ONCO/Reveal™
Dx 肺癌及結直腸癌基因診斷檢測

什麼是 Dx 肺癌和結腸癌基因診斷檢測？

這是一項以新一代測序為基礎的測試，用於檢測來自福爾馬林固定石蠟包埋 (FFPE) 非小細胞肺癌 (NSCLC) 和結腸直腸癌 (CRC) 腫瘤組織 DNA 中的體變異。

本測試擬用於根據已核准的治療產品標籤，選擇可能受益於表 1 所列靶向療法治療的 NSCLC 或 CRC 患者。

表格1. 可用標靶藥物的基因變異

適用於
基因 
變異體
標靶藥物 
結直腸癌 (CRC)
KRAS
野生型KRAS (密碼子12和13沒有出現突變)
Erbitux® (cetuximab), or ​ Vectibix® (panitumumab)
非小細胞肺癌 (NSCLC)
EGFR
外顯子 19 缺失 外顯子 21突變 L858R
Tarceva® (erlotinib), Gilotrif® (afatinib), ​Iressa®(gefitinib), or Vizimpro® (dacomitinib)

大多數的肺癌 (~85%) 都歸類為非小細胞肺癌 (NSCLC)。[4] 近一半的 NSCLC 病例與點突變或 EGFR 等其他生物標記有關。這些生物標誌物的流行率因種族而異。亞洲 NSCLC 患者的 EGFR 基因突變比例 (30-40%) 遠高於美國和歐洲的 NSCLC 患者 (10-15%)。[1]

non-small cell lung cancer (NSCLC)

85%

35-40% of patients with CRC found activating mutations in KRAS

10-15%

The proportion of EGFR mutations

30-40%

[1] Ellison, G., Zhu, G., Moulis, A., Dearden, S., Speake, G., & McCormack, R. (2012). EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples. Journal of Clinical Pathology, 66(2), 79–89. https://doi.org/10.1136/jclinpath-2012-201194

大約有 35-40% 的 CRC 患者發現 KRAS 有活化突變。因此，KRAS 基因突變狀態可作為抗 EGFR 靶向治療反應的預測生物標記。目前已有有力證據顯示，西妥昔單抗 (cetuximab) 和帕尼妥單抗 (panitumumab) 對腫瘤帶有野生型 KRAS 基因的 CRC 患者有效。 [2]

Patients with CRC found activating mutations in KRAS

35-40%

[1] Ellison, G., Zhu, G., Moulis, A., Dearden, S., Speake, G., & McCormack, R. (2012). EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples. Journal of Clinical Pathology, 66(2), 79–89. https://doi.org/10.1136/jclinpath-2012-201194

目標

確認 NSCLC / CRC 患者是否有 KRAS 或 EGFR 基因突變

Table 2. List of Variants with Established Analytical Performance Only

基因 Variant ID Cancer Nucleotide Change
EGFR T790M NSCLC c.2369C>T
EGFR G719A NSCLC c.2156G>C
EGFR G719C NSCLC c.2154_2155delinsTT; c.2155G>T
EGFR G719D NSCLC c.2156G>A
EGFR G719S NSCLC c.2155G>A
EGFR Exon 20 Inframe Insertions NSCLC Multiple
BRAF V600E NSCLC c.1799T>A; c.1799_1800delinsAA
KRAS Exon 2 Mutation NSCLC Multiple
KRAS A59E CRC c.176C>A
KRAS A59G CRC c.176C>G
KRAS A59T CRC c.175G>A
KRAS A59S CRC c.175G>T
KRAS Q61E CRC c.181C>G
KRAS Q61H CRC c.183A>C; c.183A>T
KRAS Q61K CRC c.180_181delinsAA; c.180_181inv; c.181C>A
KRAS Q61L CRC c.182A>T; c.182_183delinsTC; c.182_183delinsTG; c.182_183inv
KRAS Q61R CRC c.182A>G; c.182_183delinsGC; c.182_183delinsGT
KRAS K117N CRC c.351A>C; c.351A>T
KRAS A146T CRC c.436G>A
KRAS A146P CRC c.436G>C
KRAS A146V CRC c.437C>T
BRAF V600E CRC C.1799T>A; c.1799_1800delinsAA
項目
Dx 肺癌及結直腸癌基因診斷檢測
Content
KRAS wild type (absence of mutations in codons 12 and 13)
EGFR Exon 19 In Frame Deletions and Exon 21 L858R Substitution Mutations
BRAF V600E mutation
Sequencing Platform
NGS
Sequencing Type
Amplicon based sequencing
Variants Type
clinically actionable SNVs, indel
Sample Type
FFPE
TAT
7 working days**

流程

STEP 01
STEP 01

售前諮詢

STEP 02
STEP 02

簽署同意書、收集福爾馬林固定石蠟包埋(FFPE) 腫瘤組織塊

STEP 03
STEP 03

將樣本送至實驗室

STEP 04
STEP 04

分析實驗數據

STEP 05
STEP 05

共 7 個工作天完成報告**

**Only applicable to the sample that fulfil the QC requirements.

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