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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.

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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.

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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.

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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.

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.

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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.

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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.

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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.

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In this comment, we highlight the diagnosis of Birt-Hogg-Dubé (BHD) in a 60-year-old man was made from identification and removal of normochromic papular cutaneous lesions whose histological examination indicated trichodyscomas and which are considered equivalent to fibrofolliculomas, presence of bilateral renal mass suggestive of angiomyolipomas by imaging exams. A benign/likely benign variant of FLCN in the intron 13 was also detected. Still, his previous pathological history presented other relevant data such as the prior removal of vocal cord angioma, total thyroidectomy, and left parotidectomy due to a cystic lesion whose histopathological examination revealed the presence of oncocytoma and lipomatosis, in addition to basal cell cutaneous carcinoma. Simultaneous gastrointestinal hyperplastic polyposis was found in this patient. The case we reported does not have the genotypic and phenotypic expressions most present in BHDS. These facts make it important for readers to know the clinical and genetic presentation facets of this unusual syndrome.

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Treatment of renal angiomyolipoma (AML) seeks to reduce related complications and preserve kidney function. The purpose of this article was to perform an updated literature review on the diagnosis, therapeutic options, and criteria for invasive intervention in patients with renal AML. Computerized tomography is the standard diagnostic method for renal AML, while definitive diagnosis is made by histopathology. The management of choice in most cases is active surveillance (AS), with a clinical and imaging follow-up protocol. In high-risk cases, therapeutic management should be considered, with alternatives such as selective arterial embolization (SAE), nephron-sparing surgery (NSS), and mTOR inhibitors in selected patients. Renal AML in women of childbearing age, those with growth >0.25 cm/year, intralesional aneurysms >5 mm, and clinically significant symptoms may qualify for active treatment. Despite the limitations derived from the available evidence, it is possible to consider SAE, NSS, and the use of mTOR inhibitors as management alternatives for selected patients.

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Cutaneous angiomyolipoma is a rare mesenchymal tumor that is demographically, clinically, and immunohistochemically distinct from its renal and extrarenal counterparts. We present a case of cutaneous angiomyolipoma in the right retroauricular area of a 35-year-old male patient and provide a broad systematic review of the literature and the largest compilation of cutaneous angiomyolipomas reported to date. According to the findings presented in this review, we conclude that cutaneous angiomyolipoma should be completely separated from renal and extrarenal angiomyolipomas and therefore be considered a distinct entity in the classification of skin tumors.

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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.

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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.

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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.

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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.

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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.

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Angiomyolipoma is a benign mesenchymal neoplasm of the renal parenchyma, accounting for 1% of all renal parenchymal tumors. However, this entity may rarely occur in extrarenal sites. Extrarenal angiomyolipoma has been documented in various sites of the body, but angiomyolipoma of the broad ligament was reported in only two cases. We report the reputed third case of angiomyolipoma of the broad ligament in a 33-year-old female, who presented clinically with abdominal distension. With a working diagnosis of low-grade neoplasm, an en-bloc excision of the left broad ligament mass was performed. Based on histopathology and immunohistochemistry, a diagnosis of the classical variant of angiomyolipoma of the left broad ligament was made. The post-operative period was uneventful with no recurrence after 6 months of follow-up.

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Epithelioid angiomyolipoma is an uncommon subtype of renal angiomyolipoma associated with potentially malignant behavior and is considered a distinct entity by the World Health Organization classification of renal tumors. We present a case of an epithelioid variant of angiomyolipoma with extension into the renal vein, inferior vena cava reaching up to the right atrium. Pre-operatively, a diagnosis of renal cell carcinoma was considered based on imaging findings. Intra-operatively due to extensive adhesions, surgical resection was not performed and only tissue sampling was performed for histopathology. Microscopic examination revealed short fascicles of spindle cells and perivascular epithelioid cells. A differential diagnosis of renal cell carcinoma with sarcomatoid differentiation was considered. The immunohistochemical profile showed tumor cells that express Melan-A and smooth muscle actin, while they were negative for pan-cytokeratin, PAX8, CK7, CD117 and CD34. Therefore a diagnosis of epithelioid angiomyolipoma was rendered. The presence of intravascular thrombi on radiological investigation and carcinoma-like growth pattern on light microscopy may compound an erroneous diagnosis of renal cell carcinoma. Hence, it is prudent for the urologist to consider differential diagnosis other than renal cell carcinoma when confronted with a renal neoplasm presenting with intravascular thrombi. In these cases, a core biopsy should be planned pre-operatively and diagnosis should be made with aid of appropriate immunohistochemical markers.

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El angiomiolipoma hepático es un tumor mesenquimatoso infrecuente perteneciente al grupo de los PEComas (Perivascular Epithelioid Cells), que cuenta con un potencial maligno indeterminado. Los síntomas clínicos son inespecíficos, siendo las características radiológicas principales la alta vascularización de la lesión y la presencia de tejido adiposo macroscópico. Presentamos un caso clínico de un angiomiolipoma hepático izquierdo diagnosticado por tomografía computada de manera incidental y asintomático en una paciente sin antecedentes de importancia que se sometió a hepatectomía lateral izquierda con resección completa del tumor, el cual fue negativo para malignidad y sin complicaciones.Hepatic angiomyolipoma is a mesenchymal tumor known as PEComas (Perivascular Epithelioid Cells) with unknown malignancy pattern. We present a case report of left hepatic angiomyolipoma diagnoses by computed tomography in an asymptomatic patient with no previous medical diseases. The tumor was complete resected during a left lateral hepatectomy with no complications and final histologic report was negative to cancer.

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Angiomyolipomas (AMLs) are benign tumors consisting of smooth muscle-like cells, adipocyte-like cells, and epithelioid cells. They are usually renal in origin, and extrarenal AMLs are rare. Cutaneous AMLs are even more rare. We present a case of 65 year old female, with no underlying genetic condition, who developed bilateral facial cutaneous AMLs. To the best of our knowledge, this is the first case in the literature. In addition, we investigate and suggest a correlation between human immunodeficiency virus and AMLs.

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Cutaneous angiomyolipoma is an extremally rare mesenchymal tumor, distinct from its renal counterpart. We describe two patients with cutaneous angiomyolipoma of the earlobe, all of which were clinically misdiagnosed and mistreated as epidermoid cysts, to highlight the need to consider a broad spectrum of differential diagnoses when evaluating any nodular or cystic tumor of the ear. We also provide a comprehensive literature review about this cutaneous entity.