Hou Tieying, Abu-Salah Asma, Cummings Oscar W, Halum Stacey, Mesa Hector, Zhang Dongwei
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN, USA.
Ear Nose Throat J. 2023 Jul 28:1455613231189144. doi: 10.1177/01455613231189144.
The purpose of this study is to evaluate clinical information, laboratory results, and pathologic findings of patients with amyloidosis involving larynx, oral cavity, and pharynx from our institute. A total of 39 specimens from 28 patients were retrieved from 2000 to 2020. Data collection included clinical presentation, radiographic, laboratory results, and pathologic findings. A total of 12 patients had laryngeal amyloidosis and true vocal cord was the most common location. Protein electrophoresis detected monoclonal protein in 10% (1/10) of patients tested. Two patients had hematopoietic disorder (2/12, 17%) and another patient had a peptide profile consistent with amyloid transthyretin (ATTR) detected by mass spectrometry. Twelve patients showed amyloidosis in the oral cavity with 75% involving the tongue. Monoclonal protein was found in 89% of cases tested. Nine patients (9/12, 75%) had systematic involvement including 6 with hematopoietic malignancy and 3 with biopsy-confirmed systemic light chain amyloidosis. Compared to the laryngeal amyloidosis, amyloid deposition in oral cavity had a significant higher association with systematic disease ( < .01). Pharyngeal amyloidosis was seen in 7 patients. Three of 6 patients tested (3/6, 50%) were found to have biopsy-confirmed hematopoietic malignancy. Laryngeal amyloidosis is mostly a localized disease. Amyloidosis involving oral cavity is associated with significantly higher risk of systematic involvement which warrants a comprehensive laboratory, radiographic, and pathologic workup. There is limited data about pharynx amyloidosis. Oropharynx and hypopharynx amyloidosis appear to be more likely associated with underlying hematologic malignancy compared to nasopharynx involvement.
本研究的目的是评估我院喉、口腔和咽淀粉样变性患者的临床信息、实验室检查结果及病理表现。2000年至2020年共收集了28例患者的39份标本。数据收集包括临床表现、影像学检查、实验室检查结果及病理表现。共有12例患者患有喉淀粉样变性，其中真声带是最常见的发病部位。在接受检测的患者中，10%（1/10）的患者蛋白电泳检测到单克隆蛋白。2例患者患有造血系统疾病（2/12，17%），另有1例患者通过质谱检测发现其肽谱与转甲状腺素蛋白淀粉样变性（ATTR）一致。12例患者口腔出现淀粉样变性，其中75%累及舌部。在接受检测的病例中，89%发现有单克隆蛋白。9例患者（9/12，75%）出现系统性受累，其中6例患有造血系统恶性肿瘤，3例经活检证实为系统性轻链淀粉样变性。与喉淀粉样变性相比，口腔淀粉样变性与系统性疾病的相关性显著更高（P<0.01）。7例患者出现咽淀粉样变性。在接受检测的6例患者中，3例（3/6，50%）经活检证实患有造血系统恶性肿瘤。喉淀粉样变性大多为局限性疾病。累及口腔的淀粉样变性与系统性受累的风险显著更高相关，因此需要进行全面的实验室、影像学及病理检查。关于咽淀粉样变性的数据有限。与鼻咽部受累相比，口咽和下咽淀粉样变性似乎更可能与潜在的血液系统恶性肿瘤相关。
