title: Primary CIC-DUX4 round cell sarcoma of the kidney: A treatment-refractory tumor with poor outcome.
abstract: The CIC-DUX4 sarcoma is a subset of the undifferentiated small round cell sarcoma family, presently recognized as a new clinicopathological entity. It is a rare and highly aggressive tumor usually arising in the soft parts of the limbs and the trunk. Only a very few cases of primitive visceral CIC-DUX4 have been hitherto described. We report the case of a 29 year-old male patient with a primary CIC-DUX4 sarcoma of the kidney with lung metastasis. The outcome of the disease was rapidly unfavorable. Despite radical nephrectomy, the patient experienced an early local retroperitoneal recurrence associated with lung and liver metastases. The tumor did not respond to four successive lines of chemotherapy nor to palliative radiotherapy. Due to partial morphologic and immunohistochemical overlap with Ewing sarcoma, CIC-DUX4 positive tumors have generally been considered as Ewing-like sarcomas and managed similarly. However, this tumor shows a high propensity to metastasize and is much less sensitive to chemotherapy than Ewing sarcomas. The management of this type of very aggressive sarcoma needs to be defined by comprehensive biological and clinical studies.
authors.affiliation: Service de Chirurgie Urologique, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: bergerat.sebastien@gmail.com.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Bergerat
authors.affiliation: Service d'Hématologie et d'Oncologie, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: philippe.barthelemy@chru-strasbourg.fr.
authors.forename: Philippe
authors.initials: P
authors.lastname: Barthelemy
authors.affiliation: Service de Chirurgie Urologique, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: pascal.mouracade@chru-strasbourg.fr.
authors.forename: Pascal
authors.initials: P
authors.lastname: Mouracade
authors.affiliation: Service de Chirurgie Urologique, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: herve.lang@chru-strasbourg.fr.
authors.forename: Hervé
authors.initials: H
authors.lastname: Lang
authors.affiliation: Service de Chirurgie Urologique, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: christian.saussine@chru-strasbourg.fr.
authors.forename: Christian
authors.initials: C
authors.lastname: Saussine
authors.affiliation: Département de Pathologie, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: veronique.lindner@chru-strasbourg.fr.
authors.forename: Véronique
authors.initials: V
authors.lastname: Lindner
authors.affiliation: Service de Chirurgie Urologique, Centre Hospitalier Universitaire de Strasbourg, 1 Place de l'Hôpital, 67000 Strasbourg, France. Electronic address: didier.jacqmin@chru-strasbourg.fr.
authors.forename: Didier
authors.initials: D
authors.lastname: Jacqmin
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D018398:Homeodomain Proteins / Q000378:metabolism*; D006801:Humans; D007680:Kidney Neoplasms / Q000378:metabolism* / Q000473:pathology / Q000601:surgery; D008175:Lung Neoplasms / Q000378:metabolism* / Q000556:secondary; D008297:Male; D009392:Nephrectomy; D012097:Repressor Proteins / Q000378:metabolism*; D012509:Sarcoma / Q000378:metabolism* / Q000556:secondary / Q000601:surgery
chemical_list: C498610:CIC protein, human; C121257:DUX4L1 protein, human; D018398:Homeodomain Proteins; D012097:Repressor Proteins
keywords: CIC-DUX4; Kidney sarcoma; Small round cell sarcoma