Hegedűs Fanni, Sükösd Farkas, Tiszlavicz László, Furák József, Pálföldi Regina, Fejes Zsuzsanna, Zombori Tamás
1 Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Pathologiai Intézet Szeged, Állomás utca 2., 6725 Magyarország.
2 Szegedi Tudományegyetem, Szent-Györgyi Albert Orvostudományi Kar, Sebészeti Klinika Szeged Magyarország.
Orv Hetil. 2023 Apr 9;164(14):548-554. doi: 10.1556/650.2023.32738.
The treatment of mixed large cell neuroendocrine carcinoma is less studied due to its low incidence. However, the presence of anaplastic lymphoma kinase (ALK) fusion gene is rare in such tumours, ALK inhibitors may represent a promising therapeutic option instead of cytostatic therapy. Routine chest X-ray and then computed tomography (CT) examination revealed a pulmonary tumour in a 52-year-old asymptomatic woman. The neoplasm was removed by lobectomy. Histological examination confirmed papillary predominant lung adenocarcinoma. The patient was treated with postoperative chemotherapy and irradiation. 3 years later, neurologic symptoms were observed, therefore, brain CT was performed. The evaluation confirmed brain metastases which were removed. Histological examination identified metastasis of large cell neuroendocrine carcinoma. Revision and molecular examination of the metastasis and lung specimen revealed pulmonary mixed large cell neuroendocrine carcinoma with ALK-rearrangement. Alectinib (Alecensa) treatment was initiated resulting in regression of the previously observed liver metastases. Progression has not occurred in the last 3 years since the start of treatment. Detection of ALK fusion genes and research of ALK inhibitor therapy focus primarily on lung adenocarcinomas. Our case report would like to draw attention to the evaluation of driver mutations in pulmonary mixed neuroendocrine carcinoma with adenocarcinoma component because targeted treatment may be an effective alternative. Orv Hetil. 2023; 164(14): 548-554.
由于混合性大细胞神经内分泌癌发病率低,对其治疗的研究较少。然而,间变性淋巴瘤激酶(ALK)融合基因在这类肿瘤中罕见,ALK抑制剂可能是一种有前景的治疗选择,而非细胞抑制疗法。常规胸部X线检查,随后进行计算机断层扫描(CT)检查,发现一名52岁无症状女性患有肺部肿瘤。通过肺叶切除术切除了肿瘤。组织学检查证实为以乳头状为主的肺腺癌。患者接受了术后化疗和放疗。3年后,观察到神经症状,因此进行了脑部CT检查。评估证实存在脑转移并进行了切除。组织学检查确定为大细胞神经内分泌癌转移。对转移灶和肺标本进行复查及分子检查,发现为伴有ALK重排的肺部混合性大细胞神经内分泌癌。开始使用阿来替尼(安圣莎)治疗,此前观察到的肝转移灶出现消退。自治疗开始后的3年里未出现病情进展。ALK融合基因的检测及ALK抑制剂治疗的研究主要集中在肺腺癌。我们的病例报告旨在提请关注对伴有腺癌成分的肺部混合性神经内分泌癌驱动突变的评估,因为靶向治疗可能是一种有效的替代方法。《匈牙利医学周报》。2023年;164(14):548 - 554。