| Entity | Alveolar soft part sarcoma with ASPSCR1 -TFE3 fusion |
| Cytogenetics | der(X)t(X;17)(p11;q25) is consistently involved; it implicates: 1- the formation of a hybrid gene at the breakpoint, and also, 2- gain in Xp11-pter sequences, and loss of heterozygocity in 11q25-qter, with possible implications |
| Hybrid/Mutated Gene | 5' ASPSCR1-3' TFE3; the reciprocal 5' TFE3 - 3' ASPSCR1 is most often absent. ASPSCR1 is fused in frame to TFE3 exon 3 or 4 |
| Abnormal Protein | NH2 term ASPSCR1, fused to the C term of TFE3 |
| Oncogenesis | might combine the effect of a fusion protein to that of gene(s) dosage |
| | |
| Entity | primary renal ASPSCR1-TFE3 tumour |
| Disease | a subset of renal cell carcinoma, which presents with a combination of alveolar soft part sarcoma-like features and epithelial features is found to carry this anomaly |
| Cytogenetics | balanced t(X;17)(p11.2;q25), in contrast with what is found in the alveolar soft part sarcoma (see above) |
| Hybrid/Mutated Gene | 5' ASPSCR1-3' TFE3 |
| Abnormal Protein | NH2 term ASPSCR1, fused to the C term of TFE3 |
| | |
| The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. |
| Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Cin PD, Bridge J |
| Oncogene. 2001 ; 20 (1) : 48-57. |
| PMID 11244503 |
| |
| 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, Antonescu CR, Illei PB, Lui MY, Timmons CF, Newbury R, Reuter VE, Garvin AJ, Perez-Atayde AR, Fletcher JA, Beckwith JB, Bridge JA, Ladanyi M |
| The American journal of pathology. 2001 ; 159 (1) : 179-192. |
| PMID 11438465 |
| |