肺淋巴管平滑肌瘤及其共病的诊疗现状

Current status of diagnosis and treatment of pulmonary lymphangioleiomyomatosis and its comorbidities

摘要:

肺淋巴管平滑肌瘤病（PLAM）是一种低度恶性肿瘤性疾病，与胚系或体细胞TSC基因突变相关。PLAM常见共病包括血管平滑肌脂肪瘤、子宫肌瘤、乳腺癌等，部分共病发生与TSC基因突变和/或雌激素依赖相关，可影响疾病进展及预后。该文整理了PLAM相关共病，分析其可能的发生机制及诊疗进展，以期进一步加强对PLAM及其共病的识别与治疗，改善患者的生活质量，延长生存期。

Abstract:

Pulmonary lymphangioleiomyomatosis (PLAM) is a low-grade malignant neoplastic disease in connection with germline or somatic mutations of the TSC gene. Common comorbidities of PLAM include angiomyolipoma, uterine fibroids and breast cancer. The occurrence of some comorbidities is associated with mutations of the TSC gene and/or dependent on estrogen, which may affect disease progression and prognosis. In this review, we summarized the comorbidities associated with PLAM, analyzed their possible pathogenesis, and presented updates on the diagnosis and treatment of these comorbidities, in order to further enhance the identification and treatment of PLAM and its comorbidities, thereby improving the quality of life and prolonging the survival of PLAM patients.