Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
Research Unit of Respiratory Disease, Central South University, Changsha, Hunan, 410011, China.
Orphanet J Rare Dis. 2024 Nov 29;19(1):445. doi: 10.1186/s13023-024-03455-9.
Lymphangioleiomyomatosis (LAM) is a rare, slowly progressing, low-grade metastatic tumor primarily affecting women. Currently, vascular endothelial growth factor-D (VEGF-D) is the only validated diagnostic biomarker, enabling diagnosis of LAM without the need for lung biopsy in appropriate clinical settings. However, VEGF-D concentrations are normal in about 30% of patients, rendering it insufficient for diagnosing all cases of LAM. There remains a need to identify more non-invasive, safe, sensitive, and specific biomarkers associated with LAM. Therefore, it is imperative to explore novel non-invasive, safe, and specific diagnostic methods for LAM. This article aims to review biomarkers associated with LAM, including potential biomarkers newly discovered or showing advancements in classical biomarkers widely used in LAM, and discuss their application in LAM diagnosis, assessment of disease severity, prediction of treatment response, and prognosis. （LAM） 、，。，-D （VEGF-D） ， LAM。， 30% VEGF-D ， LAM 。 LAM 、、。，、 LAM 。 LAM ， LAM ， LAM 、、。.
淋巴管平滑肌瘤病（LAM）是一种罕见的、进展缓慢的低度转移性肿瘤，主要影响女性。目前，血管内皮生长因子-D（VEGF-D）是唯一经过验证的诊断生物标志物，可在适当的临床环境中无需肺活检即可诊断 LAM。然而，约 30%的患者 VEGF-D 浓度正常，因此不足以诊断所有 LAM 病例。仍然需要确定更多与 LAM 相关的非侵入性、安全、敏感和特异性生物标志物。因此，探索用于 LAM 的新型非侵入性、安全和特异性诊断方法势在必行。本文旨在综述与 LAM 相关的生物标志物，包括新发现的或在 LAM 中广泛应用的经典生物标志物中取得进展的潜在生物标志物，并讨论其在 LAM 诊断、疾病严重程度评估、治疗反应预测和预后中的应用。
