Renal epithelioid angiomyolipomas overexpress TFE3 and the TFE3-regulated gene TRIM63 in the absence of TFE3 rearrangement

Brimo F, Robinson B, Guo C et al (2010) Renal epithelioid angiomyolipoma with atypia: a series of 40 cases with emphasis on clinicopathologic prognostic indicators of malignancy. Am J Surg Pathol 34:715–722

Article  PubMed  Google Scholar 

Martignoni G, Pea M, Gobbo S et al (2009) Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas. Mod Pathol 22:1016–1022

Article  CAS  PubMed  Google Scholar 

Martignoni G, Gobbo S, Camparo P et al (2011) Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions. Mod Pathol 24:1313–1319

Article  CAS  PubMed  Google Scholar 

Argani P, Wobker SE, Gross JM et al (2022) PEComa-like neoplasms characterized by ASPSCR1-TFE3 fusion: another face of TFE3-related mesenchymal neoplasia. Am J Surg Pathol 46:1153–1159

Article  PubMed  PubMed Central  Google Scholar 

Schoolmeester JK, Dao LN, Sukov WR et al (2015) TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis. Am J Surg Pathol 39:394–404

Article  PubMed  PubMed Central  Google Scholar 

Shen Q, Rao Q, Xia QY et al (2014) Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: clinicopathological, immunohistochemical, and molecular features. Virchows Arch 465:607–613

Article  CAS  PubMed  Google Scholar 

Wang XM, Zhang Y, Mannan R et al (2021) TRIM63 is a sensitive and specific biomarker for MiT family aberration-associated renal cell carcinoma. Mod Pathol 34:1596–1607

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hes O, Raspollini MR, Martignoni G, Calio, A (2022) Epithelioid angiomyolipoma/epithelioid PEComa of the kidney. In: Amin MB, Berney DM, Comperat EM, Menon S, Netto GJ Raspollini MR, Rubin MA Tickoo SK, Trujalic S (eds) WHO Classification of Tumours: Urinary and Male Genital Tumours,5th edn. Lyon (France): International Agency for Research on Cancer, pp 102–104

Salles DC, Asrani K, Woo J et al (2022) GPNMB expression identifies TSC1/2/mTOR-associated and MiT family translocation-driven renal neoplasms. J Pathol 257:158–171

Article  CAS  PubMed  PubMed Central  Google Scholar 

McGregor SM, Alikhan MB, John RA et al (2017) Melanotic PEComa of the sinonasal mucosa with NONO-TFE3 fusion: an elusive mimic of sinonasal melanoma. Am J Surg Pathol 41:717–722

Article  PubMed  Google Scholar 

Wang L, Zhang Y, Chen YB et al (2018) VSTM2A overexpression is a sensitive and specific biomarker for mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney. Am J Surg Pathol 42:1571–1584

Article  PubMed  PubMed Central  Google Scholar 

Skala SL, Wang X, Zhang Y et al (2020) Next-generation RNA sequencing-based biomarker characterization of chromophobe renal cell carcinoma and related oncocytic neoplasms. Eur Urol 78:63–74

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dickson BC, Swanson D (2019) Targeted RNA sequencing: a routine ancillary technique in the diagnosis of bone and soft tissue neoplasms. Genes Chromosomes Cancer 58:75–87

Article  CAS  PubMed  Google Scholar 

Liu S, Tsai WH, Ding Y et al (2016) Comprehensive evaluation of fusion transcript detection algorithms and a meta-caller to combine top performing methods in paired-end RNA-seq data. Nucleic Acids Res 44:e47

Article  PubMed  Google Scholar 

Chen X, Schulz-Trieglaff O, Shaw R et al (2016) Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications. Bioinformatics 32:1220–1222

Article  CAS  PubMed  Google Scholar 

Aydin H, Magi-Galluzzi C, Lane BR et al (2009) Renal angiomyolipoma: clinicopathologic study of 194 cases with emphasis on the epithelioid histology and tuberous sclerosis association. Am J Surg Pathol 33:289–297

Article  PubMed  Google Scholar 

Lane BR, Aydin H, Danforth TL et al (2008) Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid. J Urol 180:836–843

Article  PubMed  Google Scholar 

Jinzaki M, Silverman SG, Akita H et al (2014) Renal angiomyolipoma: a radiological classification and update on recent developments in diagnosis and management. Abdom Imaging 39:588–604

Article  PubMed  PubMed Central  Google Scholar 

Rakowski SK, Winterkorn EB, Paul E et al (2006) Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 70:1777–1782

Article  CAS  PubMed  Google Scholar 

Ewalt DH, Sheffield E, Sparagana SP et al (1998) Renal lesion growth in children with tuberous sclerosis complex. J Urol 160:141–145

Article  CAS  PubMed  Google Scholar 

Kingswood JC, Belousova E, Benedik MP et al (2019) Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant 34:502–508

Article  CAS  PubMed  Google Scholar 

Ni J, Yan F, Qin W et al (2019) Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. Sci Rep 9:14337

Article  PubMed  PubMed Central  Google Scholar 

Pleniceanu O, Omer D, Azaria E et al (2018) mTORC1 inhibition is an effective treatment for sporadic renal angiomyolipoma. Kidney Int Rep 3:155–159

Article  PubMed  Google Scholar 

Kuusk T, Biancari F, Lane B et al (2015) Treatment of renal angiomyolipoma: pooled analysis of individual patient data. BMC Urol 15:123

Article  PubMed  PubMed Central  Google Scholar 

Dabora SL, Franz DN, Ashwal S et al (2011) Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PLoS ONE 6:e23379

Article  CAS  PubMed  PubMed Central  Google Scholar 

Davies DM, de Vries PJ, Johnson SR et al (2011) Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 17:4071–4081

Article  CAS  PubMed  Google Scholar 

Tallarigo C, Baldassarre R, Bianchi G et al (1992) Diagnostic and therapeutic problems in multicentric renal angiomyolipoma. J Urol 148:1880–1884

Article  CAS  PubMed  Google Scholar 

Nese N, Martignoni G, Fletcher CD et al (2011) Pure epithelioid PEComas (so-called epithelioid angiomyolipoma) of the kidney: a clinicopathologic study of 41 cases: detailed assessment of morphology and risk stratification. Am J Surg Pathol 35:161–176

Article  PubMed  Google Scholar 

He W, Cheville JC, Sadow PM et al (2013) Epithelioid angiomyolipoma of the kidney: pathological features and clinical outcome in a series of consecutively resected tumors. Mod Pathol 26:1355–1364

Article  PubMed  Google Scholar 

Boudaouara O, Kallel R, Dhieb D et al (2020) Renal angiomyolipoma: clinico-pathologic study of 17 cases with emphasis on the epithelioid histology and p53 gene abnormalities. Ann Diagn Pathol 47:151538

Article  PubMed  Google Scholar 

Saoud R, Kristof TW, Judge C et al (2022) Clinical and pathological features of renal epithelioid angiomyolipoma (PEComa): a single institution series. Urol Oncol 40:18–24

Article  PubMed  Google Scholar 

Faraji H, Nguyen BN, Mai KT (2009) Renal epithelioid angiomyolipoma: a study of six cases and a meta-analytic study. Development of criteria for screening the entity with prognostic significance. Histopathology 55:525–534

Article  PubMed 

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