TFE3 gene related symptoms and diseases
All the information presented here about the TFE3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TFE3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Pain | Rare - less than 30% cases |
| Headache | Rare - less than 30% cases |
| Cough | Rare - less than 30% cases |
| Chest pain | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with TFE3 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Sarcoma
- Paraganglioma
- Soft tissue sarcoma
- Alveolar soft part sarcoma
- Carcinoma
- Renal cell carcinoma
Rare diseases associated to TFE3 gene
Here you will find a list of rare diseases related to the TFE3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EPITHELIOID HEMANGIOENDOTHELIOMA
ALVEOLAR SOFT TISSUE SARCOMA
Alternate names
ALVEOLAR SOFT TISSUE SARCOMA Is also known as alveolar soft part sarcoma, asps
Description
Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance (Ladanyi et al., 2001).
Most common symptoms of ALVEOLAR SOFT TISSUE SARCOMA
- Neoplasm
- Pain
- Headache
- Cough
- Chest pain
More info about ALVEOLAR SOFT TISSUE SARCOMA
RENAL CELL CARCINOMA, XP11-ASSOCIATED; RCCX1
Description
Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (OMIM ) on chromosome 17q25 and PRCC (OMIM ) on 1q21, and more rarely, NONO (OMIM ) on Xq13, SFPQ (OMIM ) on 1p34, CLTC (OMIM ) on 17q23, and unknown genes on chromosomes 3 and 10. Xp11 translocations are often found in pediatric tumors and less commonly in adults. However, adult cases may outnumber pediatric cases since renal cell carcinoma is more common in the adult population. Prior chemotherapy is a known risk factor for Xp11 translocations. Histology shows both clear cells and papillary architecture, often with abundant psammoma bodies, although variable histologic features have been observed (review by Ross and Argani, 2010).For a discussion of genetic heterogeneity of renal cell carcinoma, see RCC (OMIM ).
Most common symptoms of RENAL CELL CARCINOMA, XP11-ASSOCIATED; RCCX1
- Neoplasm
- Carcinoma
- Renal cell carcinoma
More info about RENAL CELL CARCINOMA, XP11-ASSOCIATED; RCCX1
SOURCES: OMIM
MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA
Alternate names
MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA Is also known as carcinoma associated with mitf/tfe translocation, translocation renal cell carcinoma
Description
MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
More info about MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA
SOURCES: ORPHANET
Search interest in TFE3
Potential gene panels for TFE3 gene
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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