Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

Trubicka Joanna; Szperl Malgorzata; Grajkowska Wieslawa; Karkucinska-Wieckowska Agnieszka; Tarasinska Magdalena; Falana Katarzyna; Dembowska-Baginska Bozenna; Lastowska Maria

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Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

机译：WNT型髓母细胞瘤的新型遗传ALK变异M1199L的鉴定

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Rearrangements involving the ALK gene were identified in a variety of cancers, including paediatric tumour neuroblastoma where presence of ALK expression is also associated with adverse prognosis. Microarrays data indicate that ALK is expressed in another paediatric tumour - medulloblastoma. Therefore, we investigated if the ALK gene is mutated in medulloblastoma and performed simultaneously the molecular profiling of tumours.

机译：在多种癌症中，包括小儿肿瘤神经母细胞瘤中都鉴定出涉及ALK基因的重排，其中ALK表达的存在也与不良预后相关。微阵列数据表明ALK在另一种小儿肿瘤-髓母细胞瘤中表达。因此，我们研究了ALK基因是否在髓母细胞瘤中突变并同时进行了肿瘤的分子谱分析。

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《Folia neuropathologica》 |2016年第1期|共8页
作者
Trubicka Joanna; Szperl Malgorzata; Grajkowska Wieslawa; Karkucinska-Wieckowska Agnieszka; Tarasinska Magdalena; Falana Katarzyna; Dembowska-Baginska Bozenna; Lastowska Maria;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
medulloblastoma; ALK gene; WNT type;

机译：髓母细胞瘤;ALK基因;WNT型;

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1. Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma [J] . Trubicka Joanna, Szperl Malgorzata, Grajkowska Wieslawa, Folia neuropathologica . 2016,第1期

机译：WNT型髓母细胞瘤的新型遗传ALK变异M1199L的鉴定
2. Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors [J] . Lastowska Maria, Trubicka Joanna, Karkucinska-Wieckowska Agnieszka, Brain tumor pathology . 2019,第1期

机译：ALK蛋白的免疫组织化学检测鉴定了APC突变的Medulloblastoma，将Wnt活化的Medulloblastoma与其他类型的后浮现儿童肿瘤区分开来
3. ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients [J] . Lastowska Maria, Trubicka Joanna, Niemira Magdalena, American Journal of Surgical Pathology . 2017,第6期

机译：ALK表达是WNT激活类型的儿科髓细胞母细胞瘤的新标志物和患者预后的良好预后的指标
4. Predicting Novel and Inherited Variants in Parent-Child Trios [C] . Melissa Spence, Mario Banuelos, Roummel F. Marcia, IEEE International Symposium on Medical Measurements and Applications . 2019

机译：在亲子三重奏中预测小说和继承的变体
5. Evaluation of Clinical Practices and Needs about Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes [D] . Muller, Reka D. 2019

机译：对遗传性心律失常和遗传性心肌病基因的不确定意义变异的评估和对临床实践的评价
6. MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA [O] . Joanna Trubicka, Malgorzata Szperl, Wieslawa Grajkowska, 2016

机译：鉴定为WNT型髓母细胞的MB-04A新型胚芽突变基因（M1199L）
7. Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma [O] . Joanna Trubicka, Małgorzata Szperl, Wiesława Grajkowska, 2016

机译：在WNT类型的成神经管细胞瘤中鉴定新的遗传性aLK变体m1199L

Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

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