Guyard Alice, Charpy Cécile, Théou-Anton Nathalie, Cremades Anne, Grassin Frédéric, Bourgogne Anaïs, Leroy Karen, Pujals Anaïs, Copie-Bergman Christiane, Chouaid Christos, Mansuet-Lupo Audrey
Department of Pathology, HUPC, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris 75014, France.
Department of Pathology, Hôpital Henri Mondor, Assistance Publique-Hôpitaux de Paris, 94010, Créteil, France.
Transl Oncol. 2019 May;12(5):784-787. doi: 10.1016/j.tranon.2019.02.015. Epub 2019 Mar 22.
Anaplastic lymphoma kinase (ALK) rearrangement is reported in 3% to 8% of patients with lung adenocarcinoma and can be detected by fluorescent in situ hybridization (FISH) or indirectly by immunohistochemistry. In FISH assay, isolated 5' signal (loss of 3' signal) is usually considered negative. We report three young nonsmoking patients with stage IV lung adenocarcinoma. Strong ALK expression in tumor cells detected by immunohistochemistry was observed in all cases, but FISH revealed an isolated 5' signal pattern. Massive parallel "next-generation" sequencing was performed in two patients and confirmed ALK rearrangement. The three patients were treated and responded to crizotinib after 14, 10, and 31 months.
在3%至8%的肺腺癌患者中报告有间变性淋巴瘤激酶（ALK）重排，可通过荧光原位杂交（FISH）检测，或通过免疫组织化学间接检测。在FISH检测中，孤立的5'信号（3'信号缺失）通常被视为阴性。我们报告了3例IV期肺腺癌的年轻不吸烟患者。所有病例通过免疫组织化学检测均观察到肿瘤细胞中ALK强表达，但FISH显示为孤立的5'信号模式。对2例患者进行了大规模平行“下一代”测序，证实了ALK重排。这3例患者接受了治疗，分别在14个月、10个月和31个月后对克唑替尼产生反应。
