【佳學基因檢測】成人I型神經(jīng)纖維瘤病患者診斷與護理 (ACMG)

腫瘤基因檢測有用嗎分析

分析腫瘤分子診斷與基因分析了解《Genet Med》在?2018 Jul;20(7):671-682發(fā)表了一篇題目為《成人I型神經(jīng)纖維瘤病患者診斷與護理 (ACMG)》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Douglas R Stewart,?Bruce R Korf,?Katherine L Nathanson?,?David A Stevenson,?Kaleb Yohay?等完成。促進了腫瘤的正確治療與個性化用藥的發(fā)展，進一步強調(diào)了基因信息檢測與分析的重要性。

腫瘤靶向藥物及正確治療臨床研究內(nèi)容關鍵詞：

I型,神經(jīng)纖維瘤,資源,共識,數(shù)據(jù)

腫瘤靶向治療基因檢測臨床應用結(jié)果

神經(jīng)纖維瘤實踐資源是為醫(yī)學遺傳學家和其他臨床醫(yī)生的教育學習資源，以幫助他們提供優(yōu)質(zhì)的醫(yī)療服務。使用此實踐資源有效是自愿的，資源編撰方并不一定能高效成功的醫(yī)療結(jié)果。該實踐資源不應被視為包括所有適當?shù)脑\斷治療方案和測試，或不包括合理地用于獲得相同結(jié)果的其他方案和檢測。在確定任何特定程序或測試的適當性時，臨床醫(yī)生應將他或她自己的專業(yè)判斷應用于個體患者或樣本所呈現(xiàn)的特定臨床情況。鼓勵臨床醫(yī)生記錄使用特定程序或測試的原因，無論它是否符合本實踐資源。還建議臨床醫(yī)生注意該實踐資源的采用日期，并考慮在該日期之后可用的其他醫(yī)學和科學信息。謹慎考慮知識產(chǎn)權(quán)是否可能會限制某些測試和其他程序的執(zhí)行。1型神經(jīng)纖維瘤基因檢測及個性化診斷治療的目的：1 型神經(jīng)纖維瘤病 (NF1) 是一種常染色體顯性遺傳疾病，由腫瘤抑制基因NF1雜合功能喪失突變引起。根據(jù)佳學基因《腫瘤大數(shù)據(jù)庫及人工智能分析》，I型神經(jīng)纖維瘤的發(fā)生率在全球范圍內(nèi)約為 1/1,900-1/3,500 人。這種疾病使得男性和女性的平均預期壽命減少 8-15 年，主要是因為惡性腫瘤和心血管的發(fā)生。1型神經(jīng)纖維瘤的基因解碼方法：基因解碼團隊先組建一個專家工作組試圖確定患病率、發(fā)病率和死亡率，以及可用的治療成人常見和新出現(xiàn)的 NF1 相關臨床疾病。工作組成員選擇經(jīng)過同行評議的包括發(fā)表在 PubMed 的研究數(shù)據(jù)。對大人群研究和多機構(gòu)參與研究獲得的數(shù)據(jù)給與更高的權(quán)重和優(yōu)先性。神經(jīng)纖維瘤基因解碼基因檢測所采納的治療和護理 建議是由從這些研究數(shù)據(jù)中及歸納專業(yè)人員所形成的共識。I型神經(jīng)纖維瘤基因解碼基因檢測分析研究結(jié)果：惡性外周神經(jīng)鞘瘤 (MPNST)、乳腺癌、皮膚神經(jīng)纖維瘤以及重要的精神和神經(jīng)系統(tǒng)病是 NF1 患者的常見臨床表現(xiàn)出現(xiàn)的地方。I型神經(jīng)纖維瘤基因解碼分析結(jié)論：患者教育和對令人擔憂的體征和癥狀（如進行性劇烈疼痛（MPNST）、腫瘤體積變化（MPNST）、新的、無法解釋的神經(jīng)系統(tǒng)癥狀（MPNST、腦腫瘤）和出汗/心悸（嗜鉻細胞瘤））的敏感性很重要。盡管 NF1 成人患者的許多問題可以由內(nèi)科醫(yī)生或家庭醫(yī)生處理，但I型神經(jīng)纖維瘤強烈建議由專門的 NF1 診所進行評估和護理協(xié)調(diào)。

腫瘤發(fā)生與反復轉(zhuǎn)移國際數(shù)據(jù)庫描述：

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.