aug;182(4):597-602. doi: 10.1111/bjh.14843. Epub 2017 Jul 12.

DOI:10.1111/bjh.14843
PMID:28699643
Abstract
摘要

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NOTCH1 mutational status in chronic lymphocytic leukaemia: clinical relevance of subclonal mutations and mutation types.慢性淋巴细胞白血病中的NOTCH1突变状态：亚克隆突变和突变类型的临床相关性
Br J Haematol. 2018 Aug;182(4):597-602. doi: 10.1111/bjh.14843. Epub 2017 Jul 12.
2
High-throughput sequencing for the identification of NOTCH1 mutations in early stage chronic lymphocytic leukaemia: biological and clinical implications.高通量测序鉴定早期慢性淋巴细胞白血病 NOTCH1 突变：生物学和临床意义。
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Non-coding NOTCH1 mutations in chronic lymphocytic leukemia negatively impact prognosis.慢性淋巴细胞白血病中的非编码NOTCH1突变对预后产生负面影响。
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Chronic lymphocytic leukemia cells in lymph nodes show frequent NOTCH1 activation.淋巴结中的慢性淋巴细胞白血病细胞常表现出NOTCH1激活。
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Clinical significance of c.7544-7545 delCT NOTCH1 mutation in chronic lymphocytic leukaemia.慢性淋巴细胞白血病中c.7544-7545 delCT NOTCH1突变的临床意义
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Ultrasensitive Detection of NOTCH1 c.7544_7545delCT Mutations in Chronic Lymphocytic Leukemia by Droplet Digital PCR Reveals High Frequency of Subclonal Mutations and Predicts Clinical Outcome in Cases with Trisomy 12.通过液滴数字 PCR 超灵敏检测慢性淋巴细胞白血病中的 NOTCH1 c.7544_7545delCT 突变，揭示了亚克隆突变的高频，并预测了伴有 12 三体的病例的临床结局。
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NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome.NOTCH1 突变可识别出慢性淋巴细胞白血病患者的一个遗传亚群，这些患者具有较高的转化风险和不良预后。
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B-cell receptor configuration and mutational analysis of patients with chronic lymphocytic leukaemia and trisomy 12 reveal recurrent molecular abnormalities.慢性淋巴细胞白血病伴 12 号三体患者的 B 细胞受体结构和突变分析揭示了反复出现的分子异常。
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Case Report: Sequential Development of Three Mature Lymphoid Neoplasms in a Single Patient: Clonal Relationship and Molecular Insights.病例报告：一名患者先后发生三种成熟淋巴细胞肿瘤：克隆关系及分子学见解
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Haematologica. 2021 Dec 1;106(12):3125-3135. doi: 10.3324/haematol.2020.261891.
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