Kidney: Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3

2001-08-01   Jean-Loup Huret 

1.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) pargani@jhmi.edu.

Abstract

Review on Renal cell carcinoma with t(X;17)(p11;q25) ASPSCR1/TFE3, with data on clinics, and the genes involved.

Classification

Atlas Image
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.
Atlas Image
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.
Atlas Image
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

Atlas Image
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 IDYearTitleCitations
250488602014Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers.101
243093272014Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage.46
254539022014Modeling alveolar soft part sarcomagenesis in the mouse: a role for lactate in the tumor microenvironment.35
216028172011Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions.35
180944122007Angiogenesis-promoting gene patterns in alveolar soft part sarcoma.27
210741952011Transcription factor E3 and transcription factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors.25
279798412017Modeling Alveolar Soft Part Sarcoma Unveils Novel Mechanisms of Metastasis.23
232887012013Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein.20
297130412018RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations.18
193800232009Molecular analyses of cell origin and detection of circulating tumor cells in the peripheral blood in alveolar soft part sarcoma.16
306222872019NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma.15
265169442015Alveolar Soft Part Sarcoma.14
175430782007Detection of the ASPSCR1-TFE3 gene fusion in paraffin-embedded alveolar soft part sarcomas.14
312292642019Future directions in soft tissue sarcoma treatment.9
200027712009Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray.9
218354262012Technique 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.8
314335282019Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors.5
314002302019Gene fusion analysis in renal cell carcinoma by FusionPlex RNA-sequencing and correlations of molecular findings with clinicopathological features.4
344894562021Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.3
307879902019Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a micropapillary pattern: cases report and literature review.3
280096102017Alveolar 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.3
296049262017Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification.3
307445362019Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.2
325413162020Novel therapeutic options for alveolar soft part sarcoma: antiangiogenic therapy, immunotherapy and beyond.1
356284992022Correlation of Immunological and Molecular Profiles with Response to Crizotinib in Alveolar Soft Part Sarcoma: An Exploratory Study Related to the EORTC 90101 "CREATE" Trial.0
358487612022PEComa-like Neoplasms Characterized by ASPSCR1-TFE3 Fusion: Another Face of TFE3-related Mesenchymal Neoplasia.0
356031472022Case Report: Two Cases of Soft-Tissue Sarcomas: High TMB as a Potential Predictive Biomarker for Anlotinib Combined With Toripalimab Therapy.0
355219112022Primary Alveolar Soft-Part Sarcoma of the Lung: A Case Report.0
356262582022Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics.0
338400452021Primary Alveolar Soft Part Sarcoma of Cheek: Report of a Case and Review of the Literature.0
326480332020Establishment and characterization of NCC-ASPS1-C1: a novel patient-derived cell line of alveolar soft-part sarcoma.0
317821152020Primary Thyroid Gland Alveolar Soft Part Sarcoma.0
325151622020Primary alveolar soft part sarcoma of the rectum resected by endoscopic submucosal dissection: A case report.0
309864872019Second Reported Case of Pediatric Bladder Alveolar Soft Part Sarcoma as Secondary Malignancy After Prior Cytotoxic Chemotherapy.0
277331822016An Xp11.2 translocation renal cell carcinoma with SMARCB1 (INI1) inactivation in adult end-stage renal disease: a case report.0
252689412015Brain metastasis of crystal-deficient, CD68-positive alveolar soft part sarcoma: ultrastructural features and differential diagnosis.0

Bibliography

Pubmed IDLast YearTitleAuthors
114384652001Primary 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
165750032006Translocation carcinomas of the kidney after chemotherapy in childhood.Argani P et al
243093272014Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage.Ellis CL et al
76562111995Renal adenocarcinoma in an 8-year-old child, with a t(X;17)(p11.2;q25).Hernandez-Martí MJ et al
16845321991Cytogenetics 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 

Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) pargani@jhmi.edu.