Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal smooth muscle-like cells, resulting in cystic lung destruction. The invading cell in LAM arises from an unknown source and harbours mutations in tuberous sclerosis complex (TSC) genes that result in constitutive activation of the mechanistic target of rapamycin (mTOR) pathway, dysregulated cellular proliferation, and a programme of frustrated lymphangiogenesis, culminating in disordered lung remodelling and respiratory failure. Over the past two decades, all facets of LAM basic and clinical science have seen important advances, including improved understanding of molecular mechanisms, novel diagnostic and prognostic biomarkers, effective treatment strategies, and comprehensive clinical practice guidelines. Further research is needed to better understand the natural history of LAM; develop more powerful diagnostic, prognostic, and predictive biomarkers; optimise the use of inhibitors of mTOR complex 1 in the treatment of LAM; and explore novel approaches to the development of remission-inducing therapies.

中文翻译：

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淋巴管平滑肌瘤病：发病机制、临床特征、诊断和治疗


淋巴管平滑肌瘤病 (LAM) 是一种缓慢进展、低级别、转移性的女性肿瘤，其特征是异常平滑肌样细胞浸润肺实质，导致囊性肺破坏。 LAM 中的入侵细胞来源不明，并含有结节性硬化症复合体 (TSC) 基因突变，导致雷帕霉素机制靶标 (mTOR) 途径的组成型激活、细胞增殖失调以及淋巴管生成受阻的程序，最终导致肺重塑紊乱和呼吸衰竭。在过去的二十年中，LAM 基础和临床科学的各个方面都取得了重要进展，包括对分子机制的理解加深、新型诊断和预后生物标志物、有效的治疗策略以及全面的临床实践指南。需要进一步研究以更好地了解 LAM 的自然历史；开发更强大的诊断、预后和预测生物标志物；优化 mTOR 复合物 1 抑制剂在 LAM 治疗中的使用；并探索开发缓解诱导疗法的新方法。