Janumpally Sanjana, Konopnicki Alexander, Panesar Roopkiran, Jana Bagi
Internal Medicine, University of Texas Medical Branch, Galveston, USA.
Hematology and Oncology, University of Texas MD Anderson Cancer Center, Galveston, USA.
Cureus. 2025 Jul 23;17(7):e88627. doi: 10.7759/cureus.88627. eCollection 2025 Jul.
Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous disorder where pathogenic variants cause overactivation of the rapamycin (mTOR) pathway, leading to tumor formation. These benign tumors, or hamartomas, occur in multiple organs, including the brain, skin, eyes, kidneys, lungs, and liver. Renal angiomyolipomas (AMLs) occur frequently in TSC and are highly vascular tumors primarily composed of blood vessels, smooth muscle, and mature adipose tissue. Renal AMLs greater than 10 cm are rarely seen and are considered "giant" AMLs. Everolimus, an mTOR inhibitor, is a treatment option to slow the growth of renal AMLs. Renal tumors, especially renal AMLs, are the most common cause of perinephric hematomas. For renal AMLs with a high risk of bleeding, embolization can be used to delay renal decline. We present the case of a young patient with a history of TSC complicated by bilateral renal AMLs that required right-sided nephrectomy and chronic kidney disease stage four who presented with progression of her known left-sided renal AML to giant status and perinephric hematoma following both everolimus treatment and multiple embolizations. The purpose of this case report is to reinforce the importance of routine oncology follow-up to prevent the progression of renal AMLs and to highlight the multidisciplinary approach of multiple specialties to preserve the quality of life and renal function of our young patient with a rarely reported "giant" AML.
结节性硬化症（TSC）是一种常染色体显性遗传的神经皮肤疾病，其致病变异会导致雷帕霉素（mTOR）信号通路过度激活，进而引发肿瘤形成。这些良性肿瘤，即错构瘤，可发生于多个器官，包括脑、皮肤、眼睛、肾脏、肺和肝脏。肾血管平滑肌脂肪瘤（AML）在TSC患者中较为常见，是一种高度血管化的肿瘤，主要由血管、平滑肌和成熟脂肪组织组成。直径大于10厘米的肾AML较为罕见，被视为“巨大”AML。依维莫司是一种mTOR抑制剂，是减缓肾AML生长的一种治疗选择。肾肿瘤，尤其是肾AML，是肾周血肿最常见的原因。对于有高出血风险的肾AML，可采用栓塞术来延缓肾功能衰退。我们报告了一例年轻患者，有TSC病史，合并双侧肾AML，因右侧肾AML需要行肾切除术，且处于慢性肾脏病4期，在接受依维莫司治疗和多次栓塞术后，其已知的左侧肾AML进展为巨大状态并出现肾周血肿。本病例报告的目的是强调肿瘤学常规随访对于预防肾AML进展的重要性，并突出多学科协作方法在维护这位患有罕见“巨大”AML的年轻患者生活质量和肾功能方面的作用。
