Alveolar Soft Part Sarcoma

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ASPSCR1, TFE3, MET, CD38, CD68, MLH1, MSH2, CTSK, CTNNB1, CSNK1D, ACTB, MYOD1, VEGFA, TP53, PAX8, TIMP2, SPG7, SET, VIM, XRCC1, CD163, TFEB, PROM1, PER2, PSMC2, NR1I3, TRIM13, PDPN, NES, ANGPTL2

ASPSCR1, TFE3, MET, CD38, CD68, MLH1, MSH2, CTSK, CTNNB1, CSNK1D, ACTB, MYOD1, VEGFA, TP53, PAX8, TIMP2, SPG7, SET, VIM, XRCC1, CD163, TFEB, PROM1, PER2, PSMC2, NR1I3, TRIM13, PDPN, NES, ANGPTL2, BHLHE41, COG8, TRIM63, TMED6, RET, PCSK1, PSMA4, ATN1, ANG, APC, ARR3, ASS1, BSG, CALD1, CASR, CD34, CXADR, DES, MLANA, PRKAR1A, HIF1A, HTC2, ITGB1, KDR, MDK, MYOG, TBC1D25, ALDH1A1, PDGFRB, ABCB1, CXADRP1

Drugs

(-)-trans-3-(5,6-dihydro-4H-pyrrolo[3,2,1-ij]quinolin-1yl)-4-(1H-indol-3-yl) pyrrolidine-2, 5-dione, (1-methyl-2-nitro-1H-imidazole-5-yl)methyl N,N'-bis(2-bromoethyl) diamidophosphate, 16-base single-stranded peptide nucleic acid oligonucleotide linked to a 7-amino acid peptide, 18-(p-(, 4-oxo-4H-chromene-2-carboxylic acid (2-(2-4-(2-(6,7-dimethoxy-3,4-dihydro-1H-isoquinolin-2-yl)-ethyl)-phenyl-2H-tetrazol-5-yl)-4,5-dimethoxy-phenyl)-amide, 7-ethyl-10-hydroxy-camptothecin, Anlotinib, Autologous CD4+ and CD8+ T cells transduced with a lentiviral vector encoding an affinity enhanced T cell receptor specific to MAGE-A4, Autologous CD4+ and CD8+ T cells transduced with lentiviral vector containing an affinity-enhanced T-cell receptor targeting the New York esophageal antigen-1, Brostallicin, Camsirubicin, Crenolanib besylate, Deforolimus, Doxorubicin hydrochloride (liposomal) ( DOXIL ), Doxorubicin(6-maleimidocaproyl)hydrazone, Fenretinide, Fibromun, Genetically modified serotype 5/3 adenovirus coding for granulocyte-macrophage colony-stimulating factor, Human/murine chimeric monoclonal antibody against endoglin, Larotrectinib ( VITRAKVI ), Mammalian target of rapamcyin (mTOR) inhibitor, N-acetylsarcosyl-glycyl-L-valyl-D-allo-isoleucyl-L-threonyl-L-norvalyl-L-isoleucyl-L-arginyl-L-prolyl-N-ethylamide, Olaratumab ( LARTRUVO ), Ombrabulin, Paclitaxel ( TAXOL ), Palifosfamide, Propranolol hydrochloride ( HEMANGEOL ), Sindbis virus envelope pseudotyped lentiviral vector encoding New York oesophageal squamous cell carcinoma-1 protein, Trabectedin ( YONDELIS ), Vinorelbine tartrate, Yttrium (90Y)-DTPA-radiolabelled chimeric monoclonal antibody against frizzled homologue 10

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A number sign (#) is used with this entry because some cases of alveolar soft part sarcoma have been found to be caused by fusion of the ASPSCR1 (606236) and TFE3 (314310) genes.

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).

Clinical Features

Most cases of ASPS occur in the second and third decade of life, with a slight female predilection (Ordonez, 1999). ASPS usually involves the muscle and deep soft tissues of the extremities, but has also been reported in tissues where skeletal muscle is absent. Ultrastructural analysis shows secretory-like granules and, in about half of cases, characteristic rectangular or rhomboid crystalline cytoplasmic deposits of unknown composition (Ordonez, 1999). Distant metastases are common but often indolent. Although prolonged survival is possible even in patients with metastases, the long-term disease-specific mortality is high (Lieberman et al., 1989).

Clinical Management

The treatment for ASPS is primarily surgical (Lieberman et al., 1989).

Cytogenetics

Cytogenetic studies identified a recurrent der(17) due to a nonreciprocal t(X;17)(p11.2;q25) in cases of ASPS (Joyama et al., 1999).

Molecular Genetics

Ladanyi et al. (2001) detected an ASPSCR1/TFE3 fusion transcript in all 12 ASPS cases studied. The ASPSCR1/TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPSCR1 sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of ASPS.