TFE3Transcription Factor E3 (human gene)
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The Xp11 translocation RCCs harbor TFE3 gene translocation; the t(6;11) translocation RCCs harbor a MALAT1-TFEB gene fusion.
Alveolar soft-part sarcoma of the urinary bladder with urethral recurrence: a unique case with emphasis on differential diagnoses and diagnostic utility of an immunohistochemical panel including TFE3," The American Journal of Surgical Pathology, vol.
2 translocation and TFE3 gene fusion and papillary renal cell carcinoma.
Fluorescent in situ hybridization studies performed on kidney sections detected a heterogeneous and atypical TFE3 (Xp11.
The distinguishing phenotype of ASPS is its strong nuclear staining with an antibody raised against the carboxy terminal portion of TFE3 retained in the fusion protein resulting from the ASPSCR1-TFE3 fusion gene.
2, resulting in a fusion of the TFE3 gene to a variety of targets.
3) Strong nuclear expression (with adjacent negative staining in renal tubules) with the TFE3 antibody is the most sensitive and specific IHC finding to support a diagnosis of Xp11 RCC.
Recently, a study (10) of 38 PEComas found that 9 (23%) of them harbored translocations of TFE3 (transcription factor E3), a member of the microphthalmia transcription factor (MiTF) gene family located in the short arm of chromosome X.
99,100) Although our understanding of the pathogenesis of these tumors is still evolving, fluorescence in situ hybridization demonstrates TFE3 or TFEB rearrangements in a subset of tumors with morphologic similarity to t-RCC, suggesting that at least some RCC in NB survivors may be therapy-related.
A PEComa can look similar to ASPS because it may contain cytoplasmic eosinophilic granules positive for periodic acid-Schiff and show TFE3 positivity.
TFE3 is located centromerically on the short arm of the X chromosome (Xp11) and may fuse to a number of translocation partners, most commonly PRCC on chromosome 1q21 or ASPL on chromosome 17q25, resulting in overexpression of a functional TFE3 gene product.