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Testing Timing
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For patients diagnosed with advanced or metastatic solid tumors (both adults and children), NRG1/2 gene fusion testing is recommended, along with detection of other actionable oncogenic driver genes. NGS testing for NRG1/2 gene fusions is strongly recommended for histopathologically confirmed invasive mucinous adenocarcinoma of the lung.
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NRG1/2 gene fusion testing should be considered for patients with locally advanced, metastatic solid tumors (adults and children) before or during standard treatment. For patients with locally advanced invasive mucinous adenocarcinoma of the lung where the incidence of NRG1/2 gene fusions is high, NRG1/2 gene fusion testing is strongly recommended prior to neoadjuvant therapy.
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中文解读：明确晚期、转移性实体瘤患者诊断时，以及局晚期患者标准治疗前或治疗期间，均需考虑开展 NRG1/2 基因融合检测；对于浸润性肺粘液腺癌这类高发人群，更是给出强烈推荐，且检测时需同步排查其他可靶向的致癌驱动基因。
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Testing Methods
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Tumor histological specimens are preferred for fusion gene testing. If sufficient tumor histological specimens are unavailable, cytological specimens can be selected. Before fusion gene testing, the tumor cell content of the tissue or cytological specimens should be evaluated by professional pathologists. If adequate tumor histological or cytological specimens cannot be obtained, liquid biopsy is recommended as a supplementary testing method.
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The main methods for NRG1/2 gene fusion testing include whole transcriptome sequencing, RNA - based NGS, and DNA - based NGS covering the intronic regions of NRG1/2. RNA - based NGS has higher sensitivity than DNA - based NGS. When necessary, multiple platforms can be used for supplementation and verification.
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pERBB3 immunohistochemistry can be used as a rapid and effective prescreening method to identify NRG1 - positive patients.
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中文解读：优先用肿瘤组织标本检测，组织不足时可用细胞学标本，还能以液体活检补充；检测首选全转录组测序等几种 NGS 技术，其中 RNA 层面的 NGS 灵敏度更高；pERBB3 免疫组化可作为 NRG1 阳性患者的快速预筛选手段。
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Testing Procedures and Quality Control
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Each hospital should establish standardized NRG1/2 testing procedures.
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All tests should be conducted in accredited laboratories such as those certified by ISO15189, CAP, or CLIA, and laboratories should perform internal and external quality control related to NRG1/2 testing in accordance with relevant regulations.
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Test reports should include basic information, quality control data, tumor cell content, microdissection status, etc. For positive fusion results in NGS reports, details such as chromosomal breakpoint location should be included.
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When doctors have doubts about test results, they are advised to consult a molecular tumor board.
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中文解读：要求医院建立标准化检测流程，检测需在权威认证实验室开展并做好质控；报告内容要详尽规范；医生对结果存疑时，可借助分子肿瘤委员会进行研判。
此外，该共识还提及，目前尚无获批的 NRG1/2 靶向药，临床常用泛 HER 抑制剂、靶向 HER2 或 HER3 的小分子抑制剂及单克隆抗体等治疗。而在共识发布后，2024 年 12 月 FDA 加速批准了泽妥珠单抗用于治疗 NRG1 融合阳性胰腺癌，这也为这类融合基因相关实体瘤的治疗提供了新的参考方向。