克拉斯
腺癌
恶性肿瘤
错义突变
癌
癌症研究
小细胞肺癌
医学
肺
肺癌
转移
大细胞
突变
病理
神经节神经母细胞瘤
肿瘤科
小细胞癌
内科学
生物
癌症
结直肠癌
神经母细胞瘤
基因
遗传学
神经节细胞瘤
细胞培养
作者
Paolo Graziano,Paola Parente,Flavia Centra,Massimo Milione,Giovanni Centonze,Marco Volante,Alberto Cavazza,D Urbano,Giuseppe Maggio,Teresa Balsamo,Concetta Di Micco,Giulio Rossi,Antônio Rossi,Lucia Anna Muscarella
出处
期刊:Virchows Archiv
[Springer Nature]
日期:2023-09-29
卷期号:484 (1): 37-46
被引量:1
标识
DOI:10.1007/s00428-023-03663-x
摘要
The combination of neuroendocrine/non neuroendocrine lung tumors (CNNELT) mentioned in the last edition of the World Health Organization (WHO) of Thoracic Tumors refers to small cell carcinoma (SCLC) or large cell neuroendocrine carcinoma (LCNEC) mixed with any other non-small cell lung carcinoma (NSCLC). Typical Carcinoid (TC)/Atypical Carcinoid (AC) combined with NSCLC is not included among this category. However, case reports of TC/AC combined with NSCLC have been described. We previously reported 2 cases of lung adenocarcinoma (LUA) mixed with carcinoid sharing mutations in both components supporting the hypothesis of a clonal origin. We extended our analysis to other four cases of mixed NSCLC-carcinoid by performing targeted-DNA and RNA-based NGS analysis in both primary and their paired lymph nodes metastasis. In all cases, LUA and AC components shared at least 1 common mutation (KRAS driver mutation p.Gly12Val in cases 1 and 3, AKAP13-RET fusion in case 2, and missense KRAS driver mutation p.Gly12Ala in case 4, reinforcing the hypothesis of a clonal origin. Moreover, the same mutation was detected in the metastasis constituted only by AC (cases 2 and 4). Although it is a rare malignancy in the lung, mixed LUA and TC/AC could be included among the histotypes for which a deep molecular characterization of both components is needed to identify the presence of potential druggable genetic alterations.
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