本研究的目的是研究内支气管超声引导经支气管针吸活检（EBUS-TBNA）/内镜超声引导细针穿刺（EUS-FNA）在淀粉样变性诊断中的应用性，以及质谱（MS）在淀粉样亚型鉴定中的可行性。从2011年至2020年，在两家三级保健中心诊断为淀粉样变性的患者，包括了EBUS-TBNA/EUS-FNA的结果、MS亚型、临床发现和结果。共纳入8例患者：其中7例行EBUS-TBNA进行纵隔淋巴结活检，1例进行EUS-FNA对肝门淋巴结进行穿刺。年龄范围为37至79岁（中位数为69岁），男女患者人数相等。患者的临床病史包括滤泡性淋巴瘤、淋巴浆细胞淋巴瘤、类风湿性关节炎、可疑结节病、肝硬化、慢性肾功能不全、可疑肺淀粉样变性和心脏淀粉样变性各1例。所有病例的直接涂片（n = 5）或ThinPrep涂片（n = 3）显示出蜡质、无特定形态的物质，经过刚果红染色证实为淀粉样物质。免疫组织化学染色显示3例中2例的兰姆达（lambda）染色占主导地位。所有病例均进行了MS鉴定，鉴定结果显示5例轻链（AL）型、1例重链/AL型和2例提示为AL淀粉样变性。7例患者进行骨髓活检，其中3例有单克隆浆细胞，1例有淋巴浆细胞淋巴瘤。4例全身性淀粉样变性患者中有2例接受化疗并存活，3例局部性病变的患者观察期内保持稳定。EBUS-TBNA/EUS-FNA对淀粉样变性的诊断具有有效性，并提供足够的材料进行辅助检测，包括MS，该检测可以鉴定前体淀粉样蛋白，从而实现适当的患者管理。© 2023美国癌症协会。

The objectives of this study were to investigate the utility of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA)/endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) for the diagnosis of amyloidosis coupled with the feasibility of mass spectrometry (MS) for amyloid subtyping.All patients who had amyloid diagnosed by EBUS-TBNA/EUS-FNA at two tertiary care centers from 2011 to 2020 were retrieved along with the MS subtype, clinical findings, and outcomes.Eight patients were included: seven underwent EBUS-TBNA of mediastinal lymph nodes, and one underwent EUS-FNA of a periportal lymph node. Ages ranged from 37 to 79 years (median, 69 years), with equal numbers of men and women. Presenting clinical history included one case each of follicular lymphoma, lymphoplasmacytic lymphoma, rheumatoid arthritis, possible sarcoid, cirrhosis, and chronic renal insufficiency, and one case each of suspected pulmonary and cardiac amyloidosis. All cases showed waxy, amorphous material on direct smears (n = 5) or ThinPrep slides (n = 3), which were confirmed as amyloid on Congo Red staining. Immunohistochemistry showed dominant lambda staining in two of three cases. MS was performed in all cases and identified five of the light-chain (AL) type, one of the heavy-chain/AL type, and two suggestive of AL amyloidosis. Bone marrow biopsy performed in seven patients demonstrated that three had monoclonal plasma cells and one had lymphoplasmacytic lymphoma. Two of four patients with systemic amyloidosis received chemotherapy and remained alive, whereas three with localized disease remained stable under observation.EBUS-TBNA/EUS-FNA is effective for amyloidosis diagnosis and provides adequate material for ancillary tests, including MS, which can identify the precursor amyloidogenic protein, leading to appropriate patient management.© 2023 American Cancer Society.