【佳學(xué)基因檢測】神經(jīng)鞘瘤患者獨(dú)特的低表皮神經(jīng)纖維密度為診斷和鑒別診斷提供了主要參數(shù)

2022年靶向藥價(jià)格一覽表—目的

課題調(diào)研腫瘤個性化藥物研究路徑《腫瘤基因突變度與預(yù)防策略的實(shí)施計(jì)劃》《Brain Pathol》在.?2020 Mar;30(2):386-391.發(fā)表了一篇題目為《神經(jīng)鞘瘤患者獨(dú)特的低表皮神經(jīng)纖維密度為診斷和鑒別診斷提供了主要參數(shù)》腫瘤靶向藥物治療基因檢測臨床研究文章。該研究由Said C Farschtschi?,?Lan Kluwe??,?Gerhard Sch?n?,?Reinhard E Friedrich?,?Jakob Matschke?,?Markus Glatzel?,?Joachim Weis?,?Christian Hagel?,?Victor-Felix Mautner?等完成。促進(jìn)了腫瘤的正確治療與個性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測與分析的重要性。

選擇腫瘤靶向藥的基因檢測臨床研究內(nèi)容關(guān)鍵詞：

IEND,2型神經(jīng)纖維瘤病,神經(jīng)鞘瘤病,皮膚活檢,小纖維神經(jīng)病變

腫瘤靶向治療基因檢測臨床應(yīng)用結(jié)果

神經(jīng)鞘瘤病和 2 型神經(jīng)纖維瘤病 (NF2) 是兩種不同的神經(jīng)遺傳性腫瘤易感性疾病，然而，它們具有一些臨床和遺傳特征。雖然 NF2 基因的種系突變僅在 NF2 中發(fā)現(xiàn)，但大多數(shù)神經(jīng)鞘瘤病患者在 SMARCB1 或 LZTR1 基因中有種系突變。重疊的臨床表型對這兩種疾病的鑒別診斷和風(fēng)險(xiǎn)分層提出了嚴(yán)峻挑戰(zhàn)，這兩種疾病的頻繁嵌合使這進(jìn)一步復(fù)雜化。慢性神經(jīng)性疼痛是小纖維神經(jīng)病變的典型后果，是神經(jīng)鞘瘤病的特征。相比之下，NF2 患者沒有慢性疼痛，但可能有中度至重度的感覺障礙和麻痹，這不是神經(jīng)鞘瘤病的特征。在本研究中，我們在 34 名臨床確診的神經(jīng)鞘瘤病和 25 名 NF2 患者的皮膚活檢中測定了表皮內(nèi)神經(jīng)纖維密度 (IEND)。在 NF2 組中，11/25 (44%) 的 IEND 低于年齡和性別匹配的底部 5% 規(guī)范參考 IEND。相比之下，幾乎所有 (33/34 = 97%) 神經(jīng)鞘瘤病患者的 IEND 均低于或低于 5% 標(biāo)準(zhǔn)參考值。神經(jīng)鞘瘤病患者 IEND 的降低與年齡無關(guān)。配對 t 檢驗(yàn)顯示 NF2-IEND 和相應(yīng)的底部 5% 規(guī)范參考之間沒有差異 (P = 0.98)。相比之下，神經(jīng)鞘瘤病患者的 IEND 顯著低于相應(yīng)的 5% 標(biāo)準(zhǔn)參考 IEND（P < 0.0001）。此外，我們患者的 IEND 與 5% 賊低標(biāo)準(zhǔn)參考 IEND 之間的差異在神經(jīng)鞘瘤病患者中顯著大于 NF2 患者（P < 0.0001）。我們患者的 IEND 與 NF2 和 LZTR1 基因中的種系突變的存在和類型均不相關(guān)?？傊?，神經(jīng)鞘瘤患者的IEND顯著降低，為診斷和鑒別診斷提供了一個主要參數(shù)。 2型神經(jīng)纖維瘤病；神經(jīng)鞘瘤??；皮膚活檢；小纖維神經(jīng)病變。

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

Schwannomatosis and neurofibromatosis type 2 (NF2) are two distinct neuro-genetic tumor predisposition disorders, which, however, share some clinical and genetic features. While germline mutations in the NF2 gene are only found in NF2, a majority of schwannomatosis patients have germline mutations in the SMARCB1 or LZTR1 genes. The overlapping clinical phenotypes pose a serious challenge in differential diagnosis and in risk stratification of these two entities which is further complicated by frequent mosaicism in both disorders. Chronic neuropathic pain which is a typical consequence of small fiber neuropathy, is characteristic for schwannomatosis. By contrast, NF2 patients do not have chronic pain but may have moderate to severe sensory deficits and paresis which are not characteristic for schwannomatosis. In the present study, we determined intraepidermal nerve fiber density (IEND) in skin biopsies of 34 clinically ascertained schwannomatosis and 25 NF2 patients. In the NF2 group, 11/25 (44%) presented with IEND below the age- and gender-matched bottom 5% normative reference IEND. In contrast, nearly all (33/34 = 97%) schwannomatosis patients showed IEND below or on the bottom 5% normative reference. The reduction of IEND in schwannomatosis patients was age-independent. Paired t-test revealed no difference between the NF2-IEND and the corresponding bottom 5% normative reference (P = 0.98). By contrast, IEND in the schwannomatosis patients were highly significantly lower than the corresponding 5% normative reference IEND (P < 0.0001). In addition, the difference between the IEND of our patients and the 5% lowest normative reference IEND was highly significantly larger in schwannomatosis patients than in NF2 patients (P < 0.0001). IEND of our patients did not correlate with neither the presence nor types of germline mutations in neither the NF2 nor the LZTR1 gene. In conclusion, schwannomatosis patients have marked low IEND which provides a major parameter for diagnosis and differential diagnosis.Keywords:?IEND; neurofibromatosis type 2; schwannomatosis; skin biopsy; small fiber neuropathy.