The development for emerging biomarkers of lymphangioleiomyomatosis
Abstract 抽象 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 appropria...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-11-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03455-9 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846147452747382784 |
|---|---|
| author | Liting Huang Ying Xiao Lulu Yang Siying Ren |
| author_facet | Liting Huang Ying Xiao Lulu Yang Siying Ren |
| author_sort | Liting Huang |
| collection | DOAJ |
| description | Abstract 抽象 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.淋巴管平滑肌瘤病 （LAM） 是一种罕见的、进展缓慢的低级别转移性肿瘤，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，无需在适当的临床环境中进行肺活检即可诊断 LAM。然而，约 30% 患者的 VEGF-D 浓度正常，不足以诊断所有 LAM 病例。仍然需要确定与 LAM 相关的更多无创、安全、敏感和特异性的生物标志物。因此，当务之急是探索新型无创、安全和特异性的 LAM 诊断方法。本文旨在回顾与 LAM 相关的生物标志物，包括新发现的潜在生物标志物或显示出 LAM 中广泛使用的经典生物标志物的进展，并讨论它们在 LAM 诊断、疾病严重程度评估、治疗反应预测和预后中的应用。 |
| format | Article |
| id | doaj-art-dbb2dbc06ea84f8593c554f86aac8542 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-dbb2dbc06ea84f8593c554f86aac85422024-12-01T12:44:33ZengBMCOrphanet Journal of Rare Diseases1750-11722024-11-0119111410.1186/s13023-024-03455-9The development for emerging biomarkers of lymphangioleiomyomatosisLiting Huang0Ying Xiao1Lulu Yang2Siying Ren3Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South UniversityDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South UniversityDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South UniversityDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South UniversityAbstract 抽象 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.淋巴管平滑肌瘤病 （LAM） 是一种罕见的、进展缓慢的低级别转移性肿瘤，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，无需在适当的临床环境中进行肺活检即可诊断 LAM。然而，约 30% 患者的 VEGF-D 浓度正常，不足以诊断所有 LAM 病例。仍然需要确定与 LAM 相关的更多无创、安全、敏感和特异性的生物标志物。因此，当务之急是探索新型无创、安全和特异性的 LAM 诊断方法。本文旨在回顾与 LAM 相关的生物标志物，包括新发现的潜在生物标志物或显示出 LAM 中广泛使用的经典生物标志物的进展，并讨论它们在 LAM 诊断、疾病严重程度评估、治疗反应预测和预后中的应用。https://doi.org/10.1186/s13023-024-03455-9Lymphangioleiomyomatosis 淋巴管平滑肌瘤病Tuberous sclerosis complex结节性硬化症TSC2Biomarker 生物标志物VEGF-D |
| spellingShingle | Liting Huang Ying Xiao Lulu Yang Siying Ren The development for emerging biomarkers of lymphangioleiomyomatosis Orphanet Journal of Rare Diseases Lymphangioleiomyomatosis 淋巴管平滑肌瘤病 Tuberous sclerosis complex结节性硬化症 TSC2 Biomarker 生物标志物 VEGF-D |
| title | The development for emerging biomarkers of lymphangioleiomyomatosis |
| title_full | The development for emerging biomarkers of lymphangioleiomyomatosis |
| title_fullStr | The development for emerging biomarkers of lymphangioleiomyomatosis |
| title_full_unstemmed | The development for emerging biomarkers of lymphangioleiomyomatosis |
| title_short | The development for emerging biomarkers of lymphangioleiomyomatosis |
| title_sort | development for emerging biomarkers of lymphangioleiomyomatosis |
| topic | Lymphangioleiomyomatosis 淋巴管平滑肌瘤病 Tuberous sclerosis complex结节性硬化症 TSC2 Biomarker 生物标志物 VEGF-D |
| url | https://doi.org/10.1186/s13023-024-03455-9 |
| work_keys_str_mv | AT litinghuang thedevelopmentforemergingbiomarkersoflymphangioleiomyomatosis AT yingxiao thedevelopmentforemergingbiomarkersoflymphangioleiomyomatosis AT luluyang thedevelopmentforemergingbiomarkersoflymphangioleiomyomatosis AT siyingren thedevelopmentforemergingbiomarkersoflymphangioleiomyomatosis AT litinghuang developmentforemergingbiomarkersoflymphangioleiomyomatosis AT yingxiao developmentforemergingbiomarkersoflymphangioleiomyomatosis AT luluyang developmentforemergingbiomarkersoflymphangioleiomyomatosis AT siyingren developmentforemergingbiomarkersoflymphangioleiomyomatosis |