Renal Epithelioid Angiomyolipoma with Epithelial Cysts Mimicking Cystic Renal Cell Carcinoma: A Case Report of Combination of Two Rare Entities

Lee, Sang Hoon; Lee, Jeong Sub; Kim, Jeong Jae; Ko, Su Yeon; Lee, Kyung Ryeol; Hwang, Im Kyung; Hyun, Chang Lim

doi:10.3348/jksr.2021.0172

Cited by 2 publications

(3 citation statements)

References 10 publications

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“…Only one case resulted in the patient’s death, which was unrelated to AMLEC but due to another underlying disease. Additionally, there have been two reported cases of a combination of AMLEC and EAML, which were also confirmed based on immunohistochemical and imaging studies ( 6 , 15 ). It is crucial to establish appropriate timing and frequency for follow-up examinations, but chemotherapy or radiation therapy is unnecessary for AMLEC ( 15 ).…”

Section: Discussionmentioning

confidence: 59%

“…To date, only a total of 27 cases have been reported in 11 published case reports ( 3 – 14 ). Furthermore, there are only two reports that present the immunohistochemical and imaging characteristics of a combination of AMLEC and EAML another variant of AML ( 6 , 15 ). Notably, there have been no reports of progression or metastasis during the indolent clinical course of AMLEC.…”

Section: Introductionmentioning

confidence: 99%

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TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review

Song,

Mao,

Jiao

et al. 2024

Front. Oncol.

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BackgroundAngiomyolipoma with epithelial cysts (AMLEC) is an extremely rare subtype of kidney angiomyolipoma that contains epithelial-lined cysts. The most distinctive immunohistochemical feature of AMLEC is its immunoreactivity with melanocytic markers. AMLEC also has a distinct histological structure, which aids in its pathological diagnosis. To date 27 cases of AMLEC have been reported in 11 case series. However, the molecular biology underlying the pathogenesis of AMLEC remains unexplored.Case reportA 30-year-old female was diagnosed with AMLEC and underwent partial nephrectomy. Histologically, the cross-section of cystic tissue revealed a multilocular appearance, with some cysts containing thrombus-like material, and the wall thickness was approximately 0.2 ~ 0.3 cm. Additionally, the compact subepithelial cellular stroma showed strong and diffuse nuclear labeling for estrogen receptor, progesterone receptor, and CD10, as well as HMB45 and Melan A, which are markers of melanocytic differentiation. Furthermore, using a DNA targeted sequencing panel with next-generation sequencing, we identified a nonsense mutation in TSC Complex Subunit 2 (TSC2) gene, resulting in the formation of a premature termination codon. Moreover, the mutated genes found to be enriched in the PI3K-AKT pathway. The patient in this case had a favorable postoperative follow-up at 3 months.ConclusionTo the best of our knowledge, this study represents the first analysis of genotype mutations in AMLEC, providing valuable insights for future clinical practice. These findings have significant potential in guiding the understanding and management of AMLEC, paving the way for further research and advancements in the field.

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review

Song,

Mao,

Jiao

et al. 2024

Front. Oncol.

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“…It can occur in the kidney, liver, bone, ileum, pelvic retroperitoneum, and most commonly in the kidney, with local invasion or metastasis. About one-third of patients may have lymph nodes, liver, lung, or spinal metastasis ( 4 ).…”

Section: Introductionmentioning

confidence: 99%

Primary renal malignant epithelioid angiomyolipoma with distant metastasis: a case report and literature review

Zhang,

Wang,

Chen

et al. 2023

Front. Oncol.

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Epithelioid angiomyolipoma (EAML) is a rare type of mesenchymal angiomyolipoma with potential malignancy in the kidney that can cause lymph node metastases, local recurrence, and distant metastases. Herein, we describe a case of EAML in the right kidney of a 51-year-old man who was admitted to the hospital with a right abdominal mass. Computed tomography revealed a heterogeneously enhanced mass with blurred margins, which was considered a malignant tumor. A radical nephrectomy was then performed. Two years later, the patient developed liver metastases from EAML and was administered sintilimab combined with bevacizumab. The patient survived after 6 months of follow-up. Histologically, the tumors showed clear boundaries and no obvious capsules. The tumor tissue mainly consisted of epithelioid tumor cells, thick-walled blood vessels, and a small amount of adipose tissue. Tumor cells with lipid vacuoles and acinar areas were large, round, polygonal, eosinophilic, or transparent in the cytoplasm. The enlarged and hyperchromatic nuclei were accompanied by distinct nucleoli and pathological mitosis. These histopathological findings resembled those of renal cell carcinoma, and immunohistochemical analysis was performed. The tumor cells were diffusely positive for HMB45, Melan-A, CK20, vimentin antibodies, and TFE3, suggesting that the tumor originated from perivascular epithelioid cells, excluding renal cell carcinoma. The Ki-67 index was 10%. These histopathological features were observed in liver mass puncture tissues. We also summarized 46 cases of EAML with distant metastasis and explored the clinicopathological features of EAML to improve the treatment of the disease. EAML is often ignored in the clinical setting, leading to metastasis and recurrence. Therefore, EAMLs require long-term follow-up, and timely detection of recurrent disease can improve the prognosis.

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Renal Epithelioid Angiomyolipoma with Epithelial Cysts Mimicking Cystic Renal Cell Carcinoma: A Case Report of Combination of Two Rare Entities

Cited by 2 publications

References 10 publications

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review

Primary renal malignant epithelioid angiomyolipoma with distant metastasis: a case report and literature review

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