Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3
2001-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
2.Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) [email protected].
Abstract
Review on Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3, with data on clinics, and the genes involved.
Classification
Low power image of t(X;17) renal carcinoma section showing characteristic alveolar pseudopapillary architecture with dark staining psammomatous calcifications - Courtesy Matt Burtelow and Charles D. Bangs
Clinics and Pathology
Epidemiology
Median age is 13 years (1.5 yr to 75 years). Male: Female ratio is 16:25. A subset of cases are associated with prior exposure to cytotoxic chemotherapy.
High-power image showing typical clear cells with voluminous cytoplasm and a large psammoma body - Courtesy Matt Burtelow and Charles D. Bangs
Pathology
These tumors typically demonstrate papillary to alveolar architecture, voluminous clear cytoplasm, and abundant psammoma bodies.
Hilar lymph node section showing replacement of normal nodal structure by nests of metastatic renal cell carcinoma - Courtesy Matt Burtelow and Charles D. Bangs
Treatment
Surgery.
Prognosis
Regional lymph nodes are involved in 75% of cases; however, young patients with regional node metastasis have a relatively indolent clinical course. Patients who present with distant metastases do poorly.
Cytogenetics
t(X;17)(p11;q25) G- banding: - Courtesy Charles D. Bangs
Cytogenetics morphological
Balanced t(X;17)(p11.2;q25). This is in contrast with what is found in the alveolar soft part sarcoma where the tranlocation t(X;17)(p11.2;q25) involves the same breakpoints and the same genes, but is found unbalanced in most cases.
Genes Involved and Proteins
Gene name
TFE3 (transcription factor E3)
Location
Xp11.23
Dna rna description
8 exons.
Protein description
Transcription factor; member of the basic helix-loop-helix family (b-HLH) of transcription factors primarily found to bind to the immunoglobulin enchancer muE3 motif.
Gene name
ASPSCR1 (Alveolar soft part sarcoma critical region 1)
Location
17q25.3
Protein description
476 amino acids; contains an UBX domain.
Result of the chromosomal anomaly
Description
5 ASPSCR1-3 TFE3;. ASPSCR1 is fused in frame to TFE3 exon 3 or 4 the reciprocal 5 TFE3 - 3 ASPSCR1 may or may not be transcribed
Description
NH2 term from ASPSCR1, fused to the C term of TFE3, including the activation domain, the helix-loop-helix, and the leucine zipper from TFE3.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25048860 | 2014 | Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers. | 107 |
| 37626447 | 2023 | Advances in treatment of alveolar soft part sarcoma: an updated review. | 93 |
| 38386415 | 2024 | Comparative genomics incorporating translocation renal cell carcinoma mouse model reveals molecular mechanisms of tumorigenesis. | 77 |
| 38326311 | 2024 | ASPSCR1-TFE3 reprograms transcription by organizing enhancer loops around hexameric VCP/p97. | 74 |
| 37029109 | 2023 | ASPSCR1::TFE3 orchestrates the angiogenic program of alveolar soft part sarcoma. | 68 |
| 38657118 | 2024 | ASPSCR1::TFE3 Drives Alveolar Soft Part Sarcoma by Inducing Targetable Transcriptional Programs. | 65 |
| 35628499 | 2022 | Correlation of Immunological and Molecular Profiles with Response to Crizotinib in Alveolar Soft Part Sarcoma: An Exploratory Study Related to the EORTC 90101 "CREATE" Trial. | 64 |
| 25453902 | 2014 | Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment. | 63 |
| 34489456 | 2021 | Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma. | 52 |
| 23288701 | 2013 | Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein. | 51 |
| 31433528 | 2020 | Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors. | 47 |
| 39502403 | 2024 | Exploratory analysis of immunomodulatory factors identifies L1CAM as a prognostic marker in alveolar soft-part sarcoma. | 47 |
| 35603147 | 2022 | Case Report: Two Cases of Soft-Tissue Sarcomas: High TMB as a Potential Predictive Biomarker for Anlotinib Combined With Toripalimab Therapy. | 43 |
| 37621777 | 2023 | Detection of various fusion genes by one-step RT-PCR and the association with clinicopathological features in 242 cases of soft tissue tumor. | 38 |
| 30622287 | 2019 | NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma. | 37 |
| 31782115 | 2020 | Primary Thyroid Gland Alveolar Soft Part Sarcoma. | 37 |
| 38393424 | 2024 | Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS). | 36 |
| 35626258 | 2022 | Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics. | 36 |
| 25268941 | 2015 | Brain metastasis of crystal-deficient, CD68-positive alveolar soft part sarcoma: ultrastructural features and differential diagnosis. | 30 |
| 39941809 | 2025 | "From Drowning to Treading Water": Adolescents and Young Adults Living with Incurable and Indolent Metastatic Soft Tissue Sarcoma for More than Two Years. | 28 |
| 35848761 | 2022 | PEComa-like Neoplasms Characterized by ASPSCR1-TFE3 Fusion: Another Face of TFE3-related Mesenchymal Neoplasia. | 26 |
| 37218666 | 2024 | Clinico-Pathological Spectrum of Alveolar Soft Part Sarcoma: Case Series from a Tertiary Care Cancer Referral Centre in India with a Focus on Unusual Clinical and Histological Features. | 22 |
| 33840045 | 2021 | Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature. | 21 |
| 30787990 | 2019 | Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a micropapillary pattern: cases report and literature review. | 21 |
| 39495972 | 2024 | Primary pulmonary alveolar soft part sarcoma with ASPSCR1-TFE3 gene fusion: Case report and literature review. | 18 |
| 37261154 | 2023 | Alveolar Soft Part Sarcoma of the Nasolabial Fold: A Case Report and Literature Review. | 18 |
| 37879233 | 2023 | Everolimus in combination with vandetanib in children, adolescents, and young adults: a phase I study. | 17 |
| 27733182 | 2016 | An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report. | 17 |
| 38926757 | 2024 | Patients with ASPSCR1-TFE3 fusion achieve better response to ICI based combination therapy among TFE3-rearranged renal cell carcinoma. | 15 |
| 39437509 | 2024 | Large descending colon alveolar soft part sarcoma with ASPL-TFE3 fusion gene: Case report and review of the literature. | 15 |
| 37873234 | 2023 | ASPSCR1-TFE3 reprograms transcription by organizing enhancer loops around hexameric VCP/p97. | 0 |
| 26516944 | 2015 | Alveolar Soft Part Sarcoma. | 0 |
| 37936565 | 2024 | PEComa with ASPSCR1::TFE3 fusion: expanding the molecular genetic spectrum of TFE3-rearranged PEComa with an emphasis on overlap with alveolar soft part sarcoma. | 0 |
| 39419345 | 2024 | ASPSCR1::TFE3-mediated upregulation of insulin receptor substrate 2 (IRS-2) activates PI3K/AKT signaling and promotes malignant phenotype. | 0 |
| 21835426 | 2012 | Technique for differentiating alveolar soft part sarcoma from other tumors in paraffin-embedded tissue: comparison of immunohistochemistry for TFE3 and CD147 and of reverse transcription polymerase chain reaction for ASPSCR1-TFE3 fusion transcript. | 0 |
| 31229264 | 2019 | Future directions in soft tissue sarcoma treatment. | 0 |
| 17543078 | 2007 | Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas. | 0 |
| 36104270 | 2023 | ASPSCR1-TFE3 fusion in a case of Xp11 translocation PEComa of the liver: are ASPSCR1-TFE3 fusion-bearing tumours Xp11 translocation PEComa or alveolar soft part sarcoma? | 0 |
| 21602817 | 2011 | Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions. | 0 |
| 24309327 | 2014 | Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage. | 0 |
| 30744536 | 2019 | Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion. | 0 |
| 38478355 | 2024 | Establishment and characterization of NCC-ASPS2-C1: a novel patient-derived cell line of alveolar soft part sarcoma. | 0 |
| 29604926 | 2017 | Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification. | 0 |
| 27979841 | 2017 | Modeling Alveolar Soft Part Sarcoma Unveils Novel Mechanisms of Metastasis. | 0 |
| 28009610 | 2017 | Alveolar Soft Part Sarcoma of the Female Genital Tract: A Morphologic, Immunohistochemical, and Molecular Cytogenetic Study of 10 Cases With Emphasis on its Distinction From Morphologic Mimics. | 0 |
| 31400230 | 2020 | Gene fusion analysis in renal cell carcinoma by FusionPlex RNA-sequencing and correlations of molecular findings with clinicopathological features. | 0 |
| 39593216 | 2025 | TFE3 -rearranged Head and Neck Neoplasms : Twenty-two Cases Spanning the Morphologic Continuum Between Alveolar Soft Part Sarcoma and PEComa and Highlighting Genotypic Diversity. | 0 |
| 29713041 | 2018 | RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations. | 0 |
| 32541316 | 2020 | Novel therapeutic options for alveolar soft part sarcoma: antiangiogenic therapy, immunotherapy and beyond. | 0 |
| 20002771 | 2009 | Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray. | 0 |
| 18094412 | 2007 | Angiogenesis-promoting gene patterns in alveolar soft part sarcoma. | 0 |
| 35521911 | 2023 | Primary Alveolar Soft-Part Sarcoma of the Lung: A Case Report. | 0 |
| 39009511 | 2024 | [Alveolar Soft Part Sarcoma-The Angiogenic Mechanism Regulated by a Fusion Gene Product]. | 0 |
| 37877532 | 2023 | Alveolar soft part sarcoma in a child - a case report. | 0 |
| 32648033 | 2020 | Establishment and characterization of NCC-ASPS1-C1: a novel patient-derived cell line of alveolar soft-part sarcoma. | 0 |
| 39103264 | 2024 | [TFE3-rearranged perivascular epithelioid cell tumors: a clinicopathological analysis of eight cases]. | 0 |
| 32515162 | 2020 | Primary alveolar soft part sarcoma of the rectum resected by endoscopic submucosal dissection: A case report. | 0 |
| 21074195 | 2011 | Transcription factor E3 and transcription factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors. | 0 |
| 19380023 | 2009 | Molecular analyses of cell origin and detection of circulating tumor cells in the peripheral blood in alveolar soft part sarcoma. | 0 |
| 38086760 | 2024 | Primary Uterine Alveolar Soft Part Sarcoma in a Postmenopausal Woman: Histopathologic and Immunohistochemical Characteristics of a Rare Case. | 0 |
| 30986487 | 2019 | Second Reported Case of Pediatric Bladder Alveolar Soft Part Sarcoma as Secondary Malignancy After Prior Cytotoxic Chemotherapy. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11438465 | 2001 | Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. | Argani P et al |
| 16575003 | 2006 | Translocation carcinomas of the kidney after chemotherapy in childhood. | Argani P et al |
| 24309327 | 2014 | Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage. | Ellis CL et al |
| 7656211 | 1995 | Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25). | Hernandez-Martí MJ et al |
| 1684532 | 1991 | Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint. | Tomlinson GE et al |
Citation
Jean-Loup Huret
Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3
Atlas Genet Cytogenet Oncol Haematol. 2001-08-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5126/kidney-renal-cell-carcinoma-with-t(x;17)(p11;q25)-aspscr1-tfe3
Historical Card
0000-00-00 Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3 by Pedram Argani Affiliation
Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) [email protected].
