Yang Yu, Liu Han, Liu Tao-Hua, Zheng Xi-Run, Wu Bin, Zhou Dong-Jing, Zheng Guang-Juan, Chai Xiao-Shu
Department of Pathology, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Department of Image, The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.
Front Oncol. 2023 Aug 11;13:1209799. doi: 10.3389/fonc.2023.1209799. eCollection 2023.
Lung adenosquamous carcinoma (ASC) is a rare heterogeneous tumor containing two distinct components of adenocarcinoma (ADC) and squamous cell carcinoma (SQCC). The limited biopsy sampling of the primary tumor might have overlooked either the ADC component or the SQCC component, resulting in a misdiagnosis of pure histology. Genotyping for driver mutations is now routinely performed in clinical settings to identify actionable oncogenic mutations and gene arrangements. Additionally, somatic mutations can potentially serve as a marker of clonal relationships. We report a rare case of ASC lung cancer, in which metastases were identified as ADC, while the primary was initially diagnosed as SQCC based on a fibrobronchoscope brush biopsy. The primary and metastatic tumors shared rearrangement and other mutations support they were derived from a single clone origin. Our hypothesis is that the primary tumor contained a minor component of ADC that was not present in the histologic sections of lung biopsy. After sequential -tyrosine kinase inhibitor (TKI) targeted therapy, both the patient's primary lung tumor and the site of metastatic subcutaneous nodules decreased in size, with the metastatic sites demonstrating more noticeable shrinkage. However, after 11 months of targeted therapy, the patient was found to be resistant to -TKIs. Subsequently, the patient's respiratory status deteriorated rapidly, and a cycle of immunotherapy and chemotherapy did not show efficacy. To the best of our knowledge, this is a very rare case of lung ASC, disseminated metastasizing, with distinct morphology between the primary and metastases. Different therapeutic effects of -TKIs were observed in two different morphological sites, with the metastatic cutaneous lesions shrinking more significantly than the primary lung lesions, though they both harbor the same - rearrangement. This case may provide diagnostic and therapeutic insights into lung ASC.
肺腺鳞癌（ASC）是一种罕见的异质性肿瘤，包含腺癌（ADC）和鳞状细胞癌（SQCC）两种不同成分。原发性肿瘤的活检取样有限，可能会遗漏ADC成分或SQCC成分，导致纯组织学的误诊。目前在临床环境中常规进行驱动基因突变分型，以识别可操作的致癌突变和基因重排。此外，体细胞突变可能作为克隆关系的标志物。我们报告一例罕见的肺ASC癌病例，其中转移灶被鉴定为ADC，而原发性肿瘤最初根据纤维支气管镜刷检活检诊断为SQCC。原发性肿瘤和转移瘤共享重排及其他突变，支持它们来源于单一克隆起源。我们的假设是，原发性肿瘤含有ADC的次要成分，而在肺活检的组织学切片中不存在。在序贯酪氨酸激酶抑制剂（TKI）靶向治疗后，患者的原发性肺肿瘤和转移性皮下结节部位均缩小，转移部位缩小更为明显。然而，在靶向治疗11个月后，发现患者对TKI耐药。随后，患者的呼吸状况迅速恶化，免疫治疗和化疗周期均未显示疗效。据我们所知，这是一例非常罕见的肺ASC病例，发生播散性转移，原发性肿瘤和转移瘤形态不同。在两个不同形态部位观察到TKI的不同治疗效果，转移性皮肤病变比原发性肺病变缩小更显著，尽管它们都具有相同的重排。该病例可能为肺ASC的诊断和治疗提供见解。
