【佳學(xué)基因檢測】兒童期皮膚斑塊叢狀神經(jīng)鞘瘤對 2 型神經(jīng)纖維瘤病的早期遺傳診斷

國內(nèi)腫瘤基因檢測十大公司解釋

小組討論皮膚斑塊叢狀神經(jīng)鞘瘤的基因檢測基因解碼如何創(chuàng)新治療，并在《腫瘤個性治療的方法與措施》中共同研究《JAMA Dermatol》在. 2018 Mar 1;154(3):341-346.發(fā)表了一篇題目為《兒童期皮膚斑塊叢狀神經(jīng)鞘瘤對 2 型神經(jīng)纖維瘤病的早期遺傳診斷》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Elisabeth Castellanos , Adrià Plana , Cristina Carrato , Meritxell Carrió , Inma Rosas , Emilio Amilibia , Francesc Roca-Ribas , Cristina Hostalot , Alicia Castillo , Andrea Ros , Ariadna Quer , Juan Luis Becerra , Hector Salvador , Conxi Lázaro , Ignacio Blanco , Eduard Serra , Isabel Bielsa , for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP等完成。促進(jìn)了腫瘤的正確治療向皮膚斑塊叢狀神經(jīng)鞘瘤更變細(xì)化的臨床細(xì)分表現(xiàn)演進(jìn)，說明了部分基因檢測機(jī)構(gòu)在這一領(lǐng)域的深耕細(xì)作。

選擇腫瘤靶向藥的基因檢測臨床研究內(nèi)容關(guān)鍵詞：

神經(jīng)纖維瘤病,NF2,遺傳病,臨床基因檢測,診斷性,診斷型

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

神經(jīng)系統(tǒng)腫瘤基因檢測研究的重要性：2 型神經(jīng)纖維瘤病 (NF2) 是一種破壞性遺傳病，其特征是發(fā)展為神經(jīng)系統(tǒng)的多個腫瘤。 NF2 個體的早期診斷將有助于治療和減少疾病影響，因?yàn)樵?a href='http://alivewithwords.com/cp/fenxian/' target='_blank'>疾病的賊嚴(yán)重影響通常不會在青春期之前發(fā)生。傳統(tǒng)上很少關(guān)注 NF2 中的皮膚病學(xué)體征。然而，皮膚斑塊常見于 NF2 患者，通常出現(xiàn)在出生或兒童早期，為早期 NF2 檢測和測試提供了機(jī)會。神經(jīng)系統(tǒng)腫瘤基因檢測研究目的：確定兒童皮膚斑塊識別和表征的臨床效用，以達(dá)到早期NF2 患者的診斷并評估其分子發(fā)病機(jī)制及其在 NF2 遺傳診斷中的應(yīng)用。設(shè)計(jì)、設(shè)置和參與者：通過 NF2 患者皮膚斑塊的組織學(xué)和遺傳特征進(jìn)行的診斷測試研究?；颊邽?7 名患有 NF2 或臨床懷疑為 NF2 的個體，在西班牙 Phakomatoses 參考中心接受治療。主要結(jié)果和措施：對所有皮膚斑塊進(jìn)行組織學(xué)評估。培養(yǎng)新鮮皮膚斑塊以獲得雪旺氏細(xì)胞，并對NF2基因進(jìn)行基因分析。對于所有 7 名患者，回顧了 NF2 臨床病史。神經(jīng)系統(tǒng)腫瘤基因檢測研究結(jié)果：在所有 7 名患者（4 名男性和 3 名女性）中，分析的所有皮膚斑塊在組織學(xué)上均被表征為叢狀神經(jīng)鞘瘤。源自它們的原代雪旺細(xì)胞培養(yǎng)物的遺傳分析允許鑒定構(gòu)成和體細(xì)胞 NF2 突變。基因檢測允許對僅表現(xiàn)出皮膚斑塊的兒童進(jìn)行 NF2 的早期診斷。分析的大多數(shù) NF2 患者早期出現(xiàn)皮膚斑塊和嚴(yán)重的 NF2 表型。結(jié)論和相關(guān)性：這項(xiàng)工作強(qiáng)調(diào)了仔細(xì)皮膚病學(xué)檢查和正確識別兒童皮膚斑塊以早期診斷 NF2 的臨床實(shí)用性.腫瘤基因解碼新穎表明，源自皮膚斑塊叢狀神經(jīng)鞘瘤的雪旺氏細(xì)胞具有 NF2 基因的雙重失活，因此構(gòu)成了用于基因檢測的極好組織來源，尤其是在嵌合體的情況下。

腫瘤發(fā)生與反復(fù)轉(zhuǎn)移國際數(shù)據(jù)庫描述：

Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing.Objective: To determine the clinical utility of skin plaque identification and characterization in children for reaching an early diagnosis of patients with NF2 and to evaluate their molecular pathogenesis and their use in the genetic diagnostics of NF2.Design, setting, and participants: Diagnostic test study by the histological and genetic characterization of skin plaques from patients with NF2. Patients were 7 individuals with NF2 or clinical suspicion of NF2 treated at the Spanish Reference Center on Phakomatoses.Main outcomes and measures: Histological evaluation of all skin plaques was performed. Fresh skin plaques were cultured to obtain Schwann cells and the NF2 gene was genetically analyzed. For all 7 patients, NF2 clinical history was reviewed.Results: In all 7 patients (4 male and 3 female), all skin plaques analyzed were histologically characterized as plexiform schwannomas. Genetic analysis of primary Schwann cell cultures derived from them allowed the identification of a constitutional and a somatic NF2 mutation. Genetic testing allowed the early diagnosis of NF2 in a child only exhibiting the presence of skin plaques. Most of the patients with NF2 analyzed had an early presentation of skin plaques and a severe NF2 phenotype.Conclusions and relevance: This work emphasizes the clinical utility of a careful dermatological inspection and the correct identification of skin plaques in children for an early diagnosis of NF2. We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.