Disease relevance of Rhabdomyosarcoma, Alveolar

• Here, we identify such a fusion protein breakpoint epitope in the PAX-FKHR fusion protein created by the t(2;13) translocation present in 80% of cases of alveolar rhabdomyosarcoma, a highly aggressive pediatric soft-tissue sarcoma [1].
• Although staining for myogenin was observed in 22 of 26 rhabdomyosarcomas, all alveolar rhabdomyosarcomas (nine of nine) showed high levels of staining for myogenin, as defined by the frequency and intensity of staining of the tumor cells [2].
• The blastemal component of Wilms' tumor (WT) might be indistinguishable histologically from other small, blue, round-cell tumors of childhood, including alveolar rhabdomyosarcoma (RMS), particularly in small biopsy specimens and in the setting of metastatic disease [3].
• Mutations in PAX3 cause Waardenburg syndrome (types 1 and 3), Craniofacial-deafness-hand syndrome and alveolar rhabdomyosarcoma in humans and the Splotch phenotype in mice [4].
• The authors report a case of severe dactinomycin-induced thrombocytopenia in a child with alveolar rhabdomyosarcoma [5].

High impact information on Rhabdomyosarcoma, Alveolar

• Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma [6].
• Polymerase chain reaction analysis demonstrates that a 5'PAX3-3' FKHR chimaeric transcript is expressed in all eight alveolar rhabdomyosarcomas investigated [6].
• Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin [7].
• Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function [8].
• In these mice, alveolar rhabdomyosarcomas occur but at low frequency, and Fkhr haploinsufficiency does not appear to accelerate tumorigenesis [8].

Chemical compound and disease context of Rhabdomyosarcoma, Alveolar

• Metastatic alveolar rhabdomyosarcoma with increased serum creatine kinase MB and cardiac troponin T and normal cardiac troponin I [9].
• Myoblasts were strongly reactive for adenosine triphosphatase at alkaline pH and after acid pre-incubation, whereas the small undifferentiated neoplastic cell of the four alveolar rhabdomyosarcomas showed also discernible cytoplasmic reaction, but only after acid pre-incubation [10].
• An ongoing IRS-IV randomized trial of VAC and VAI should provide a comparison of the efficacy of Ifos and Cyc in children and adolescents with embryonal or alveolar rhabdomyosarcoma and undifferentiated soft-tissue sarcomas [11].
• Multiorgan uptake of Tc-99m MDP in a patient with stage 4 alveolar rhabdomyosarcoma [12].
• Using a long-acting iodinated triglyceride blood-pool contrast agent, we present optimized scanner acquisition parameters and volume-rendering techniques for examining the intermediate and large vessels of complex spontaneous tumors (e.g., alveolar rhabdomyosarcomas) in transgenic mice [13].

Biological context of Rhabdomyosarcoma, Alveolar

• Antisense-mediated reduction in insulin-like growth factor-I receptor expression suppresses the malignant phenotype of a human alveolar rhabdomyosarcoma [14].
• The t(2;13) chromosomal translocation in alveolar rhabdomyosarcoma tumors (ARMS) creates an oncogenic transcriptional activator by fusion of PAX3 DNA binding motifs to a COOH-terminal activation domain derived from the FKHR gene [15].
• Up-regulation of MET but not neural cell adhesion molecule expression by the PAX3-FKHR fusion protein in alveolar rhabdomyosarcoma [16].
• Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma [17].
• Translin recognition site sequences flank chromosome translocation breakpoints in alveolar rhabdomyosarcoma cell lines [18].

Anatomical context of Rhabdomyosarcoma, Alveolar

• Relevance of this model was suggested by verification that three of these genes (IGFBP5, HSIX1, and Slug) were also expressed in alveolar rhabdomyosarcoma cell lines [19].
• These results suggest that Pax3 may suppress the terminal differentiation of migrating limb myoblasts and that the PAX3-forkhead fusion may contribute to the phenotype of alveolar rhabdomyosarcoma by preventing terminal differentiation [20].
• Lack of effective T-lymphocyte response to the PAX3/FKHR translocation area in alveolar rhabdomyosarcoma [21].
• An immuno-histochemical investigation of the presence and localization of myoglobin was performed on cardiac and skeletal muscle tissue and on 9 embryonal and 9 alveolar rhabdomyosarcomas, utilizing an immunoperoxidase technique [22].

Gene context of Rhabdomyosarcoma, Alveolar

• PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma [23].
• Two alveolar rhabdomyosarcomas were found in co-express the ¿two-kringle' alternatively-spliced HGF/Scatter Factor variant, which has been previously shown to stimulate cell motility and matrix invasion in vitro [24].
• Gain-of-function mutations creating fusion proteins consisting of PAX3 or PAX7 and another transcription factor of the forkhead family (FKHR) are associated with alveolar rhabdomyosarcomas [25].
• The current study is the first report of the correlation of E2F-1 with alveolar rhabdomyosarcoma [26].
• This biphenotypic tumor showed simultaneous expression of EWS-FLI1 and PAX3-FKHR transcripts, specific of Ewing family tumors and alveolar rhabdomyosarcoma, respectively [27].

Analytical, diagnostic and therapeutic context of Rhabdomyosarcoma, Alveolar

• Using pulsed-field and fluorescence in situ hybridization analyses, we demonstrate that the 130kb FKHR intron 1 is rearranged in t(2;13)-containing alveolar rhabdomyosarcomas [28].
• Six of seven alveolar rhabdomyosarcomas that strongly stained for myogenin were also positive for Pax3-7/Forkhead (FKHR) by polymerase chain reaction/reverse transcriptase-polymerase chain reaction [2].
• Unusual, intense splenic radioactivity was seen on bone scintigraphy with Tc-99m HMDP in a 14-year-old boy with alveolar rhabdomyosarcoma complicated by disseminated intravascular coagulation [29].

References