title: Primary low-grade fibromyxoid sarcoma of the kidney in a child with the alternative EWSR1-CREB3L1 gene fusion.
abstract: We present the case of a 6-year-old boy with a deceptively bland spindle cell renal neoplasm found to harbor the EWSR1-CREB3L1 gene fusion. This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes. LGFMS is an indolent tumor with late metastatic potential and a propensity for long-term disease recurrence. The tumor is rare in children, with only 33 published cases. In the pediatric population, it has not previously been reported arising in the kidney.
authors.affiliation: 1  Department of General Surgery, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Jill C
authors.initials: JC
authors.lastname: Rubinstein
authors.forename: Arjun
authors.initials: A
authors.lastname: Visa
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.forename: Cristina R
authors.initials: CR
authors.lastname: Antonescu
authors.forename: Emily R
authors.initials: ER
authors.lastname: Christison-Lagay
authors.forename: Raffaella
authors.initials: R
authors.lastname: Morotti
mesh_terms: D001706:Biopsy; D002648:Child; D005350:Fibroma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D050939:Gene Fusion; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D060787:Neoplasm Grading; D009392:Nephrectomy; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010641:Phenotype; D012509:Sarcoma / Q000235:genetics* / Q000473:pathology
chemical_list: C574775:EWSR1-CREB1 fusion protein, human; D015514:Oncogene Proteins, Fusion
keywords: EWSR1-CREB3L1 fusion; low-grade fibromyxoid sarcoma; pediatric; renal