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.

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.

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.

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.

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.

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.

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.

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.

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.

Sporadic Renal Angiomyolipoma: Can We Adopt a Uniform Management Protocol / Angiomiolipoma renal esporádico: ¿Podemos adoptar un protocolo de tratamiento estándar?

Renal angiomyolipomas (AMLs), formerly known as PEComas (tumors showing perivascular epithelioid cell differentiation) are common benign renal masses composed of a varying ratio of fat, blood vessels, and smooth muscles. They are largely asymptomatic and diagnosed incidentally on imaging. The adipose tissue content is the factor that gives AMLs their characteristic appearance on imaging and makes them easily identifiable. However, the fat-poor or fat-invisible varieties, which are difficult to differentiate radiologically from renal cell carcinomas (RCCs), present a diagnostic challenge. It is thus essential to establish the diagnosis and identify the atypical and hereditary cases as they require more intense surveillance and management due to their potential for malignant transformation. Multiple management options are available, ranging from conservative approach to embolization and to the more radical option of nephrectomy. While the indications for intervention are relatively clear and aimed at a rather small cohort, the protocol for follow-up of the remainder of the cohort forming the majority of cases is not well established. The surveillance and discharge policies therefore vary between institutions and even between individual practitioners. We have reviewed the literature to establish an optimum management pathway focusing on the typical AMLs.

Los angiomiolipomas renales (AML), antes conocidos como PEComas (tumores que muestran epitelioides perivasculares) son masas renales benignas frecuentes compuestas por una proporción variable de grasa, vasos sanguíneos y músculos lisos. Suelen ser asintomáticos y se diagnostican de forma incidental en las pruebas de imagen. El contenido de tejido adiposo es el factor que confiere a los AML su aspecto característico en las imágenes y los hace fácilmente identificables. Sin embargo, las variedades pobres en grasa o invisibles, que son difíciles de diferenciar radiológicamente de los carcinomas de células renales (CCR), suponen un reto diagnóstico. Por lo tanto, es esencial establecer el diagnóstico e identificar los casos atípicos y hereditarios, ya que requieren una vigilancia y un tratamiento más intensos debido a su potencial de malignización. debido a su potencial de transformación maligna. Existen múltiples opciones de tratamiento, que van desde el enfoque conservador hasta la embolización y la opción más radical de la nefrectomía. Si bien las indicaciones para la intervención son relativamente claras y están dirigidas a una cohorte bastante pequeña, el protocolo para el seguimiento del resto de la cohorte que forma la mayoría de los casos no está bien establecido. Por lo tanto, las políticas de vigilancia y alta varían entre instituciones e incluso entre profesionales individuales. Hemos revisado la literatura para establecer una ruta de manejo óptima centrada en los AML típicos.

Angiomiolipoma nasal: reporte de dos casos y revisión de la literatura

Resumen El angiomiolipoma es una lesión hamartomatosa, habitualmente de localización renal asociado a esclerosis tuberosa. La ubicación nasosinusal es extremadamente infrecuente y se puede presentar con obstrucción nasal y epistaxis. Se presentan dos casos de angiomiolipoma de cavidad nasal diagnosticados en el Hospital Carlos Van Buren de Valparaíso. Ambos casos se presentaron como masa nasal unilateral, se estudiaron con tomografía computada y fueron tratados con biopsia escisional, sin presentar recidivas durante su seguimiento. El anigiomiolipoma está compuesto por vasos sanguíneos, músculo liso y adipocitos. Existen diferencias entre el angiomiolipoma del riñón versus el de piel, cavidad oral y nasal (angiomiolipomas mucocutáneos); estos últimos son extremadamente infrecuentes, de menor tamaño, con presencia de agregados linfoides, negativos para antígeno específico de melanoma HMB-45 y sin asociación a esclerosis tuberosa. Existen pocos casos reportados en la literatura de esta patología, por lo que existe poca evidencia. Clínicamente, se presentan con obstrucción nasal, epistaxis recurrente, sensación de masa nasal. El estudio preoperatorio depende de su extensión y puede incluir una tomografía computada y/o angiografía para identificar su irrigación. El diagnóstico definitivo es anatomopatológico. Si se logra la escisión completa, no se han reportado recidivas, por lo que presenta un excelente pronóstico.

Abstract Angiomyolipoma is a hamartomatous lesion, usually of a renal location associated with tuberous sclerosis. Nasosinusal location is extremely rare and can present with nasal obstruction and epistaxis. Two cases of angiomyolipoma of the nasal cavity diagnosed at the Carlos Van Buren Hospital in Valparaíso are presented. Both cases presented as a unilateral nasal mass, and were studied with computed tomography, and treated with an excisional biopsy, with no recurrences during follow-up. Anigiomyolipoma is composed of blood vessels, smooth muscle and adipocytes. There are differences between angiomyolipoma of the kidney versus skin, oral and nasal cavity (mucocutaneous angiomyolipomas). The latter are extremely infrequent, smaller in size, with the presence of lymphoid aggregates, negative for the HMB-45 specific melanoma antigen and without association with tuberous sclerosis. There are few cases reported in the literature of this pathology, so there is little evidence. Clinically, they present with nasal obstruction, recurrent epistaxis, sensation of nasal mass. The preoperative study depends on its extension and may include a computed tomography and/or angiography to identify its irrigation. The definitive diagnosis is pathological. If complete excision is achieved, no recurrences have been reported, so it has an excellent prognosis.

Misleading Presentation of a Ruptured Renal Angiomyolipoma

@#We report a case of a 37-year-old pregnant lady at 27 weeks of gestation presented with contraction pain mimicking abruptio placenta. She developed hypovolemic shock six hours following hospital admission. Subsequent emergency caesarian section revealed a viable fetus with retroperitoneal hematoma but no evidence of placenta abruption. Post-operative abdominal CT angiography demonstrated a ruptured and bleeding left renal mass with fatty component consistent with renal angiomyolipoma. In view of the patient’s clinical condition who was persistently critical, an emergency left nephrectomy was proceeded which confirmed the diagnosis of a ruptured left renal angiomyolipoma intraoperatively and histologically

Expression profile of circRNA and construction of ceRNA regulatory network in tuberous sclerosis related renal angiomyolipoma (TSC-RAML) / 中华泌尿外科杂志

Objective:To comprehensively analyze the expression profile of circular RNA (circRNA) and construct competing endogenous RNA (ceRNA) regulatory networks in tuberous sclerosis complex related renal angiomyolipoma (TSC-RAML).Methods:According to the diagnostic criteria of TSC determined by the international consensus group on tuberous sclerosis in 2012, tumor tissues and paired normal renal tissues of 3 patients with TSC-RAML who were diagnosed in our hospital from January 2017 to January 2019 were collected. The circRNA, miRNA and mRNA of 3 paired samples were detected by circRNA, miRNA chip technology and next generation sequencing respectively, and the differential molecules were determined. Gene Ontology(GO) functional enrichment analysis and Kyoto Encyclopedia of genes and genomes(KEGG) pathway enrichment analysis were performed based on differential mRNA molecules and host genes of circRNA. Based on differential circRNA, miRNA and mRNA, up-regulated and down-regulated ceRNA regulatory networks were established.Results:A total of 330 up-regulated and 336 down-regulated differential circRNA, 8 up-regulated and 7 down-regulated miRNA, 800 up-regulated and 1130 down-regulated mRNA were screened. Through GO and KEGG enrichment analysis, many pathways including lipid metabolism, focal adhesion and mineral absorption were abnormally altered. Finally, the up-regualted ceRNA network led by hsa_circ_0092022, hsa_circ_0076859 and hsa_circ_0033388 and down-regulated network led by hsa_circ_0000374, hsa_circ_0000141, hsa_circ_0072665, hsa_circ_0009503 and hsa_circ_0000009 were constructed.Conclusions:There were many differentially expressed circRNA between TSC-RAML and paired normal renal tissues. ceRNA regulatory networks may be involved in the occurrence and development of TSC-RAML.

Ressecção laparoscópica de tumores benignos do fígado: posição atual / Laparoscopic liver resection for benign tumors: the current position

RESUMO - RACIONAL: As principais indicações das hepatectomias video-laparoscópicas (HVL), inicialmente, eram nas lesões hepáticas benignas. À medida que a HVL se tornou mais popular, as indicações de doenças malignas superaram as de doenças benignas. Este estudo teve como objetivo discutir as indicações e resultados da HVL para o tratamento de tumores hepáticos benignos. MÉTODOS: De 445 HVL realizadas em um único centro, 100 (22,4%) foram para tumores benignos. Os autores discutem as indicações para ressecção e apresentam seus resultados perioperatórios. RESULTADOS: No total, 100 pacientes com tumores benignos foram avaliados, a saber: 66 casos de adenomas hepatocelulares; 14 de neoplasia mucinosa biliar; 13 de hiperplasia nodular focal; 4 de angiomiolipomas; e 3 de hemangiomas. O tamanho médio das lesões foi de 7,6 cm (3,1 a 19,6 cm). A taxa de morbidade total foi de 19%, sendo 9% classificados como Clavien-Dindo 3 ou 4 e não foi observada mortalidade. CONCLUSÃO: A HVL para tumores hepáticos benignos é segura e apresenta excelentes resultados. No entanto, as indicações para cirurgia são cada vez mais restritas, não sendo recomendável indicar a ressecção somente por se tratar de procedimento minimamente invasivo.

ABSTRACT - BACKGROUND: The main indications of the use of laparoscopic liver surgery (LLS), in the early days, were benign liver lesions. As LLS became more popular, indications for malignant diseases outnumbered those for benign ones. This study aims to rule out the indications and results of LLS for the treatment of benign liver tumors. METHODS: Out of 445 LLS performed in a single center, 100 (22.4%) were for benign tumors. The authors discuss the indications for resection and present their perioperative results. RESULTS: In total, 100 patients with benign tumors were evaluated. Specifically, these were as follows: 66 cases of hepatocellular adenomas; 14 cases of biliary mucinous neoplasm; 13 cases of focal nodular hyperplasia; 4 cases of angiomyolipomas; and 3 cases of hemangiomas with a mean size of 7.6 cm (ranging from 3.1 to 19.6 cm). The total morbidity rate was 19%, with 9% classified as Clavien-Dindo grades 3 or 4. No mortality was observed. CONCLUSION: LLS for benign liver tumors is safe and presents excellent results. However, indications for resection are increasingly restricted and should not be performed just because it is a minimally invasive procedure.

Renal angiomyolipoma with epithelial cyst

Angiomyolipoma with epithelial cysts (AMLEC) is a recently described entity and is an uncommon subtype of kidney angiomyolipomas. AMLEC is a benign entity but usually masquerades a renal cell carcinoma on imaging examination. AMLEC has a distinct histological and immunohistochemical staining pattern, which helps in the pathological diagnosis. We present a rare case of AMLEC in a 26-year-old female, which was provisionally diagnosed as renal cell carcinoma on radiology. We also summarize the differential diagnosis of this rare variant, its characteristic features, and a review of the literature.

Monotypic angiomyolipoma of the nasal cavity: An extremely rare cause of nasal mass with recurrent epistaxis

Monotypic angiomyolipoma is usually found in the kidneys and is composed predominantly of epithelioid cells which show positivity for melanocyte and smooth muscle markers. It can pose a diagnostic challenge due to a range of differential diagnosis. We report the second case of monotypic angiomyolipoma of nasal cavity and first from India in a 54-year-old male who presented with a nasal polyp. Grossly the tumor was well circumscribed and un-encapsulated. Microscopy showed a large number of epithelioid cells mixed with a few spindle cells, varying sized blood vessels, and focal areas of adipose tissue. Immunohistochemistry was positive for smooth muscle actin (SMA) and human melanoma black (HMB-45) stains. It is important to identify this tumor as it can sometimes be mistaken for malignancy and only needs endoscopic resection.

Extrarenal angiomyolipoma in uterine cervix: rare presentation in unusual site

Angiomyolipoma is a benign neoplasm composed of variable admixture of blood vessels, smooth muscle cells and adipose tissue. Cervical angiomyolipoma are extremely rare and to the best of our knowledge only five cases of angiomyolipoma in cervix have been reported in the literature till date. Authors are presenting a case of angiomyolipoma arising from the uterine cervix. 43 years old female presented with mass descending per vagina for 6 months. This case had no association with tuberous sclerosis. Microscopic examination showed an ill-defined polypoidal, non-encapsulated lesion covered by keratinized stratified epithelium. The lesion is made up of three components, predominantly by fascicles of spindle shaped cells, varying sized blood vessels and multiple foci of mature adipocytes with no evidence of atypia or increased mitotic activity. Smooth muscle component showed strong immunoreactivity to SMA and absence of elastic fibres in the blood vessels were confirmed by histochemistry. Non-vascular smooth muscle cells were negative for HMB-45 in contrast to renal and other extra-renal angiomyolipoma in which HMB-45 immunoreactivity in seen in these cells. To conclude, the differential diagnosis of lower abdominal mass and dysfunctional uterine bleeding should include the angiomyolipoma, even though the uterine cervix is an extremely rare location where they occur.

CT-based radiomics model for differential diagnosis of fat-poor renal angiomyolipoma and homogeneous-density clear cell renal cell carcinoma / 中国医学影像技术

Objective: To observe the value of enhanced CT-based radiomics nomogram incorporated with radiomics signatures and clinical factors in differential diagnosis of fat-poor angiomyolipoma (fp-AML) and homogeneous density clear cell renal cell carcinoma (hd-ccRCC) before surgical operation. Methods: Data of 71 patients with fp-AML (fp-AML group, n=32) and hd-ccRCC (hd-ccRCC group,n=39) proved by pathology were retrospectively collected. Three-dimensional ROI were contoured manually at cortical, nephrographic and excretory phase images (CP, NP and EP), and the radiomics features were extracted. Then inter- and intra- class correlation coefficients (ICC) were used to exclude the inter-observer and intra-observer difference of ROI feature extraction. The LASSO regression method was used to select radiomics features. A regression formula was constructed by multivariate Logistic regression analysis. Radiomics scores of CP, NP, EP and all 3 phases were calculated. A combined radiomics nomogram was developed by incorporating clinical factors and radiomics score using Logistic multivariate regression model. The Hosmer-Lemeshow test was performed to assess the goodness-of-fit of the nomogram. The calibration of the nomogram was assessed with calibration curves. The differential effectiveness of the radiomics nomogram was evaluated on the basis of ROC curves. The decision curve was performed to evaluate the net benefits of the nomogram for differentiating fp-AML from hd-ccRCC. Results: Totally 1 029 features including intensity, shape, texture and wavelet features were extracted from all phases. Radiomics features with ICC greater than 0.75 were enrolled into the LASSO regression model. Totally 6, 6, 5 and 7 optimal features extracted from cortical, nephrographic and excretory phases and all 3 phases were selected, and AUC was 0.83 (95%CI[0.73,0.92]), 0.80 (95%CI[0.70,0.91] ), 0.78 (95%CI[0.68,0.89] ) and 0.86 (95%CI[0.77,0.95] ), respectively. AUC of the nomogram based on radiomics score of all 3 phases and clinical factors was 0.90 (95%CI[0.81,0.99]), and decision curve indicated that this radiomics nomogram had a satisfactory overall net benefit for differentiating fp-AML from hd-ccRCC before surgical operation. Conclusion: CT-based radiomics nomogram, which incorporates the radiomics signatures and clinical factors, shows favorable predictive value for differentiating fp-AML from hd-ccRCC, which might be helpful to accurate diagnosis before surgical operation.