次世代定序癌症藥物基因檢驗(Next-generation sequencing for gene test of cancer medication)
醫令碼
(掛號連結) | 台大診療醫令碼 ORDERCODE |
台大診療醫令中文名稱 (ORDERCHINNAME) |
[自費醫令] | 000X0253 |
次世代定序癌症藥物基因檢驗 Next-generation sequencing for gene test of cancer medication |
[健保給付] | 30102BYX |
[Lung cancer] NGS for gene test of cancer target therapy-EGFR unknow |
[健保給付] | 30302BZX |
[肺癌] 癌症標靶藥物基因檢驗-EGFR wild type [Lung cancer] NGS for gene test of cancer target therapy -EGFR Wild type |
[健保給付] | 30302BYX |
[NTRK基因融合實體腫瘤、肝內膽管癌、甲狀腺癌、甲狀腺髓質癌] 癌症標靶藥物基因檢驗 [NTRK tumor, cholangiocarcinoma, thyroid cancer] NGS for gene test of cancer target therapy |
檢驗類型
Somatic
適合檢驗族群
次世代定序癌症藥物基因檢驗之目的,是為瞭解受檢者的癌症細胞,是否有相關基因變異點,可用於指引癌症標靶藥物治療。
檢驗基因列表
Hotspot Genes |
Fusion Genes |
CNV |
|
AKT1 |
IDH2 |
ABL1 |
ALK |
ALK |
JAK1 |
ALK |
AR |
AR |
JAK2 |
AKT3 |
BRAF |
BRAF |
JAK3 |
AXL |
CCND1 |
CDK4 |
KIT |
BRAF |
CDK4 |
CTNNB1 |
KRAS |
EGFR |
CDK6 |
DDR2 |
MAP2K1 |
ERBB2 |
EGFR |
EGFR |
MAP2K2 |
ERG |
ERBB2 |
ERBB2 |
MET |
ETV1 |
FGFR1 |
ERBB3 |
MTOR |
ETV4 |
FGFR2 |
ERBB4 |
NRAS |
ETV5 |
FGFR3 |
ESR1 |
PDGFRA |
FGFR1 |
FGFR4 |
FGFR2 |
PIK3CA |
FGFR2 |
KIT |
FGFR3 |
RAF1 |
FGFR3 |
KRAS |
GNA11 |
RET |
MET |
MET |
GNAQ |
ROS1 |
NTRK1 |
MYC |
HRAS |
SMO |
NTRK2 |
MYCN |
IDH1 |
NTRK3 |
PDGFRA |
|
PDGFRA |
PIK3CA |
||
PPARG |
|||
RAF1 |
|||
RET |
|||
ROS1 |
本檢驗可以提供之基因與相對應癌症、標靶藥物列表
Mutated gene | Common genetic alterations | Tumors implicated | Drugs |
AKT1 | Mutation | Breast | Capivasertib |
ALK | Mutation, fusion | Non–small cell lung cancer | Alectinib, brigatinib, ceritinib, crizotinib, lorlatinib |
BRAF | Mutation, fusion | Melanoma, Cholangiocarcinoma, colorectal, hairy cell leukemia,thyroid, pediatric brain tumor | Dabrafenib, encorafenib, vemurafenib, binimetinib,cobimetinib, trametinib |
EGFR | Mutation, fusion, amplification | Non–small cell lung cancer | Afatinib, dacomitinib, erlotinib, gefitinib, osimertinib |
EGFR exon 20 | Non–small cell lung cancer | Amivantamab | |
ERBB2/3/4 | Amplification, mutation | Breast, Non–small cell lung cancer | AfatinibA, lapatinib, neratinib, tucatinib, trastuzumabB,pertuzumabB, margetuximab |
FGFR2/3 | Mutation, fusion | Cholangiocarcinoma | Erdafitinib, lenvatinibA, pemigatinib, infigratinib |
IDH1/2 | Mutation | Myeloid leukemia, cholangiocarcinoma, glioblastoma | Ivosidenib, enasidenib |
KIT | Mutation, fusion | Gastrointestinal stromal tumor, mastocytosis, melanoma | Avapritinib, imatinib, pazopanibA, pexidartinibA, ripretinib, sorafenib, nilotinibA, sunitinib |
KRAS | Mutation | Non–small cell lung cancer | Sotorasib (only for KRAS G12C) |
MET | Mutation, fusion, amplification | Non–small cell lung cancer | CabozantinibA, capmatinib, crizotinibA, tepotinib |
NTRK1/2/3 | Fusion | Pediatric thyroid cancer, brain tumor, secretary-type carcinoma, many solid tumors at low frequency | Larotrectinib, entrectinib |
PDGFRA | Mutation, fusion | Gastrointestinal stromal tumor, mastocytosis, hypereosinophilic syndrome | Avapritinib, imatinibA, sorafenibA, sunitinibA, lenvatinibA, pazopanibA, ripretinibA |
PIK3CA | Mutation | Breast | Alpelisib |
PTEN | Mutation, deletion, copy loss | Breast | Capivasertib |
RET | Mutation, fusion | Cholangiocarcinoma, renal, thyroid, non–small cell lung cancer | Pralsetinib, selpercatinib, cabozantinibA |
ROS1 | Fusion | Non–small cell lung cancer | Entrectinib, crizotinib |
SMO/PTCH1 | Mutation | Medulloblastoma, basal cell carcinoma | Vismodegib |
檢驗方法
由臨床醫師,例如腫瘤科醫師或是您的癌症主治醫師,開立檢驗單,即可進行後續檢驗。
實驗室將抽取腫瘤組織核酸,使用次世代定序的方法針對癌症藥物相關的基因進行分析。
檢體需求
1. 醫令000X0253需要同時開立以下病理部醫令,送件至病理部分子病理實驗室:
開立11 份 000W0327醫令(切臘塊組織空白片,10μm)
以及 1 份 000W0329醫令(H&E染色)
並註註明 " 做000X0253,送基因分子診斷實驗室#271910 "
2. 傳送檢驗單至基因醫學部,基因分子診斷實驗室
3. 檢體過少時會通知補件
報告時程
次世代定序檢驗約需2個禮拜。
檢驗侷限性
次世代定序基因檢驗技術,無法保證偵測所有之基因異常(如:基因變異比例佔所有腫瘤細胞極低的比例、染色體缺失大於偵測解析度)。
定序分析之後,如果沒找到變異點,可能是因為其他基因(cancer susceptibility gene)、或是非遺傳因素所造成的疾病。
依衛生署規定,目前所有分子遺傳診斷皆屬研究性質,本檢驗結果僅供醫療專業人員作為臨床參考之用,並需配合其他相關臨床資料進行最佳綜合判斷。
其他資訊
本檢驗通過TAF ISO15189認證,也是衛服部核准之LDT檢驗,適用健保局之部分檢驗給付(<100基因,20000點)與標靶藥物申請。
更多資訊
衛生福利部中央健康保險署(非臺大醫院網域)
更新日期: 2024-05-10