Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know / Complexo da Esclerose Tuberosa e rins: o que os nefrologistas devem saber

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin, lungs, and kidneys and other manifestations including seizures, cortical tubers, radial migration lines, autism and cognitive disability. The disease is associated with pathogenic variants in the TSC1 or TSC2 genes, resulting in the hyperactivation of the mTOR pathway, a key regulator of cell growth and metabolism. Consequently, the hyperactivation of the mTOR pathway leads to abnormal tissue proliferation and the development of solid tumors. Kidney involvement in TSC is characterized by the development of cystic lesions, renal cell carcinoma and renal angiomyolipomas, which may progress and cause pain, bleeding, and loss of kidney function. Over the past years, there has been a notable shift in the therapeutic approach to TSC, particularly in addressing renal manifestations. mTOR inhibitors have emerged as the primary therapeutic option, whereas surgical interventions like nephrectomy and embolization being reserved primarily for complications unresponsive to clinical treatment, such as severe renal hemorrhage. This review focuses on the main clinical characteristics of TSC, the mechanisms underlying kidney involvement, the recent advances in therapy for kidney lesions, and the future perspectives.

Resumo O complexo da esclerose tuberosa (CET) é uma doença autossômica dominante caracterizada pelo desenvolvimento de hamartomas no sistema nervoso central, coração, pele, pulmões e rins e outras manifestações, incluindo convulsões, tubérculos corticais, linhas de migração radial, autismo e deficiência cognitiva. A doença está associada a variantes patogênicas nos genes TSC1 ou TSC2, resultando na hiperativação da via mTOR, um importante regulador do crescimento e metabolismo celular. Consequentemente, a hiperativação da via mTOR leva à proliferação anormal do tecido e ao desenvolvimento de tumores sólidos. O envolvimento renal no CET é caracterizado pelo desenvolvimento de lesões císticas, carcinoma de células renais e angiomiolipomas renais, que podem progredir e causar dor, sangramento e perda da função renal. Nos últimos anos, houve uma mudança notável na abordagem terapêutica do CET, especialmente no tratamento das manifestações renais. Os inibidores de mTOR surgiram como a principal opção terapêutica, enquanto intervenções cirúrgicas como nefrectomia e embolização são reservadas principalmente para complicações que não respondem ao tratamento clínico, como hemorragia renal grave. Esta revisão se concentra nas principais características clínicas do CET, nos mecanismos subjacentes ao envolvimento renal, nos recentes avanços na terapia para lesões renais e nas perspectivas futuras.

A nomogram model for predicting spontaneous rupture and bleeding of renal angiomyolipoma / 现代泌尿外科杂志

【Objective】 To establish a risk model for predicting spontaneous rupture bleeding of renal angiomyolipoma (RAML) in order to better assess and deal with the risk. 【Methods】 The information of 436 RAML patients diagnosed during Jan.2018 and Dec.2022 was retrospectively analyzed.According to the inclusion and exclusion criteria, 216 patients were included and divided into the rupture bleeding group (n=35) and non-rupture bleeding group (n=181).The factors influencing spontaneous rupture bleeding were identified using univariate and multivariate analysis, and a nomogram was constructed accordingly with R language.The nomogram was evaluated using Calibration curve and area under the receiver operator characteristic curve (AUC). 【Results】 It was found that clinical manifestations, tumor diameter, tumor convexity, tumor blood supply, and tuberous sclerosis complex (TSC) were significantly correlated with rupture bleeding.The Calibration curve fitted well with the nomogram.The AUC was 0.956 (95%CI: 0.856-0.943), indicating that the nomogram had good statistical performance. 【Conclusion】 The model can effectively predict the risk of spontaneous rupture bleeding of renal angiomyolipoma.

A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma / 罕见病研究

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body. TSC-associated kidney disease is the leading cause of death in adult TSC patients. This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomyolipoma(RAML)treated with surgery. The patient, 25 years old, was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks. At a regular follow-up in July 2019, imaging examinations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm. Genetic testing showed a loss of heterozygosity in the EX18_ 41 of TSC2. After the diagnosis was confirmed, open left partial nephrectomy was performed, during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm. After the renal artery was occluded, kidney tumors were completely enucleate. Postoperative pathological confirmed the diagnosis of angiomyolipoma. This case provides a reference for the treatment of TSC-related renal giant hamartoma.

The Development and Current Status in the Diagnosis and Management of Tuberous Sclerosis Complex Associated with Renal Angiomyolipoma in China / 罕见病研究

Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML). In recent years, China has made progresss in the understanding of TSC-RAML, so that the standardization of the diagnosis and management of TSC-RAML have improved. Efforts have been taken in the studies of the pathogenesis and treatment of TSC-RAML. This article reviews the diagnosis, therapy, and research development of TSC-RAML in China.

The Analysis of Clinical Features of 186 Cases of Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma / 罕见病研究

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

Discussion on the surgical timing of rupture and hemorrhage of renal angiomyoli-poma / 北京大学学报(医学版)

Objective:To investigate the effect of different surgical timing on the surgical treatment of renal angiomyolipoma(RAML)with rupture and hemorrhage.Methods:The demographic data and peri-operative data of 31 patients with rupture and hemorrhage of RAML admitted to our medical center from June 2013 to February 2023 were collected.The surgery within 7 days after hemorrhage was defined as a short-term surgery group,the surgery between 7 days and 6 months after hemorrhage was defined as a me-dium-term surgery group,and the surgery beyond 6 months after hemorrhage was defined as a long-term surgery group.The perioperative related indicators among the three groups were compared.Results:This study collected 31 patients who underwent surgical treatment for RAML rupture and hemorrhage,of whom 13 were males and 18 were females,with an average age of(46.2±11.3)years.The short-term surgery group included 7 patients,the medium-term surgery group included 12 patients and the long-term surgery group included 12 patients.In terms of tumor diameter,the patients in the long-term surgery group were significantly lower than those in the recent surgery group[(6.6±2.4)cmvs.(10.0±3.0)cm,P=0.039].In terms of operation time,the long-term surgery group was significantly shorter than the mid-term surgery group[(157.5±56.8)min vs.(254.8±80.1)min,P=0.006],and there was no sig-nificant difference between other groups.In terms of estimated blood loss during surgery,the long-term surgery group was significantly lower than the mid-term surgery group[35(10,100)mL vs.650(300,1 200)mL,P＜0.001],and there was no significant difference between other groups.In terms of intraoperative blood transfusion,the long-term surgery group was significantly lower than the mid-term surgery group[0(0,0)mL vs.200(0,700)mL,P=0.014],and there was no significant difference between other groups.In terms of postoperative hospitalization days,the long-term surgery group was sig-nificantly lower than the mid-term surgery group[5(4,7)d vs.7(6,10)d,P=0.011],and there was no significant difference between other groups.Conclusion:We believe that for patients with RAML rupture and hemorrhage,reoperation for more than 6 months is a relatively safe time range,with minimal intraoperative bleeding.Therefore,it is more recommended to undergo surgical treatment after the hema-toma is systematized through conservative treatment.

Invasive renal angiomyolipoma combined with pseudoaneurysm formation:A case report and literature review / 吉林大学学报(医学版)

Objective:To discuss the distinctive sonographic feature and the biological behavior of renal angiomyolipoma(RAML),and to provide the reference for the clinicians to make the accurate diagnosis of RAML.Methods:The clinical data of one patient with invasive classical RAML combined with pseudaneurysm formation were collected.The sonographic appearances were analyzed in conjunction with the pathological characteristics to clarify the biological behavior of RAML,and the relevant literatures were reviewed.Results:The patient,a 60-year-old female,visited the local hospital due to discomfort in the lumbar area,and received CT examination,and the CT examination results revealed a left renal mass,so the patient came to our hospital.The specialist clinical examinations and laboratory investigations were unremarkable.The ultrasound results indicated an enlarged left kidney with a cystic and solid mass at the upper pole,which featured pseudaneurysm formation(originating from the interlobar arteries);the enhanced CT image results suggested a high probability of upper pole renal carcinoma combined with aneurysmal formation within the tumor,alongside invasion into the left adrenal gland.The patient underwent laparoscopic radical left nephrectomy,and the postoperative pathology confirmed the diagnosis of invasive classical RAML.Conclusion:The classical RAML can exhibit the invasive biological behavior.The pseudaneurysm formation is a special sonographic manifestation of RAML,which can be challenging to differentiate from the other renal tumors.

A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma / 罕见病研究

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body. TSC-associated kidney disease is the leading cause of death in adult TSC patients. This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomyolipoma(RAML)treated with surgery. The patient, 25 years old, was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks. At a regular follow-up in July 2019, imaging examinations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm. Genetic testing showed a loss of heterozygosity in the EX18_ 41 of TSC2. After the diagnosis was confirmed, open left partial nephrectomy was performed, during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm. After the renal artery was occluded, kidney tumors were completely enucleate. Postoperative pathological confirmed the diagnosis of angiomyolipoma. This case provides a reference for the treatment of TSC-related renal giant hamartoma.

The Development and Current Status in the Diagnosis and Management of Tuberous Sclerosis Complex Associated with Renal Angiomyolipoma in China / 罕见病研究

Tuberous sclerosis complex(TSC) is a rare autosomal dominant genetic disorder caused by mutations in the TSC1 or TSC2 genes. The disease can cause multiple organ lesions. The most common renal lesions are renal angiomyolipoma(RAML). In recent years, China has made progresss in the understanding of TSC-RAML, so that the standardization of the diagnosis and management of TSC-RAML have improved. Efforts have been taken in the studies of the pathogenesis and treatment of TSC-RAML. This article reviews the diagnosis, therapy, and research development of TSC-RAML in China.

The Analysis of Clinical Features of 186 Cases of Tuberous Sclerosis Complex-Associated Renal Angiomyolipoma / 罕见病研究

ObjectiveTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease involving multiple organ system. Renal angiomyolipoma (RAML) is a leading cause of death for adult TSC patients. Our study aims at investigating the clinical manifestations of TSC-RAML to enable clinicians to have a better understanding of the disease in Chinese patients.MethodsWe reviewed retrospectively the data collected from patients with TSC-RAML in Peking Union Medical College Hospital from January 2014 to January 2023. We also collected information about the age, gender, imageological examination, RAML stage, and comorbidities.ResultsA total of 186 TSC-RAML patients were registered, 65 of whom were males and 121 were females(male-to-female ratio 1∶1.86). The median age of all patients was 31 years old. Totally, 117 cases (62.9%)of RAML were rated stage 6. Twenty-two cases (11.8%) had a history of tumor rupture and bleeding. Research shows statistical differences between high and low grade on RAML rupture bleeding(P=0.0475). Angiofibromas/fibrous cephalic plaque (155/186, 83.3%), subependymal nodules(103/146, 70.5%), lymphangioleiomyomatosis (102/157, 65.0%), hypomelanotic macules (114/186, 61.3%), and shagreen patch (83/186, 44.6%)were the most common clinical manifestations. All patients with lymphangioleiomyomatosis(LAM) were female(P < 0.0001).ConclusionsFemale patients predominated TSC-RAML patients. Most RAML were in stage 6. About 11.8% cases had a history of tumor rupture and hemorrhage. The higher grade meant the higher proportion of tumor rupture and hemorrhage. Dermatological and nervous lesions were the most common comorbidities. All patients with LAM in this study were female.

Autopsy findings of fatal retroperitoneal hemorrhage after traumatic rupture of bilateral renal angiomyolipoma

ABSTRACT The present work reports the autopsy findings of a unique case characterized by fatal retroperitoneal hemorrhage following the traumatic rupture of bilateral renal angiomyolipomas. Renal angiomyolipomas are generally benign tumors with an unpredictable clinical course, ranging from asymptomatic to sudden rupture and hemorrhagic shock. They may be associated with genetic disorders such as tuberous sclerosis complex. The case under investigation is unprecedented in the medical literature due to its bilateral nature and fatal outcome. Autopsy analysis revealed an extensive retroperitoneal hemorrhage originating from bilateral ruptured tumors. Microscopic examination found features consistent with bilateral renal angiomyolipoma. Circumstantial information identified a traffic accident before the death, considering it as the cause of the tumors' traumatic rupture. In this case, due to the severity of the situation, immediate medical measures—such as fluid resuscitation, coagulopathy correction, and surgical treatment, which are usually lifesaving—could not be performed. This led to the patient being declared dead at the scene of the crash.

Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease / Tratamento endovascular de sangramentos e angiomiolipomas de aneurismas intrarrenais em um paciente com esclerose tuberosa e doença renal policística

Abstract Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are conditions related to renal failure that can rarely occur in association as a contiguous gene syndrome. Angiomyolipomas (AMLs) are renal tumors strongly related to TSC that may rupture and cause life-threatening bleedings. We present a patient with TSC, ADPKD, and renal AMLs with persistent hematuria requiring blood transfusion. The persistent hematuria was successfully treated through endovascular embolization, a minimally invasive nephron sparing technique.

Resumo O complexo de esclerose tuberosa (CET) e a doença renal policística autossômica dominante (DRPAD) são condições relacionadas à insuficiência renal que raramente podem ocorrer em associação como uma síndrome do gene contíguo. Angiomiolipomas (AMLs) são tumores renais fortemente relacionados ao CET que podem romper-se e causar hemorragias com risco de vida. Apresentamos um paciente com CET, DRPAD e AMLs renais com hematúria persistente que requer transfusão sanguínea. A hematúria persistente foi tratada com sucesso por meio de embolização endovascular, uma técnica de preservação do néfron minimamente invasiva.

Effects of preoperative mTOR inhibitors on partial nephrectomy for renal angiomyolipoma associated with tuberous sclerosis complex / 中华泌尿外科杂志

Objective:To investigate the effects of preoperative mammalian target of rapamycin(mTOR )inhibitor on partial nephrectomy for renal angiomyolipoma associated with tuberous sclerosis complex (TSC-RAML).Methods:A retrospective analysis was conducted on clinical data from 13 patients who were diagnosed with TSC-RAML and treated at Peking Union Medical College Hospital between August 2019 and July 2022. This cohort included 4 males and 9 females, with ages ranging from 22 to 66 years. All patients underwent partial nephrectomy, with 2 patients requiring two-stage surgeries due to bilateral RAMLs, resulting in a total of 15 surgeries being performed. Preoperative mTOR inhibitors, specifically everolimus (10 mg/d) or sirolimus (2 mg/d), were administered orally for at least 3 months prior to 7 of the surgeries. The effects of mTOR inhibitors on tumor size, tumor computed tomography attenuation value (CT value), and tumor CT enhancement were evaluated. The comparison of surgery-related clinical parameters was conducted between patients who received preoperative mTOR inhibitors and those who did not to assess the influences of mTOR inhibitors on surgery.Results:Compared to the baseline tumor, there was a significant reduction in tumor diameter after mTOR treatment [(6.4±3.1) cm vs. (8.7±3.9)cm], as well as in the CT value in both the unenhanced phase[(-18.63±48.73)HU vs. (-2.13±51.58)HU] and corticomedullary phase[(13.25±64.01)HU vs. (47.25±66.99)HU]. Additionally, tumor CT enhancement also decreased as compared with that before treatment [(31.88±18.20)HU vs. (49.38±20.63)HU]. Patients who received preoperative mTOR inhibitor showed a trend towards shorter operative time for removing per milliliter of tumor compared to those without preoperative mTOR inhibitor [1.06(0.18, 2.40) min/ml vs. 1.98(0.39, 5.03) min/ml] and so was the renal artery clamping time [0.17(0.03, 0.79) min/ml vs. 0.34(0.10, 1.71) min/ml]. Additionally, the amount of intraoperative bleeding for removing per milliliter of tumor was lower in patients with preoperative mTOR inhibitors compared to those without [0.72(0.19, 0.88) ml/ml vs. 1.69(0.59, 4.54) ml/ml].Conclusions:The administration of mTOR inhibitors before partial nephrectomy in patients with TSC-RAM have the potential to reduce tumor size and blood supply, as well as operative time, renal artery clamping time and intraoperative bleeding, which might contribute to surgery safety and preservation of renal function.

The predictive effect of adjusted Utrecht staging criteria on efficacy of mTOR inhibitors in TSC-AML patients / 中华泌尿外科杂志

Objective:To investigate the predictive effect of adjusted Utrecht staging criteria on efficacy of mammalian target of rapamycin (mTOR) inhibitors in patients with tuberous sclerosis-associated renal angiomyolipoma (TSC-AML).Methods:In this study, 39 adult patients with TSC-AML who attended the Peking Union Medical College Hospital from December, 2014 to December, 2020 were retrospectively analyzed, and were divided into 4 groups based on Utrecht staging criteria: Group 1, Utrecht staging ≤ stage 5, all AMLs <5 cm( n=6); Group 2, stage 6 with at least one AML ≥5 cm and normal renal anatomy( n=14); Group 3, stage 6 with at least one AML ≥5 cm and recognizable renal anatomy( n=10); Group 4, stage with at least one AML ≥5 cm and unrecognizable renal anatomy ( n=9). The mean age of patients in the 4 groups were 27.33±7.84, 28.64±12.36, 31.10±5.88 and 29.11±7.15 ( P=0.869). No statistic difference in gender was found among the different groups ( P=0.233). The mean maximum diameters of AML in the four groups were (3.54±0.52)cm, (8.11±2.08)cm, (11.58±4.60)cm and (17.08±3.61)cm, respectively( P<0.01). The mean levels of creatinine were (80.17±16.01)μmol/L, (76.36±18.72)μmol/L, (76.10±27.61)μmol/L and (71.89±18.66)μmol/L in the four groups( P=0.900). The numbers of patients with positive urine protein were 2, 3, 8 and 2 ( P=0.023). All the patients took Everolimus 10mg orally per day for at least 3 months. Differences in maximum AML shrinkage rate, creatinine level, severity of urine protein and microscopic hematuria were compared between the groups. Results:As AML severity increased, the shrinkage rates decreased significantly in turn [Group 1: (76.06±13.16)%, Group 2: (64.92±16.33)%, Group 3: (55.30±20.49)%, Group 4: (43.73±20.61)%, P=0.009]. After treatment, creatinine levels increased in all groups[Group 1: (8.50±7.61)μmol/L, Group 2: (5.71±8.54)μmol/L, Group 3: (7.70±7.18)μmol/L, Group 4: (6.11±7.04)μmol/L], but there was no significant difference among groups (P=0.856). Moreover the increase in urine protein worsened with the degree of severity (Group 1∶3, Group 2∶4, Group 3∶6, Group 4∶9, P=0.014). Conclusions:The adjusted Utrecht staging criteria could predict the maximum AML shrinkage rate and urine protein increase in TSC-AML patients with treatment of mTOR inhibitors.

Endovascular management of bilateral renal angiomyolipoma in a perimenopausal woman / Manejo endovascular de angiomiolipoma renal bilateral em uma mulher na perimenopausa

Abstract Renal angiomyolipoma is a benign and progressive tumor consisting of smooth muscle, fat, and vascular elements and is commonly associated with the tuberous sclerosis complex. Bilateral occurrence is rare and recent evidence suggest strong tumor positivity to female hormones with enlargement during pregnancy and oral contraceptive therapy. Treatment varies from a minimally invasive approach with selective embolization of the renal artery to partial nephrectomy or sometimes even radical nephrectomy. Presented here is a case of bilateral renal angiomyolipoma in 50-year-old lady who was successfully treated with super-selective embolization.

Resumo O angiomiolipoma renal é um tumor benigno e progressivo composto por músculo liso, gordura e elementos vasculares, comumente associado ao complexo da esclerose tuberosa. Sua ocorrência bilateral é rara, e evidências recentes sugerem forte positividade do tumor para hormônios femininos, com aumento do tamanho durante a gravidez e uso de contraceptivos orais. O tratamento varia desde uma abordagem minimamente invasiva de embolização seletiva da artéria renal até nefrectomia parcial ou, às vezes, nefrectomia radical. Apresentamos um caso de angiomiolipoma renal bilateral em uma mulher de 50 anos que passou por tratamento bem-sucedido com embolização superseletiva.

Angiomiolipoma hepático epitelioide: reporte de un caso / Hepatic epithelioid angiomyolipoma: Case Report

Angiomyolipomas (AML) are mesenchymal tumors belonging to the group of perivascular epithelioid cell tumors, which, rarely, can display a malignant behavior. They are composed of adipose tissue, vessels, and muscle tissue in different proportions, and constitute a differential diagnosis for other focal liver lesions. We report a 34-year-old woman in whom a focal hepatic lesion was discovered incidentally. The pathology report of an ultrasound guided biopsy informed an epithelioid angiomyolipoma, a rare variant of these lesions. During ten years of imaging follow, the size and features of the lesion has not changed. The patient rejected a surgical excision.

Investigation of MRI features with renal angiomyolipoma smaller than 4 cm / 中华放射学杂志

Objective:To analyze the MRI characteristics of surgical resected renal angiomyolipoma (AML) smaller than 4 cm.Methods:A total of 112 patients with surgical pathology confirmed renal AML of which the maximum diameter was smaller than 4 cm were analyzed retrospectively in the First Medical Centre, Chinese PLA General Hospital from January 2014 to November 2020, 5 of which were epithelioid angiomyolipoma (EAML) patients. According to the presence or absence of visible fat in lesions on MRI, the lesions were divided into AML with fat group and AML without visible fat (AML wovf) group. The MRI features were evaluated, including maximum diameter, location, growth pattern, shape, beak sign, angular interface with renal parenchyma, pseudo-capsule, hemorrhage, cystic degeneration, coagulative necrosis, flowing void in the tumor, signal intensity and homogeneity on T 2WI and diffusion weighter imaging (DWI), the peak enhanced phase. The differences of maximum diameter of AML with fat and AML wovf were analyzed using Mann-Whitney U test, and the differences of MRI features were analyzed using χ 2 test or Fisher′s exact probability test. Results:There were 123 lesions found in 112 patients, and 96 lesions contained fat and 27 lesions were AML wovf. 82 lesions showed round and round-like shapes, 112 lesions showed exophytic growth pattern, 71 lesions with peak enhancement in corticomedullary phase. And the numbers of lesions with angular interface with renal parenchyma, beak sign, cystic degeneration, pseudo-capsule, hemorrhage were 30, 49, 1, 1, 1, respectively. There was no coagulative necrosis in all lesions. Compared with AML with fat, AML wovf was single lesion. The diameters of AML with fat and AML wovf were 2.5 (1.7, 3.5) and 1.8 (1.4, 2.3) cm respectively, with statistically significant difference ( Z=-2.80, P=0.005). In the AML with fat and AML wovf, 65 and 12 cases were heterogeneous in T 2WI, 44 and 5 lesions showed beak sign, 26 and 4 lesions showed angular interface with renal parenchyma, 57 and 10 cases were heterogeneous in DWI. And there were 5 and 6 lesions showed the endophytic, 44 and 8 lesions showed partly exophytic, 47 and 13 lesions showed exophytic in patterns of tumor growth respectively. The beak sign, homogeneous in T 2WI and DWI, patterns of tumor growth showed statistical differences in AML with fat and AML wovf (all P<0.05), and there was no significant difference in other features ( P>0.05). A total of 5 EAML patients were with 8 lesions. One patient had 4 lesions with fat, other patients had single lesion in which 2 lesions with fat, 2 lesions without visible fat. One lesion without visible fat showed hemorrhage. Conclusions:Surgical resected AML smaller than 4 cm is often exophytic round and round-like, enhanced in corticomedullary phase, showing angular interface with renal parenchyma and beak sign, with rare cystic degeneration, pseudo-capsule, hemorrhage and improbable coagulation necrosis. AML wovf is single smaller lesion which often shows endophytic growth pattern, and beak sign is infrequent. EAML seems to be present in two modes, multiple lesions with fat and AML wovf with hemorrhage.

Efficacy comparison of robot-assisted partial nephrectomy and laparoscopic partial nephrectomy in the treatment of giant renal angiomyolipoma / 中华泌尿外科杂志

Objective:To evaluate the efficacy of robot-assisted partial nephrectomy (RAPN)and laparoscopic partial nephrectomy(LPN)in the treatment of giant (>7cm) renal angiomyolipoma (RAML).Methods:The clinical data of 43 patients with giant RAML(>7cm) who underwent surgery in Zhejiang People's Hospital from October 2014 to May 2020 was retrospectively analysed, including 23 routine RAPN and 20 routine LPN. The median age of patients in the RAPN group was 45(17-65) years old, with 4 males and 19 females.The median body mass index(BMI) was 20.3(18.0-25.7) kg/m 2. Tumors located on the left side in 11 cases and on the right side in 12 cases. Tumors located on upper pole in 9 cases, middle pole in 5 cases , lower pole in 5 cases. The median R. E.N.A.L. score was 8(4-12) points and the largest tumor diameter was 7.5(7.1-17.0) cm. The median age of patients in the LPN group was 53(27-78) years old, with 1 males and 19 females. The median BMI was 21.4(19.0-25.5) kg/m 2. Tumors located on the left side in 9 cases and right side in 11 cases. Tumors located on the upper pole in 7 cases, middle pole in 4 cases and lower pole in 5 cases. 4 cases were multiple tumors, 2 cases were bilateral, and 2 cases were unilateral. The median R. E.N.A.L. score was 8(4-12) points and the median maximum diameter of tumor was 7.3(7.0-20.0) cm. There was no statistically significant difference in general information between the two groups ( P>0.05). The operation time, warm ischemia time, intraoperative blood loss, postoperative complications, postoperative recovery, renal function and other indicators of the two groups were compared, as well as the follow-up results. Results:The operations in both groups were successfully completed, and none of them were transferred to open surgery. Patients in the RAPN group had markedly lower median operation time [115(90-220) vs.145(120-240) min], and reduced median time of warm ischemia [15(10-25) vs. 23(20-28) min] than those in the LPN group, the difference between the two groups was statistically significant ( P<0.05). There were no significant differences in the median time of eating [1(1-2) vs. 1(1-3)d], time of extubation [4(3-16) vs. 5(3-14)d], postoperative absolute time in bed [4(3-7) vs. 4(2-12)d], hospitalization time [7(5-16) vs. 8(4-14)d], creatinine change[11.3(1.6-44.8) vs. 18.2(1.0-54.8)μmol/L], eGFR change [21.5(1.8-43.5) vs. 22.1(5.6-51.3) ml/(min·1.73m 2)], and hemoglobin change[22.5(11-43) vs. 23.0 (9-62) g/L] between the two groups( P>0.05). The incidence of postoperative complications in the RAPN group and the LPN group were 0 and 15%(3/20), respectively, and the difference was statistically significant ( P<0.05). 3 patients had blood transfusion during the operation, because 2 patients had renal wound hemorrhage. During the operation, ultrasonic scalpel electrocoagulation to halt bleeding and hemostatic cotton padding were performed, which improved after suture. One case had active hemorrhage from the renal wound arteries after surgery, which improved after blood transfusion and embolization. Another 2 patients had postoperative fever, improved after anti-infection and antipyretic treatment. There was no leakage of urine after operation in RAPN group and LPN group. The RAPN group was followed up for 6 months to 45 months with a median time of 12 months, and the LPN group was 8 months to 50 months with a median time of 15 months. No tumor recurrence or delayed renal stump bleeding was identified. Conclusions:Compared with LPN, RAPN therapy of giant RAML can shorten the operation time and warm ischemia time, and decrease postoperative complications, the two have similar short-term follow-up results in terms of tumor control and renal function protection.

Clinical characteristics of rare adrenal angiomyolipoma / 中华泌尿外科杂志

Objective:To analyze the clinical characteristics of rare adrenal angiomyolipoma.Methods:Clinical data of 5 patients with adrenal angiomyolipoma admitted to West China Hospital of Sichuan University from April 2009 to April 2019 were retrospectively analyzed. There were 2 males and 3 females. Age ranged from 40 to 57 years old, with an average of 46.7(40-57) years old. Clinical manifestations included right upper abdominal mass in 1 case, pain in the lower back in 1 case, and no significant symptoms were found in the rest. One patient was complicated with hypertension, one patient was complicated with decreased activities of epinephrine, norepinephrine and renin activity (orthosis), and the other patients had no abnormal hormones. 2 patients underwent abdominal ultrasound with " strong echo mass in adrenal area" , and all underwent enhanced abdominal CT with " space occupying lesion in adrenal area" , which was specifically manifested as tumors with mixed density in fat, blood vessels, muscle and so on. The average tumor diameter was 5.8(2.3-9.1) cm, including 2 cases on the left, 3 cases on the right, and 1 case with renal angiomyolipoma. All patients underwent laparoscopic adrenal tumor resection.Results:All the 5 patients underwent surgical resection successfully and were diagnosed as adrenal angiomyolipoma by pathological examination of tumor specimens after surgery. There was no significant change in blood pressure level of patients with hypertension after surgery. Follow-up time was 2-7 years and no recurrence.Conclusions:Adrenal angiomyolipoma is an extremely rare benign nonfunctional disease, which is more common in middle age. Most of the patients had no clinical history and signs. The tumor has no hormone secretion function and can be basically diagnosed with CT and other imaging examinations. The final diagnosis depends on pathological examination. After operation, the prognosis of adrenal angiomyolipoma is good.

Renal angiomyolipoma with inferior vena cava and right atrial embolism: A case report and literature review / 中南大学学报(医学版)

Renal angiomyolipoma (AML) with renal vein, inferior vena cava (IVC), and right atrial embolism is a rare solid tumor, whose etiology and pathogenesis are still unclear. Moreover, it is often misdiagnosed. One patient with renal AML complicated with renal vein, IVC, and right atrial embolism was admitted to the Second Xiangya Hospital of Central South University, who was a 35-year-old female, without any previous medical history, presented with right low back pain for more than 3 years. Computed tomography (CT) scan showed irregular lobulated fatty density mass in the right kidney, renal vein, IVC, and right atrium. The contrast-enhanced scan showed no enhancement of fat components at each phase and mild enhancement of solid components. Radical resection of the right kidney and removal of tumor thrombus were performed, and there was no recurrence 1 year after the operation. It is rare for renal AML to grow along the renal vein, IVC, and extend to the right atrium. Imaging examination is extremely important, and the CT findings of this case are characteristic, but the diagnosis eventually depends on pathological and immunohistochemical examinations.