Occult Renal Cell Carcinoma of Eosinophilic Morphology Detected within Renal Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

Wang, Chun-Nian; Wang, Suying; Lin, Min-Jiang; Wang, Hongwei

doi:10.4103/0366-6999.207476

Cited by 3 publications

(5 citation statements)

References 4 publications

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“…3,4,6,8 The mean age of the patients with collision tumors was 25.5 ± 1.2 years, similar to our case. 3,4,[6][7][8][9] Approximately 50% to 80% of patients with TSC will have angiomyolipomas. 4 Renal angiomyolipomas are mixed mesenchymal tumors belonging to the family of perivascular epithelioid cell tumors; they are the most common kidney manifestation in TSC.…”

Section: Discussionsupporting

confidence: 87%

“…Coexistence of renal cell carcinoma and angiomyolipoma within the same tumor is anecdotal, with only 6 cases reported, 3,4,[6][7][8][9] and 4 of the patients had TSC. 3,4,6,8 The mean age of the patients with collision tumors was 25.5 ± 1.2 years, similar to our case. 3,4,[6][7][8][9] Approximately 50% to 80% of patients with TSC will have angiomyolipomas.…”

Section: Discussionmentioning

confidence: 99%

“…The kidney is involved in approximately 80% to 85% of cases. 3 Patients with TSC have an increased incidence of tumors, such as multiple renal angiomyolipomas, renal cell carcinoma, and oncocytoma. 4 An angiomyolipoma is a mixed mesenchymal benign tumor composed of smooth muscle, adipose tissue, and blood vessels.…”

Section: Introductionmentioning

confidence: 99%

“…The coexistence of renal cell carcinoma and renal angiomyolipoma within the same tumor mass, also called collision tumor, is unusual, and, to our knowledge, only 6 cases have been reported. 3,4,[6][7][8][9] We present a case of a young male with TSC and a giant angiomyolipoma that contained a focal lesion with renal cell carcinoma.…”

Section: Introductionmentioning

confidence: 99%

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Collision Tumor of the Kidney: Renal Cell Carcinoma Hidden in a Giant Angiomyolipoma in a Patient With Tuberous Sclerosis Complex

Robles-Torres

Arrambide-Herrera

Molina-Ayala

et al. 2021

TOJ

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Background: A renal angiomyolipoma is a mixed mesenchymal benign tumor composed of smooth muscle, adipose tissue, and blood vessels. Malignant transformation of angiomyolipomas is anecdotal. To our knowledge, only 6 cases have been reported, and 4 of the patients had tuberous sclerosis complex diagnosed. Case Report: We present the case of a 29-year-old male with tuberous sclerosis complex who arrived at the emergency room with gross hematuria and a painful right-sided abdominal mass. Imaging studies revealed active bleeding from a giant angiomyolipoma. An emergency nephrectomy was performed. Histopathology evaluation revealed an angiomyolipoma with a focal lesion and clear cell renal carcinoma within the tumor. Conclusion: Limited evidence is available to dictate management of collision tumors of the kidney in the scenario of tuberous sclerosis complex, so a multidisciplinary approach that includes urology, oncology, genetics, and nephrology intervention needs to be considered. No standardized follow-up modality has been established for angiomyolipomas, so patients should be placed under active surveillance, similar to that carried out in cases of renal cell carcinoma.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Collision Tumor of the Kidney: Renal Cell Carcinoma Hidden in a Giant Angiomyolipoma in a Patient With Tuberous Sclerosis Complex

Robles-Torres

Arrambide-Herrera

Molina-Ayala

et al. 2021

TOJ

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“…Recent studies of renal or hepatic AMLs showed myoid and vascular components to be monoclonal and adipose tissue components polyclonal, which meant the tumor had proliferative activity. [ 4 5 ] Multiple AMLs appear to be individual clones, not liver metastases. However, the real challenge for her is pulmonary LAMs.…”

mentioning

confidence: 99%

Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

Cao

Chen

2017

Chinese Medical Journal

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Diagnostic features of tuberous sclerosis complex: case report and literature review

Alshoabi¹,

Hamid²,

Alhazmi³

et al. 2022

Quant Imaging Med Surg

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Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome that is caused by mutations in the tumour suppressor genes TSC1 or TSC2 which causes multiorgan growths. TSC presents at any age as a wide range of clinical and phenotypic manifestations with varying severity. The main goal of this article was to state two cases of TSC and review the most commonly reported major and minor diagnostic clinical features and the most common features that led to an investigation of possible TSC diagnosis. Herein, we report two cases of TSC, which both presented with seizures during the first 6 months of life. Case 1 presented with multiple types of seizures from 6 months of age and was diagnosed by multiple calcified subependymal nodules (SENs) detected by computed tomography and magnetic resonance imaging (MRI). Case 2 presented with seizures from 3 months of age and was diagnosed prenatally when a tumour was seen in her heart during antenatal ultrasonography. In conclusion, the literature review revealed that neurological manifestations (mainly seizures) were the main feature that led to investigation and diagnosis of TSC followed by abdominal manifestations (mainly renal features) and antenatal follow-up imaging.Other manifestations in skin, chest, eyes, teeth and heart rarely led to TSC diagnosis. In some cases, TSC was incidentally discovered by medical imaging. The cortical tubers, SENs, and subependymal giant cell astrocytomas brain lesions were the most commonly reported major features. Skin features including angiofibromas, ungual fibromas and shagreen patch were the second most common major features reported in the literature. However, skin manifestations were not a common led to investigation and diagnosis of TSC. Renal features, mainly angiomyolipomas (AMLs), were the third most common major feature reported. Medical imaging plays an essential role in diagnosis of TSC, and clinical features are important clues that lead to investigation for the disease.

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Occult Renal Cell Carcinoma of Eosinophilic Morphology Detected within Renal Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

Cited by 3 publications

References 4 publications

Collision Tumor of the Kidney: Renal Cell Carcinoma Hidden in a Giant Angiomyolipoma in a Patient With Tuberous Sclerosis Complex

Collision Tumor of the Kidney: Renal Cell Carcinoma Hidden in a Giant Angiomyolipoma in a Patient With Tuberous Sclerosis Complex

Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex

Diagnostic features of tuberous sclerosis complex: case report and literature review

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