Wang Qiushi, Lu Chunlin, Jiang Minrui, Li Mengxia, Yang Xiao, Zhang Lei, He Yong, Mao Chengyi, Fu Ping, Yang Ying, Xiao Hualiang
Department of Pathology, Daping Hospital, Army Medical University, Chongqing, China.
Department of Radiology, Daping Hospital, Army Medical University, Chongqing, China.
Front Med (Lausanne). 2021 Sep 8;8:655574. doi: 10.3389/fmed.2021.655574. eCollection 2021.
Pulmonary Sclerosing Pneumocytoma (PSP) is considered as a benign tumor, although a few cases have been reported to have multiple lesions, recurrence, and even regional lymph nodes (LNs) metastasis. Here, we report a case of PSP with atypical histologic features and malignant biological behavior, and explore its molecular genetic changes. The 23-year-old male showed a 6.5-cm pulmonary nodule in the right middle lobe (RML) and enlarged media stinal LNs. He underwent thoracoscopic RML lobectomy, systematic LNs dissection, and mediastinal lymphadenectomy. The metastases to the cervical LNs and liver were detected in a short period and then resected. Postoperative pathological examination confirmed the diagnosis of PSP in all the lesions, based on the histological characteristics and immune phenotypes. Furthermore, whole-exome sequencing identified both E17K somatic mutation and C176Y germline mutation in this case. Thus, we presented an extremely rare case of atypical PSP with rapid recurrence and multiply metastases, which can easily be misdiagnosed as primary lung cancer. In addition, PSP-specific E17K somatic E17K somatic mutation accompanied with C176Y germline mutation may contribute to the malignant clinical course of this tumor.
肺硬化性肺泡细胞瘤（PSP）被认为是一种良性肿瘤，尽管有少数病例报告显示存在多个病灶、复发，甚至出现区域淋巴结转移。在此，我们报告一例具有非典型组织学特征和恶性生物学行为的PSP病例，并探讨其分子遗传学改变。该23岁男性患者右中叶有一个6.5厘米的肺结节，纵隔淋巴结肿大。他接受了胸腔镜下右中叶肺叶切除术、系统性淋巴结清扫术和纵隔淋巴结切除术。短期内发现有颈部淋巴结和肝脏转移，随后进行了切除。术后病理检查根据组织学特征和免疫表型确诊所有病灶均为PSP。此外，全外显子测序在该病例中发现了E17K体细胞突变和C176Y种系突变。因此，我们呈现了一例极为罕见的非典型PSP病例，其复发迅速且多处转移，很容易被误诊为原发性肺癌。此外，PSP特异性的E17K体细胞突变伴有C176Y种系突变可能导致了该肿瘤的恶性临床病程。
