Bouanzoul Mohammed Amine, Rosen Yale
From the Department of Pulmonology and Phthisiology, Rouiba Hospital, University of Algiers, Rouiba, Algiers, Algeria (Bouanzoul).
the Department of Pathology, SUNY Downstate Health Sciences University, Brooklyn, New York (Rosen).
Arch Pathol Lab Med. 2025 Aug 1;149(8):775-788. doi: 10.5858/arpa.2024-0206-RA.
CONTEXT.—: Lymphangioleiomyomatosis is a rare multisystem disorder belonging to the family of neoplasms exhibiting perivascular epithelioid differentiation. It primarily affects women of childbearing age. The disease is characterized by a proliferation of smooth muscle-like cells (lymphangioleiomyomatosis cells) within all lung compartments, leading to cystic parenchymal destruction and, in some cases, respiratory failure. These cells carry mutations in one or both tuberous sclerosis (TSC) genes and coexpress smooth muscle and melanocytic markers. Female hormones, particularly estrogens, influence the course of the disease. Symptoms of lymphangioleiomyomatosis vary significantly among patients, ranging from exertional dyspnea and coughing to chest pain and recurrent pneumothorax.
OBJECTIVE.—: To present the latest advancements in the understanding of disease pathogenesis and diagnosis, illustrate the pathologic and radiologic findings, provide a reference for pathologists and other health care professionals, briefly discuss recent evidence-based therapeutic approaches, and emphasize the importance of adopting a multidisciplinary approach to diagnosis and optimization of patient care.
DATA SOURCES.—: A comprehensive review of pertinent medical literature published in the last 30 years, focusing on publications written in the English language, was performed.
CONCLUSIONS.—: Despite the recent significant advancements in the understanding and management of lymphangioleiomyomatosis, there are still significant gaps in our knowledge of its pathophysiology and the role of the immune system in the genesis and progression of the disease. The current changes in diagnostic algorithms favor the adoption of minimally invasive procedures as the standard of care. As a result, the clinical laboratory will play a larger role in the diagnosis of lymphangioleiomyomatosis, and surgical pathologists will likely be less involved in the diagnosis of pulmonary lymphangioleiomyomatosis than they currently are.
淋巴管平滑肌瘤病是一种罕见的多系统疾病，属于具有血管周上皮样分化的肿瘤家族。它主要影响育龄妇女。该疾病的特征是所有肺腔室内平滑肌样细胞（淋巴管平滑肌瘤病细胞）增殖，导致实质性囊性破坏，在某些情况下还会导致呼吸衰竭。这些细胞携带一个或两个结节性硬化症（TSC）基因的突变，并共同表达平滑肌和黑素细胞标记物。女性激素，尤其是雌激素，会影响疾病的进程。淋巴管平滑肌瘤病患者的症状差异很大，从劳力性呼吸困难、咳嗽到胸痛和复发性气胸不等。
介绍疾病发病机制和诊断方面的最新进展，阐述病理和放射学表现，为病理学家和其他医疗保健专业人员提供参考，简要讨论近期基于证据的治疗方法，并强调采用多学科方法进行诊断和优化患者护理的重要性。
对过去30年发表的相关医学文献进行了全面综述，重点关注英文撰写的出版物。
尽管最近在淋巴管平滑肌瘤病的认识和管理方面取得了重大进展，但我们对其病理生理学以及免疫系统在疾病发生和发展中的作用的了解仍存在重大差距。当前诊断算法的变化有利于采用微创程序作为标准治疗方法。因此，临床实验室在淋巴管平滑肌瘤病的诊断中将发挥更大的作用，而手术病理学家在肺淋巴管平滑肌瘤病诊断中的参与可能会比目前减少。
