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 - PubMed (original) (raw)
. 2001 Jan 4;20(1):48-57.
doi: 10.1038/sj.onc.1204074.
M Y Lui, C R Antonescu, A Krause-Boehm, A Meindl, P Argani, J H Healey, T Ueda, H Yoshikawa, A Meloni-Ehrig, P H Sorensen, F Mertens, N Mandahl, H van den Berghe, R Sciot, P Dal Cin, J Bridge
Affiliations
- PMID: 11244503
- DOI: 10.1038/sj.onc.1204074
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
M Ladanyi et al. Oncogene. 2001.
Abstract
Alveolar soft part sarcoma (ASPS) is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior. Recent cytogenetic studies have identified a recurrent der(17) due to a non-reciprocal t(X;17)(p11.2;q25) in this sarcoma. To define the interval containing the Xp11.2 break, we first performed FISH on ASPS cases using YAC probes for OATL1 (Xp11.23) and OATL2 (Xp11.21), and cosmid probes from the intervening genomic region. This localized the breakpoint to a 160 kb interval. The prime candidate within this previously fully sequenced region was TFE3, a transcription factor gene known to be fused to translocation partners on 1 and X in some papillary renal cell carcinomas. Southern blotting using a TFE3 genomic probe identified non-germline bands in several ASPS cases, consistent with rearrangement and possible fusion of TFE3 with a gene on 17q25. Amplification of the 5' portion of cDNAs containing the 3' portion of TFE3 in two different ASPS cases identified a novel sequence, designated ASPL, fused in-frame to TFE3 exon 4 (type 1 fusion) or exon 3 (type 2 fusion). Reverse transcriptase PCR using a forward primer from ASPL and a TFE3 exon 4 reverse primer detected an ASPL-TFE3 fusion transcript in all ASPS cases (12/12: 9 type 1, 3 type 2), establishing the utility of this assay in the diagnosis of ASPS. Using appropriate primers, the reciprocal fusion transcript, TFE3-ASPL, was detected in only one of 12 cases, consistent with the non-reciprocal nature of the translocation in most cases, and supporting ASPL-TFE3 as its oncogenically significant fusion product. ASPL maps to chromosome 17, is ubiquitously expressed, and matches numerous ESTs (Unigene cluster Hs.84128) but no named genes. The ASPL cDNA open reading frame encodes a predicted protein of 476 amino acids that contains within its carboxy-terminal portion of a UBX-like domain that shows significant similarity to predicted proteins of unknown function in several model organisms. The ASPL-TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPL sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of this tumor, consistent with the biology of several other translocation-associated sarcomas. Oncogene (2001) 20, 48 - 57.
Similar articles
- 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. Argani P, et al. Am J Pathol. 2001 Jul;159(1):179-92. doi: 10.1016/S0002-9440(10)61684-7. Am J Pathol. 2001. PMID: 11438465 Free PMC article. - Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature.
Uppal S, Aviv H, Patterson F, Cohen S, Benevenia J, Aisner S, Hameed M. Uppal S, et al. Acta Orthop Belg. 2003 Apr;69(2):182-7. Acta Orthop Belg. 2003. PMID: 12769020 - Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues.
Pang LJ, Chang B, Zou H, Qi Y, Jiang JF, Li HA, Hu WH, Chen YZ, Liu CX, Zhang WJ, Li F. Pang LJ, et al. Diagn Mol Pathol. 2008 Dec;17(4):245-52. doi: 10.1097/PDM.0b013e31815d68d7. Diagn Mol Pathol. 2008. PMID: 18382356 - Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature.
Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H. Joyama S, et al. Cancer. 1999 Oct 1;86(7):1246-50. Cancer. 1999. PMID: 10506710 Review. - Alveolar Soft Part Sarcoma.
Jaber OI, Kirby PA. Jaber OI, et al. Arch Pathol Lab Med. 2015 Nov;139(11):1459-62. doi: 10.5858/arpa.2014-0385-RS. Arch Pathol Lab Med. 2015. PMID: 26516944 Review.
Cited by
- TFE3-Rearranged Tumors of the Kidney: An Emerging Conundrum.
Caliò A, Marletta S, Brunelli M, Antonini P, Martelli FM, Marcolini L, Stefanizzi L, Martignoni G. Caliò A, et al. Cancers (Basel). 2024 Oct 4;16(19):3396. doi: 10.3390/cancers16193396. Cancers (Basel). 2024. PMID: 39410016 Free PMC article. Review. - An unusual case of primary splenic soft part alveolar sarcoma: case report and review of the literature with emphasis on the spectrum of TFE3-associated neoplasms.
Guérin R, Menard AL, Angot E, Piton N, Vera P, Schwarz L, Sabourin JC, Laé M, Thiébaut PA. Guérin R, et al. Diagn Pathol. 2024 Apr 20;19(1):62. doi: 10.1186/s13000-024-01483-4. Diagn Pathol. 2024. PMID: 38643139 Free PMC article. Review. - Functional Classification of Fusion Proteins in Sarcoma.
Wachtel M, Surdez D, Grünewald TGP, Schäfer BW. Wachtel M, et al. Cancers (Basel). 2024 Mar 29;16(7):1355. doi: 10.3390/cancers16071355. Cancers (Basel). 2024. PMID: 38611033 Free PMC article. Review. - Establishment and characterization of NCC-ASPS2-C1: a novel patient-derived cell line of alveolar soft part sarcoma.
Osaki J, Noguchi R, Yanagihara K, Ono T, Adachi Y, Iwata S, Toda Y, Sekita T, Kobayashi E, Kojima N, Yoshida A, Kawai A, Kondo T. Osaki J, et al. Hum Cell. 2024 May;37(3):865-873. doi: 10.1007/s13577-024-01039-0. Epub 2024 Mar 13. Hum Cell. 2024. PMID: 38478355 - Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS).
Taylor AS, Mannan R, Pantanowitz L, Chinnaiyan AM, Dhanasekaran SM, Hrycaj S, Cao X, Chan MP, Lucas D, Wang XM, Mehra R. Taylor AS, et al. Med Oncol. 2024 Feb 23;41(3):76. doi: 10.1007/s12032-024-02305-9. Med Oncol. 2024. PMID: 38393424 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases