Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems. Renal angiomyolipoma represents 0.3% of all primary renal tumors and are classified as benign mixed mesenchymal neoplasms. In this report, we reported the clinical presentation of a 28-year-old individual who was received by the department of urology. The patient was admitted presenting with asymptomatic, macroscopic hematuria that had been ongoing for a period of 10 days. Subsequent diagnostic evaluations revealed an association between the presenting urinary condition and tuberous sclerosis complex with a concurrent renal angiomyolipom.

We identified a young female patient admitted for suspected renal malignancy. Partial nephrectomy was performed after imaging evaluation and discussion. Postoperative biopsy pathology reported multiple low-grade eosinophilic renal tumors (LOTs) with angiomyolipoma growth. After reviewing the data, we found that LOT was mostly solitary and occurred in middle-aged and elderly patients. This case is unique and we share it to improve the understanding of this disease.

UNASSIGNED: Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and asymptomatic. However, severe, rapidly growing tuberous sclerosis can be fatal. Renal angiomyolipomas are commonly associated with TSD, which can be further worsened by the presence of aneurysms and put the patient at risk for life-threatening hemorrhage.
UNASSIGNED: A 29-year-old female presented to the emergency room complaining of right flank pain with an unknown past medical history of tuberous sclerosis. The patient was suspected to have TSD as she fulfilled one of the major features of TSD required to establish a possible diagnosis. On computed tomography scan imaging, bilateral fat-density nodules were revealed in both kidneys. The largest is 7 cm in the left kidney, located at the upper pole, and was associated with a bleeding aneurysm measuring 4 cm in diameter. While the other fatty nodule was recorded at 6 cm in the right kidney at the lower pole.
UNASSIGNED: After evaluation, the patient was planned for diagnostic catheterization of the left kidney, through which selective angiography of the left kidney was done, and eventually, selective embolization of the branch supplying the left angiomyolipoma was performed.
UNASSIGNED: The authors finally conclude that thorough investigations, including systemic manifestations, must be taken into consideration when suspecting tuberous sclerosis, and a conservative approach must always be prioritized before taking any decision toward invasive approaches.

Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-occupying lesions. Initially, the patient was thought to have metastasis of a pancreatic tumor. However, the patient was diagnosed as pancreatic neuroendocrine tumors, liver perivascular epithelioid tumors, splenic hamartoma, and renal angiomyolipoma by pathological examination after surgery. We performed genetic mutation detection to identify that tuberous sclerosis complex 2 gene presented with a heterozygous variant. Tuberous sclerosis often presents with widespread tumors, but it is less common to present with pancreatic neuroendocrine tumors and liver perivascular tumors as highlighted in the case. So we analyzed the relationship between TSC gene mutations and related tumors. And we also reviewed the current molecular mechanisms and treatments for tuberous sclerosis complex.

The aim of this review is to evaluate the current evidence regarding the best management in terms of active surveillance of angiomyolipoma (AML) cases less than 4 cm, particularly the optimal timing of active surveillance. In addition, we aimed to describe their initial size, clinical presentation, and growth rates. The present systematic review included prospective and retrospective studies that evaluated and followed up patients with AML through active surveillance. Studies were retrieved through an online bibliographic search of the Medline database via PubMed, SCOPUS, Web of Science, and Cochrane Library from their inception to January 2022. Seven studies were included in the present systematic review. Concerning the active surveillance protocol, only four studies describe the frequency of active surveillance and the utilized imaging modality. Some studies followed up lesions by ultrasound annually for two to five years, while other studies followed-up patients twice for the first year, then annually for a median follow-up period of 49 (9-89) months. The used modalities were ultrasound, CT, and magnetic resonance imaging (MRI). Notably, the incidence of spontaneous bleeding was consistent across the included studies (ranging from 2.3 - 3.1%), except for one study which showed an incidence rate of 15.3%. In terms of the need for active treatment, the rate of active treatment was slightly higher in some studies than the others. However, this variation could not be considered clinically relevant to favor one surveillance strategy over the other. We concluded that active surveillance is the first line of management in all small asymptomatic ALMs. ALMs less than 2 cm do not require active surveillance. The current published literature suggested that active surveillance for two years may provide the same benefits as a five-year surveillance strategy, with fewer radiation hazards and less socioeconomic burden.

Tuberous Sclerosis is a complex genetic disease that has well-defined clinical criteria. These criteria don\'t include pancreatic neuroendocrine tumors. We represent a rare case of a patient, with a non-functioning pancreatic neuroendocrine tumor and concomitant diagnosis of tuberous sclerosis complex, and basement membrane disease. The patient was diagnosed based on typical radiologic findings. We have suggested close monitoring and during follow-up studies, the disease was stable. Interestingly the patient tested negative for Tuberous Sclerosis Complex (TSC), which suggests that she might be a somatic mosaic and the mutation level in blood lymphocytes was below the detection level. Moreover, a heterozygous pathogenic variant p.(Gly774Arg) and a heterozygous likely pathogenic variant p.(Gly1465Asp) were identified in the COL4A4 gene. COL4A4 gene is responsible for causing autosomal dominant basement membrane disease. In this case report, we discuss clinical, radiologic, and genetic aspects of these diseases, as well as optimal treatment and follow-up strategies. Thus, by presenting this case we would like to increase awareness of pancreatic neuroendocrine tumors in TSC and emphasize the need for follow-up monitoring.

UNASSIGNED: Renal angiomyolipoma (AML) is the most frequent mesenchymal tumor of the kidney. Although there is a rare possibility of malignant transformation of AML, this risk has not been studied in immunosuppressed patients. The safety of donors with AML and their kidney transplant recipients has not been well established.
UNASSIGNED: A literature search was conducted utilizing MEDLINE, EMBASE, and Cochrane databases from inception through May 15, 2018 (updated on October 2019). We included studies that reported the outcomes of kidney donors with AML or recipients of donor with AML. The protocol for this meta-analysis is registered with PROSPERO (International Prospective Register of Systematic Reviews; no. CRD42018095157).
UNASSIGNED: Fourteen studies with a total of 16 donors with AML were identified. None of the donors had a diagnosis of tuberous sclerosis complex (TSC), pulmonary lymphangioleiomyomatosis (LAM), or epithelioid variant of AML. Donor age ranged from 35 to 77 years, and recipient age ranged from 27 to 62 years. Ninety-two percent of the donors were female. Only 8% were deceased donor renal transplant. The majority underwent ex vivo resection (65%) before transplantation, followed by no resection (18%), and the remaining had in vivo resection. Tumor size varied from 0.4 cm to 7 cm, and the majority (87%) were localized in the right kidney. Follow-up time ranged from 1 to 107 months. Donor creatinine prenephrectomy ranged 0.89-1.1 mg/dL and postnephrectomy creatinine 1.0-1.17 mg/dL. In those who did not have resection of the AML, tumor size remained stable. None of the donors with AML had end-stage renal disease or died at last follow-up. None of the recipients had malignant transformation of AML.
UNASSIGNED: These findings are reassuring for the safety of donors with AML (without TSC or LAM) as well as their recipients without evidence of malignant transformation of AML. As such, this can also positively impact the donor pool by increasing the number of available kidneys.

Angiomyolipoma (AML) is a benign tumor that mainly occurs in the kidneys. Simultaneous involvement of the kidney and local regional lymph nodes is very rare and might be misdiagnosed as a metastasizing malignant cancer. In the present study, a 50-year-old woman was referred to our hospital after a routine health screening ultrasound. Sporadic multiple renal AML with lymph node involvement was suspected based on the clinical manifestations and radiologic features. Partial nephrectomy was performed and a para-inferior vena cava lymph node was removed. The pathologic results confirmed multiple AML with lymph node invasion. We also reviewed the English-language literature regarding renal AML with lymph node involvement. We found that middle-aged women were likely to develop this disease and that loin pain was the main presenting feature. Most patients had no history of tuberous sclerosis complex. Radical nephrectomy was the predominant treatment. No local recurrence or distant metastasis occurred in any patients after radical nephrectomy or partial nephrectomy. In conclusion, renal AML with lymph node involvement is rare but can occur in both patients with tuberous sclerosis complex and those with multiple sporadic AML. Partial nephrectomy should be the first-line treatment, after which further treatment is not necessary.

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.

Two variants of renal angiomyolipoma (AML)-classic and epithelioid-have been described. Although the epithelioid variant has been reported to demonstrate an aggressive clinical behavior, classic AML is usually benign. Herein, we report a case of a 42-year-old asymptomatic woman with a lipomatous variant of renal AML associated with an inferior vena cava thrombus managed with radical nephrectomy and caval thrombectomy.