Clinical Practice Guidelines for tuberous sclerosis complex‐associated renal angiomyolipoma by the Japanese Urological Association: Summary of the update

Abstract

New clinical issues have been raised through an interval of 7 years from the previous version (2016). In this study, we update the “Clinical Practice Guidelines for tuberous sclerosis complex‐associated renal angiomyolipoma” as a 2023 version under guidance by the Japanese Urological Association. The present guidelines were cooperatively prepared by the Japanese Urological Association and Japanese Society of Tuberous Sclerosis Complex; committee members belonging to one of the two societies or specializing in the treatment of this disease were selected to prepare the guidelines in accordance with the “Guidance for preparing treatment guidelines” published by Minds (2020 version). The “Introduction” consisted of four sections, “Background Questions (BQ)” consisted of four sections, “Clinical Questions (CQ)” consisted of three sections, and “Future Questions (FQ)” consisted of three sections (total: 14 sections). Concerning CQ, an agreement was confirmed through voting by the committee members based on the direction and strength of recommendation, accuracy of evidence, and recommendation comments. The present guidelines were updated based on the current evidence. We hope that the guidelines will provide guiding principles for the treatment of tuberous sclerosis complex‐associated renal angiomyolipoma to many urologists, becoming a foundation for subsequent updating.

TSC1 splicing mutation in renal angiomyolipoma with epithelial cysts without fat: A very rare case report and literature review

“…Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease caused by inactivating mutations in the TSC1 or TSC2 gene, affecting the brain, kidneys, heart, skin, lung, and so on. There are 60%–80 % of patients with TSC had renal lesions, such as AML, renal cysts and renal cell carcinoma (RCC) [ 11 , 12 ]. AML were detected in 49 % patients with TSC [ 13 ].…”

“…Multiple AMLs or other renal lesions (cysts or RCCs) have been considered as one of clinical diagnosis evidences of TSC. The normal gene result does not exclude TSC, because 10%–25 % of TSC patients identified no gene mutation by conventional genetic testing [ 12 ]. In our case, this patient didn’t have a family history of this disease and other clinical presentation.…”

“…Renal AMLEC is asymptomatic in an early small-diameter lesion. But symptoms, such as flank pain, a palpable mass, heamaturia, appear with an increasing tumor diameter [ 12 ]. The vast majority of AMLs are isolated solid tumors with rich fat content, which can be diagnosed by CT or ultrasound imaging [ 2 , 5 , 15 ].…”

“…Symptomatic AMLEC more than 4 cm was recommended to perform surgical removal or selective arterial embolization, in order to prevent tumor hemorrhage or rupture [ 21 , 22 ]. Physicians can perform nephrectomy or partial nephrectomy when malignant tumors couldn’t be excluded [ 12 ]. The everolimus is weakly recommended for renal AMLEC related to TSC [ 12 ].…”

“…Physicians can perform nephrectomy or partial nephrectomy when malignant tumors couldn’t be excluded [ 12 ]. The everolimus is weakly recommended for renal AMLEC related to TSC [ 12 ].…”