以自发性气胸为首发表现的肺肉瘤样癌一例并文献复习

doi:10.3877/cma.j.issn.1674-6902.2025.03.022

目的

分析1 例肺肉瘤样癌（pulmonary sarcomatoid carcinoma，PSC）并发自发性气胸（spontaneous pneumothorax，SP）患者，提高临床认识，降低漏诊及误诊率。

方法

选择2022 年8 月26 日我院收治的1 例以自发性气胸为首发表现的肺肉瘤样癌患者，收集患者的临床资料，分析临床表现、组织病理学特征、诊断要点及治疗策略，进行文献复习。

结果

患者，男，74 岁，以自发性气胸为首发表现，术前胸部CT 示右侧气胸，右肺压缩约30%；右肺上叶软组织结节影，大小约2.0 cm×1.8 cm，灶周见一厚壁空洞影。行单孔胸腔镜下右肺上叶切除术并系统淋巴结清扫术。术后组织病理学检查显示：肺肉瘤样癌，TNM 分期pT1bN0M0 ⅠA2 期。宏基因二代测序（second-generation sequencing）结果显示：微卫星稳定（microsatellite stability，MSS）、低肿瘤突变负荷（tumor mutation burden low，TMB-L）。靶向用药相关突变结果显示：TP53 剪切区变异、NF1 无义突变、NF1 错义突变、ATR 错义突变、ALK 错义突变、SDHA 错义突变、KMT2C 错义突变。随访2 个月，患者病情进展后死亡。

结论

PSC 疾病进展快，预后差，以SP为首发表现的PSC 罕见，并发SP 可能为PSC 预后差的危险因素。

关键词: 肺肉瘤样癌, 自发性气胸, 二代测序, 全基因检测

Objective

To analyze a case of pulmonary sarcomatoid carcinoma （PSC） presented as spontaneous pneumothorax （SP） in our hospital and review the literature，and enhance clinical awareness to reduce the rates of missed diagnosis and misdiagnosis.

Methods

A retrospective analysis was conducted on the clinical data of a patient with PSC who presented with SP as the initial manifestation at our hospital on August 26，2022，and it was explored that the clinical manifestations，pathological characteristics，diagnostic points and treatment strategies of PSC，and relevant literature was analyzed.

Results

A 74-year-old male presented with SP. Preoperative chest CT showed right pneumothorax and right lung compression of about 30%；Soft tissue nodular shadow in the upper lobe of the right lung，about 2.0 cm×1.8 cm in size，and another thick-walled cavity shadow was seen around the lesion. Right upper lobectomy and systematic lymph node dissection were performed with single port thoracoscopic surgery. Postoperative pathological examination：PSC. TNM stage was pT1bN0M0 IA2. The whole gene detection results based on second-generation sequencing：microsatellite stability （MSS） and tumor mutation burden low （TMB-L）. Targeted drug use related mutation results：TP53 splice region mutation，NF1 nonsense mutation，NF1 missense mutation，ATR missense mutation，ALK missense mutation，SDHA missense mutation，KMT2C missense mutation. The patient died after 2 months of follow-up with progressive disease.

Conclusion

PSC progresses rapidly and has a poor prognosis. PSC with SP as the first manifestation is extremely rare. The combination of SP may be one of the risk factors for poor prognosis of PSC.

Key words: Pulmonary sarcomatoid carcinoma, Spontaneous pneumothorax, Second-generation sequencing, Full genetic testing

图1 患者术前胸部CT 图A 为肺窗，右侧气胸，右肺上叶厚壁空洞，可见与胸腔相通；图B 为纵隔窗，右肺上叶含空洞软组织结节

图2 患者组织病理学检查结果。 HE 染色，恶性肿瘤，考虑间叶组织来源（×400）

图3 组织病理免疫组化图图A 为Brg-1（+）（×100）；图B 为Ki-67（+，80-90%）（×100）；图C 为PCK（+）（×100）；图D 为TFE3（+）（×100）；图E 为TLE-1（+）（×100）；图F 为VIM（+）（×100）

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Pulmonary sarcomatoid carcinoma with pneumothorax as the first manifestation：A case report and literature review

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Pulmonary sarcomatoid carcinoma with pneumothorax as the first manifestation：A case report and literature review