Tuberous sclerosis-associated renal angiomyolipoma: A report of two cases and review of the literature

Abstract

Abstract.In the general population, tuberous sclerosis-associated renal angiomyolipoma (RAML) is a rare benign hamartoma with potentially life-threatening complications and a poor prognosis. The two patients reported in the present study, who were diagnosed with bilateral RAML and spontaneous rupture of the RAML with tuberous sclerosis, presented with flank pain, abdominal pain, hemorrhage, hematuria and multiple lesions. The two cases are representative examples of the disease, and highlight the importance of determining the risk of acute hemorrhage in the early stages, and the significance of timely and proper treatment. IntroductionRenal angiomyolipoma (RAML) is a type of benign hamartoma that may occur sporadically or be associated with tuberous sclerosis complex (TSC) (1-3). It has been reported that the number of sporadic angiomyolipomas is four times that of the cases associated with TSC (3,4). Generally, ~80% of patients with TSC have hamartoma. However, RAML associated with TSC comprises only 0.3% of all renal neoplasms (5). In short, RAML is common in patients with TSC, but rare in the general population (2). Notably, TSC-associated RAMLs are typically bilateral and multifocal, larger, and more likely to lead to potentially life-threatening hemorrhage compared with isolated RAML (1). TSC is a rare autosomal dominant disease with incomplete penetrance; it is characterized by a constellation of findings affecting multiple organ systems, and has a worldwide prevalence of ~1/6,000 to 1/12,000 individuals (2,6-8). According to the relevant literature, TSC may be associated with glial tumors, adenoma sebaceum, rhabdomyoma and hamartomatous tumors of the thyroid, retina, liver, pancreas, lung, kidney, adrenals and ovaries. The clinical manifestations of TSC depend on the target organs, such as the brain, skin, kidneys, lungs and heart, or the organs that are oppressed by the expansion of the lesions (3,9,10).The present study reports two cases of TSC-associated RAML. Case reportsCase one. A 31-year-old woman with a chief complaint of left flank pain and abdominal pain of three months duration was admitted to Peking University Shenzhen Hospital (Shenzhen, China) in March 2016. Laboratory examinations yielded the following results: Red blood cell (RBC) count, 3.59x10 12 /l (normal range, 4.0-5.5x10 12 /l); and hemoglobin (HGB) level, 111 g/l (normal range, 120-160 g/l). Subsequently, a contrast-enhanced computed tomography (CE-CT) scan indicated bilateral multiple renal masses with a large hematoma in the left kidney (Fig. 1A), and no enhancement (Fig. 1B). Additionally, magnetic resonance imaging (MRI) of the brain was performed, revealing multiple swellings of the cortex, with increased signal intensity in the left temporal lobe, parietal lobe, occipital lobe, and two frontal lobes, and a small focal ischemia in the right basal ganglion (Fig. 2). The patient was diagnosed with bilateral RAMLs and spontaneous rupture of the left RAML with TSC, which was temporarily managed conservatively without further interv...

A Primary Adrenal Epithelioid Angiomyolipoma (PEComa) in a Patient with Tuberous Sclerosis Complex: Report of a Case and Review of the Literature

“…TSC is a syndrome leading to the development of multiple tumors in the retina, skin, kidneys, adrenals, lungs, and other organs. e estimated worldwide prevalence of TSC is 1 in 6,000 or 12,000 people [5]. We describe the case of a 32-year-old gentleman with a history of TSC who presented with subacute back pain and a large intraabdominal mass.…”

Bilateral facial cutaneous angiomyolipomas: First case in the literature and a possible correlation with human immunodeficiency virus

“…Angiomyolipomas (AMLs) are a subtype of tumor in a family of benign neoplasms that consist of smooth-muscle-like cells, adipocyte-like cells, and epithelioid cells [ 1 ]. Although they are typically renal in origin, extrarenal AMLs have rarely been reported, both sporadically and in association with rare genetic conditions [ 2 , 3 ]. The majority of reported extrarenal AMLs are hepatic and retroperitoneal, and cutaneous AMLs are even more uncommon [ 4 , 5 ].…”

Normalization of enzyme expression and activity regulating vitamin A metabolism increases RAR-beta expression and reduces cellular migration in diseases caused by tuberous sclerosis gene mutations

“…Tuberous sclerosis, angiomyolipoma and lymphangioleiomyomatosis (LAM) are diseases characterised by slow growing tumours that are affecting many parts of the body [1] [2] including the skin, brain, kidneys and the lungs. They are caused by the mutation of tumour suppressor genes tuberous sclerosis 1 or 2 (TSC1 or TSC2) [1].…”