Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation.
Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases Harboring AKT1 E17K Somatic Mutation and TP53 C176Y Germline Mutation.
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病例报告和文献综述：具有 AKT1 E17K 体细胞突变和 TP53 C176Y 种系突变的多发性肺硬化性肺细胞瘤
DOI：
10.3389/fmed.2021.655574
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发表时间：
2021
影响因子：
3.9
通讯作者：
Xiao H
中科院分区：
文献类型：
--
作者：
Wang Q;Lu C;Jiang M;Li M;Yang X;Zhang L;He Y;Mao C;Fu P;Yang Y;Xiao H
肺硬化性肺细胞瘤（Pulmonary Sclerosing Pneumocytoma，PSP）被认为是一种良性肿瘤，但也有少数病例报告有多发病灶、复发、甚至区域淋巴结（regional lymph nodes，LN）转移。本文报告一例具有不典型组织学特征和恶性生物学行为的PSP，并探讨其分子遗传学改变。这位23岁的男性患者在右中叶（RML）和扩大的中脉淋巴结中发现了一个6.5厘米的肺结节。他接受了胸腔镜下RML肺叶切除术、系统性LN剥离术和纵隔淋巴结切除术。颈部淋巴结和肝脏的转移在短期内被发现，然后切除。术后病理检查根据组织学特征和免疫表型确诊为PSP。此外，在这种情况下，全外显子组测序鉴定了AKT1E17K体细胞突变和TP53C176Y种系突变。因此，我们提出了一个非常罕见的非典型PSP的情况下，快速复发和多重转移，这很容易被误诊为原发性肺癌。此外，PSP特异性AKT1 E17K体细胞突变伴TP53 C176Y生殖系突变可能有助于该肿瘤的恶性临床过程。
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 AKT1 E17K somatic mutation and TP53 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 AKT1 E17K somatic E17K somatic mutation accompanied with TP53 C176Y germline mutation may contribute to the malignant clinical course of this tumor.
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影响因子：
5.3
作者：
Jiang, Guanming;Zhang, Min;Zhou, Jianping
通讯作者：
Zhou, Jianping
肺硬化性血管瘤伴淋巴结转移一例报告并文献复习。
影响因子：
2.9
作者：
Adachi Y;Tsuta K;Hirano R;Tanaka J;Minamino K;Shimo T;Ikehara S
通讯作者：
Ikehara S
影响因子：
51.1
作者：
Villani, Anita;Shore, Ari;Malkin, David
通讯作者：
Malkin, David
影响因子：
6.4
作者：
Gao, Qiqi;Zhou, Jie;Teng, Xiaodong
通讯作者：
Teng, Xiaodong
影响因子：
0.2
作者：
Arumugam, Vasugi Gramani;Joseph, Leena Dennis;Sunderaj, Ramya Rathinam
通讯作者：
Sunderaj, Ramya Rathinam