Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.020 GeneticVariation disease BEFREE Alveolar soft part sarcoma (ASPS) is a rare malignancy with high rates of metastasis at presentation, defined by an unclear cellular origin and a unique unbalanced ASPSCR1-TFE3 translocation (der(17)t(X:17)(p11:q25)).<sup>1</sup> ASPS is insensitive to chemotherapy and has been reported to involve the bladder only twice in the pediatric literature; once as a primary malignancy,<sup>2</sup> and once as a secondary malignancy after cytotoxic chemotherapy.<sup>3</sup> Herein, we report the third case of pediatric bladder ASPS in a female patient who received cytotoxic chemotherapy for low-risk neuroblastoma. 30986487 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.020 Biomarker disease BEFREE Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma. 19606011 2009