【佳学基因检测】成人I型神经纤维瘤病患者诊断与护理 (ACMG)

肿瘤基因检测有用吗分析

分析肿瘤分子诊断与基因分析了解《Genet Med》在 2018 Jul;20(7):671-682发表了一篇题目为《成人I型神经纤维瘤病患者诊断与护理 (ACMG)》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Douglas R Stewart, Bruce R Korf, Katherine L Nathanson , David A Stevenson, Kaleb Yohay 等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及正确治疗临床研究内容关键词：

I型,神经纤维瘤,资源,共识,数据

肿瘤靶向治疗基因检测临床应用结果

神经纤维瘤实践资源是为医学遗传学家和其他临床医生的教育学习资源，以帮助他们提供优质的医疗服务。使用此实践资源有效是自愿的，资源编撰方并不一定能高效成功的医疗结果。该实践资源不应被视为包括所有适当的诊断治疗方案和测试，或不包括合理地用于获得相同结果的其他方案和检测。在确定任何特定程序或测试的适当性时，临床医生应将他或她自己的专业判断应用于个体患者或样本所呈现的特定临床情况。鼓励临床医生记录使用特定程序或测试的原因，无论它是否符合本实践资源。还建议临床医生注意该实践资源的采用日期，并考虑在该日期之后可用的其他医学和科学信息。谨慎考虑知识产权是否可能会限制某些测试和其他程序的执行。1型神经纤维瘤基因检测及个性化诊断治疗的目的：1 型神经纤维瘤病 (NF1) 是一种常染色体显性遗传疾病，由肿瘤抑制基因NF1杂合功能丧失突变引起。根据佳学基因《肿瘤大数据库及人工智能分析》，I型神经纤维瘤的发生率在全球范围内约为 1/1,900-1/3,500 人。这种疾病使得男性和女性的平均预期寿命减少 8-15 年，主要是因为恶性肿瘤和心血管的发生。1型神经纤维瘤的基因解码方法：基因解码团队先组建一个专家工作组试图确定患病率、发病率和死亡率，以及可用的治疗成人常见和新出现的 NF1 相关临床疾病。工作组成员选择经过同行评议的包括发表在 PubMed 的研究数据。对大人群研究和多机构参与研究获得的数据给与更高的权重和优先性。神经纤维瘤基因解码基因检测所采纳的治疗和护理 建议是由从这些研究数据中及归纳专业人员所形成的共识。I型神经纤维瘤基因解码基因检测分析研究结果：恶性外周神经鞘瘤 (MPNST)、乳腺癌、皮肤神经纤维瘤以及重要的精神和神经系统病是 NF1 患者的常见临床表现出现的地方。I型神经纤维瘤基因解码分析结论：患者教育和对令人担忧的体征和症状（如进行性剧烈疼痛（MPNST）、肿瘤体积变化（MPNST）、新的、无法解释的神经系统症状（MPNST、脑肿瘤）和出汗/心悸（嗜铬细胞瘤））的敏感性很重要。尽管 NF1 成人患者的许多问题可以由内科医生或家庭医生处理，但I型神经纤维瘤强烈建议由专门的 NF1 诊所进行评估和护理协调。

肿瘤发生与反复转移国际数据库描述：

Disclaimer: This practice resource is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this practice resource is completely voluntary and does not necessarily assure a successful medical outcome. This practice resource should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this practice resource. Clinicians also are advised to take notice of the date this practice resource was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Purpose: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a heterozygous loss-of-function variant in the tumor suppressor gene NF1; it affects ~1/1,900-1/3,500 people worldwide. The disorder is associated with an 8-15-year reduction in average life expectancy in both men and women, primarily due to malignant neoplasms and cardiovascular causes.Methods: A work group of experts sought to determine the prevalence, morbidity and mortality, and available treatments of common and emerging NF1-related clinical problems in adults. Work-group members identified peer-reviewed publications from PubMed. Publications derived from populations and multi-institution cohorts were prioritized. Recommendations for management arose by consensus from this literature and the collective expertise of the authors.Results: Malignant peripheral nerve sheath tumor (MPNST), breast cancer, cutaneous neurofibromas, and significant psychiatric and neurologic diagnoses are common problems in patients with NF1.Conclusion: Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.