淋巴管平滑肌瘤病及肺部影像诊断研究进展

doi:10.16150/j.1671-2870.2023.05.013

摘要/Abstract

摘要：

淋巴管平滑肌瘤病（lymphangio leiomyomatosis, LAM）是一种罕见的多系统肿瘤性疾病，主要影响育龄期和绝经前女性。LAM病变可累及肺[即肺淋巴管平滑肌瘤病（pulmonary Lymphangioleiomyomatosis，PLAM）]、肾[如血管平滑肌脂肪瘤（angiomyolipoma，AML）]和淋巴系统（如淋巴管平滑肌瘤、乳糜渗出）。随着病程的进展，LAM会破坏肺组织、改变肺结构，并导致胸、腹部淋巴管肌瘤的出现。LAM患者在早期症状较为轻微，临床表现缺乏特异性，极易被误诊，常因肺功能衰歇，反复发生气胸而死亡，肺移植是目前唯一有效的治疗方法，尽管移植后复发率较高。胸部高分辨CT（high resolution computer tomography，HRCT）是诊断LAM的关键手段，不仅有助于LAM的确诊，也可用于评估患者的病情严重程度和预后。随着医学影像技术的快速发展，特别是光子计数探测器CT（photon counting detector CT, PCD-CT）的应用，因其高分辨率和噪声减少能力，可以显著提高图像质量，与传统CT扫描相比，PCD-CT的辐射剂量可减少35.7%，非常适合用于LAM的诊断和长期随访。

关键词: 淋巴管平滑肌瘤病, 影像学, 光子计数探测器计算断层摄影

Abstract:

Lymphangioleiomyomatosis (LAM) is a rare multisystem neoplastic disease and is primarily affected women of childbearing age and premenopausal women. LAM lesions involve the lungs [known as pulmonary Lymphangioleiomyomatosis (PLAM)], kidneys [such as angiomyolipoma (AML)], and the lymphatic system (including lymphangioleiomyomas and chylous effusions). As the disease progresses, LAM disrupts lung tissue, alters lung structure, and leads to the development of lymphangioleiomyomas in the chest and abdominal lymphatic ducts. Early symptoms in LAM patients are mild, and clinical presentations lack specificity, making misdiagnosis common. Death can occur due to pulmonary function deterioration and recurrent pneumothorax. Currently, lung transplantation is considered the only effective treatment, although recurrence rates are relatively high. High-resolution computer tomography (HRCT) of the chest is a key diagnostic tool for LAM,which aid not only in the diagnosis but also in assessing the severity and prognosis of the condition. With the rapid development of medical imaging technology, particularly the use of photon counting detector CT (PCD-CT), which offers high resolution and noise reduction capabilities, significant improvements in image quality can be achieved. Compared to traditional CT scans, PCD-CT reduces radiation exposure by 35.7%, making it highly suitable for diagnosing and long-term monitoring of LAM.

Key words: Lymphangio-leiomyomatosis, Radiology, Photon counting detector computed tomography

中图分类号:

董莱, 王炜, 吴家良, 刘嬿溥, 管鑫, 陈克敏. 淋巴管平滑肌瘤病及肺部影像诊断研究进展[J]. 诊断学理论与实践, 2023, 22(05): 501-506.

DONG Lai, WANG Wei, WU Jialiang, LIU Yanpu, GUAN Xin, CHEN Kemin. Pulmonary imaging manifestations and related research progress of lymphangioleiomyomatosis[J]. Journal of Diagnostics Concepts & Practice, 2023, 22(05): 501-506.

图/表 2

参考文献 34

[1]	MCCORMACK F X, TRAVIS W D, COLBY T V, et al. Lymphangioleiomyomatosis: calling it what it is: a low-grade, destructive, metastasizing neoplasm[J]. Am J Respir Crit Care Med, 2012, 186(12):1210-1212. doi: 10.1164/rccm.201205-0848OE URL
[2]	JOHNSON S R, CORDIER J F, LAZOR R, et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis[J]. Eur Respir J, 2010, 35(1):14-26. doi: 10.1183/09031936.00076209 pmid: 20044458
[3]	MCCORMACK F X. Lymphangioleiomyomatosis: a clinical update[J]. Chest, 2008, 133(2):507-516. doi: 10.1378/chest.07-0898 pmid: 18252917
[4]	Johnson S R. Lymphangioleiomyomatosis[J]. Eur Respir J, 2006, 27(5):1056-1065. pmid: 16707400
[5]	中华医学会呼吸病学分会间质性肺疾病学组, 淋巴管肌瘤病共识专家组, 中国医学科学院罕见病研究中心, 等. 西罗莫司治疗淋巴管肌瘤病专家共识(2018)[J]. 中华结核和呼吸杂志, 2019, 42(2):92-97.
	Interstitial Lung Disease Group, Chinese Thoracic Society, Chinese Medical Association; Expert Consensus Group of Lymphangioleiomyomatosis; Rare Diseases Research Center, Chinese Academy of Medical Sciences; et al. Consensus Statement: sirolimus (rapamycin) as therapy for lymphangioleiomyomatosis (2018)[J]. Chin J Tuberc Respir Dis, 2019, 42(2):92-97.
[6]	CRIVELLI P, LEDDA R E, TERRANEO S, et al. Role of thoracic imaging in the management of lymphangioleiomyomatosis[J]. Respir Med, 2019, 157:14-20. doi: S0954-6111(19)30270-7 pmid: 31470185
[7]	PACHECO-RODRÍGUEZ G, STEAGALL W K, SAMSEL L, et al. Circulating Lymphangioleiomyomatosis Tumor Cells With Loss of Heterozygosity in the TSC2 Gene Show Increased Aldehyde Dehydrogenase Activity[J]. Chest, 2019, 156(2):298-307. doi: 10.1016/j.chest.2019.03.040 URL
[8]	LIU H J, KRYMSKAYA V P, HENSKE E P. Immunotherapy for Lymphangioleiomyomatosis and Tuberous Sclerosis: Progress and Future Directions[J]. Chest, 2019, 156(6):1062-1067. doi: 10.1016/j.chest.2019.08.005 URL
[9]	WANG Q, LUO M, XIANG B, et al. The efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis[J]. Respir Res, 2020, 21(1):55. doi: 10.1186/s12931-020-1316-3
[10]	YOON H Y, HWANG J J, KIM D S, et al. Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis[J]. Orphanet J Rare Dis, 2018, 13(1):204. doi: 10.1186/s13023-018-0946-8
[11]	HARKNETT E C, CHANG W Y, BYRNES S, et al. Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis[J]. QJM, 2011, 104(11):971-979. doi: 10.1093/qjmed/hcr116 pmid: 21764810
[12]	立克拉虎, 杨文洁. 肺淋巴管平滑肌瘤病肺部病变的影像学研究进展[J]. 诊断学理论与实践, 2022, 21(6): 746-750.
	LI K L H, YANG W J. Advances in imaging study of pulmonary lymphangioleiomyomatosis[J]. Journal of Diagnostics Concepts & Practice, 2022, 21(06): 746-750.
[13]	AMARAL A F, DE OLIVEIRA M R, DIAS O M, et al. Concentration of Serum Vascular Endothelial Growth Factor (VEGF-D) and Its Correlation with Functional and Clinical Parameters in Patients with Lymphangioleiomyomatosis from a Brazilian Reference Center[J]. Lung, 2019, 197(2):139-146. doi: 10.1007/s00408-018-00191-3 pmid: 30623243
[14]	李孟丽, 闵黎, 张小丽, 等. 肺淋巴管平滑肌瘤病生物标志物的研究进展[J]. 华西医学, 2021, 36(1):110-113.
	LI M L, MIN L, ZHANG X L, et al. Research progress on biomarkers of pulmonary lymphangioleiomyomatosis[J]. West Chin Med J, 2021, 36(1):110-113.
[15]	管庶春, 何江波, 曹丹, 等. 肺及腹膜后淋巴管肌瘤病一例及文献复习[J]. 罕少疾病杂志, 2015(5):15-17.
	GUAN S C, HE J B, CAO D, et al. One Case of Lung and Retroperitoneal Lymphangioleiomyomatosis and Literature Review[J]. J Rare Uncommon Dis, 2015(5):15-17.
[16]	梁燕珊. 肺部弥漫性囊腔表现的CT分析[D]. 广州医科大学, 2021.
	LIANG Y S. CT findings of Diffuse cystic in lungs[D]. Guangzhou Medical University, 2021.
[17]	AGHAEIMEYBODI F, NAJAFIZADEH K, RAZAVI-RATKI S K, et al. Effects of Sirolimus on Lung function in patients with Lymphangioleiomyomatosis[J]. Caspian J Intern Med, 2019, 10(1):7-10. doi: 10.22088/cjim.10.1.7 pmid: 30858935
[18]	WANG Q, LUO M, XIANG B, et al. The efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis[J]. Respir Res, 2020, 21(1):55. doi: 10.1186/s12931-020-1316-3
[19]	PRIZANT H, HAMMES S R. Minireview: Lymphangio-leiomyomatosis (LAM): The "Other" Steroid-Sensitive Cancer[J]. Endocrinology. 2016, 157(9):3374-3383. doi: 10.1210/en.2016-1395 URL
[20]	KHAWAR M U, YAZDANI D, ZHU Z, et al. Clinical outcomes and survival following lung transplantation in patients with lymphangioleiomyomatosis[J]. J Heart Lung Transplant, 2019, 38(9):949-955. doi: 10.1016/j.healun.2019.06.015 URL
[21]	O'MAHONY A M, LYNN E, MURPHY D J, et al. Lymphangioleiomyomatosis: a clinical review[J]. Breathe (Sheff), 2020, 16(2):200007.
[22]	GUPTA N, FINLAY G A, KOTLOFF R M, et al. Lymphangioleiomyomatosis diagnosis and management: high-resolution chest computed tomography, transbronchial lung biopsy, and pleural disease management. An official american thoracic society/japanese respiratory society clinical practice guideline[J]. Am J Respir Crit Care Med, 2017, 196(10):1337-1348. doi: 10.1164/rccm.201709-1965ST URL
[23]	STEAGALL W K, PACHECO-RODRIGUEZ G, DARLING T N, et al. The lymphangioleiomyomatosis lung cell and its human cell models[J]. Am J Respir Cell Mol Biol, 2018, 58(6):678-683. doi: 10.1165/rcmb.2017-0403TR URL
[24]	MCCORMACK F X, GUPTA N, FINLAY G R, et al. Official american thoracic society/japanese respiratory society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management[J]. Am J Respir Crit Care Med, 2016, 194(6):748-761. doi: 10.1164/rccm.201607-1384ST URL
[25]	AVILA N A, DWYER A J, RABEL A, et al. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features[J]. Radiology, 2007, 242(1):277-285. doi: 10.1148/radiol.2421051767 pmid: 17105849
[26]	吴喜端, 曾庆思, 黄绥丹, 等. HRCT扫描对肺淋巴管平滑肌瘤病的肺部结构研究[J]. 广州医科大学学报, 2017, 45(5):5-8.
	WU X D, ZENG Q S, HUANG S D, et al. Lung structural assessment in pulmonary lymphangioleiomyomatosis using HRCT[J]. Acad J Guangzhou Med Univ, 2017, 45(5):5-8.
[27]	KIRCHNER J, STEIN A, VIEL K, et al. Pulmonary lymphangioleiomyomatosis: high-resolution CT findings[J]. Eur Radiol, 1999, 9(1):49-54. pmid: 9933379
[28]	MATSUI K, BEASLEY M B, NELSON W K, et al. Prognostic significance of pulmonary lymphangioleiomyomatosis histologic score[J]. Am J Surg Pathol, 2001, 25(4):479-484. doi: 10.1097/00000478-200104000-00007 pmid: 11257622
[29]	章浩伟, 李树晗, 刘颖, et al. 新兴光子计数计算机断层扫描原理、技术挑战与临床应用分析[J]. 生物医学工程学杂志, 2023, 40(5): 1012-1018.
	ZHANG H W, LI S H, LIU Y, et al. A comprehensive review on photon-counting computed tomography: Principles, technical hurdles and analysis of clinical applications[J]. J Biomed Eng, 2023, 40(5): 1012-1018.
[30]	张挽时. 光子计数CT成像技术和临床价值[J]. 中华放射学杂志, 2023, 57(10):1133-1136.
	Zhang W S. Imaging technique and clinical value of photon counting CT[J]. Chinese J Radiol, 2023, 57(10): 1133-1136.
[31]	SYMONS R, POURMORTEZA A, SANDFORT V, et al. Feasibility of dose-reduced chest ct with photon-counting detectors: initial results in humans[J]. Radiology, 2017, 285(3):980-989. doi: 10.1148/radiol.2017162587 pmid: 28753389
[32]	WOELTJEN M M, NIEHOFF J H, MICHAEL A E, et al. Low-dose high-resolution photon-counting CT of the lung: radiation dose and image quality in the clinical routine[J]. Diagnostics (Basel), 2022, 12(6):1441.
[33]	VAN BALLAER V, DUBBELDAM A, MUSCOGIURI E, et al. Impact of ultra-high-resolution imaging of the lungs on perceived diagnostic image quality using photon-counting CT[K]. Eur Radiol, 2023.
[34]	YOUNG L R, VANDYKE R, GULLEMAN P M, et al. Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other disea-ses[J] Chest, 2010, 138(3):674-681. doi: 10.1378/chest.10-0573 URL

指标	PLAM	PLCH	LIP
年龄	多为育龄期	多为青年	各年龄段
性别	多为女性	多为男性	多为女性
吸烟史	（-）	（+）	（-）
囊腔大小、分布、形状	囊腔大小不等，且呈弥漫随机分布，多发圆形及类圆形	囊腔大小不等，可以较大，形态多样，部分不规则，两中上肺野分布为主，两侧肋膈角区少见	囊腔通常较小，圆形及类圆形，可以沿淋巴管分布
囊壁厚度、边界及囊内间隔	囊壁较薄，边界大部分清晰，部分模糊，未见明显囊内间隔	囊壁厚壁不一，部分可见囊壁较厚，边界模糊，囊内可见连续或不连续分隔	囊壁较薄，囊壁边界稍模糊，无囊内间隔形成
囊腔周围肺组织改变	随着病变进展，可见增粗增厚的小叶间隔和支气管血管束	病变中晚期肺间质纤维化明显	主要特征为支气管血管束增粗，小叶间隔增厚，合并渗出，模糊影，以上表现在LIP中多见