Sonoda Yuki, Hirasaki Masataka, Usami Yoko, Torigoe Tomoaki, Kawasaki Tomonori, Suzuki Nobuyuki, Shiraki Yukihiro, Enomoto Atsushi, Imada Hiroki, Baba Yasutaka
Department of Diagnostic Radiology, Saitama Medical University International Medical Centre, 1397-1, Yamane, Hidaka, Saitama 350-1298 Japan.
Department of Clinical Cancer Genomics, Saitama Medical University International Medical Centre, 1397-1, Yamane, Hidaka, Saitama 350-1298 Japan.
Radiol Case Rep. 2024 Aug 17;19(11):4963-4969. doi: 10.1016/j.radcr.2024.07.113. eCollection 2024 Nov.
We present a case of pulmonary metastasis originating from renal angiomyolipoma (AML), as evidenced by whole-exome sequencing (WES) analysis. Although AML predominantly arises in the kidneys, it can emerge in various body parts, making it important to distinguish between multicentric development and metastasis. However, previous studies have not distinguished between these conditions. Our case features an 82-year-old woman with a history of renal AML who presented with multiple, randomly distributed, bilateral pulmonary nodules of varying size and pure fat densities. The patient's condition followed a benign course over 10 years. Through WES, we discovered shared mutations in pulmonary lesions that were absent in the patient's blood, including a pathological mutation in TSC2, suggesting a metastatic origin from renal AML. Knowledge of the pulmonary manifestations of AML and their distinctive imaging findings can help radiologists and clinicians diagnose and manage patients with similar presentations.
我们报告一例源自肾血管平滑肌脂肪瘤（AML）的肺转移病例，全外显子测序（WES）分析证实了这一点。虽然AML主要发生于肾脏，但它也可出现在身体的各个部位，因此区分多中心发展和转移很重要。然而，以往的研究并未区分这些情况。我们的病例为一名82岁女性，有肾AML病史，表现为多个大小不一、随机分布的双侧肺结节，且密度为纯脂肪密度。患者的病情在10年中呈良性发展。通过WES，我们在肺部病变中发现了患者血液中不存在的共同突变，包括TSC2的病理性突变，提示肺转移源自肾AML。了解AML的肺部表现及其独特的影像学表现有助于放射科医生和临床医生对有类似表现的患者进行诊断和管理。
