title: [Infant rhabdoid tumors: a diagnostic emergency].
abstract: Rhabdoid tumors are a heterogeneous family of aggressive tumors affecting young children. Their grouping within a single entity is recent, following the discovery of a bi-allelic inactivation of the hSNF5/INI1 tumor suppressor gene in tumoral cells. This bi-allelic inactivation of the hSNF5/INI1 gene found at the constitutional level in up to one-third of cases has led to the identification of a predisposal syndrome to rhabdoid tumors. Herein we report extrarenal rhabdoid tumors observed in three infants between 3 and 6 months of age, underlining the misleading feature of the clinical presentation and the aggressiveness of the disease. Finally, we also report the genetic patient care management strategy.
authors.affiliation: Service d'oncologie-hématologie pédiatrique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France. Electronic address: laura_marty@hotmail.fr.
authors.forename: L
authors.initials: L
authors.lastname: Marty
authors.affiliation: Service d'oncologie-hématologie pédiatrique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: A
authors.initials: A
authors.lastname: Cuinet
authors.affiliation: Service de neurochirurgie, CHU Gui-de-Chauliac, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: T
authors.initials: T
authors.lastname: Roujeau
authors.affiliation: Service de radiologie pédiatrique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: O
authors.initials: O
authors.lastname: Prodhomme
authors.affiliation: Service d'oncologie-hématologie pédiatrique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: L
authors.initials: L
authors.lastname: Saumet
authors.affiliation: Service d'oncogénétique clinique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: I
authors.initials: I
authors.lastname: Coupier
authors.affiliation: Service d'oncologie-hématologie pédiatrique, CHU Arnaud-de-Villeneuve, 37, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France.
authors.forename: N
authors.initials: N
authors.lastname: Sirvent
mesh_terms: D000008:Abdominal Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000483:Alleles; D000649:Amniocentesis; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002868:Chromosomal Proteins, Non-Histone; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D004630:Emergencies; D017809:Fatal Outcome; D005260:Female; D016147:Genes, Tumor Suppressor; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008113:Liver Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D018335:Rhabdoid Tumor / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000071796:SMARCB1 Protein; D014157:Transcription Factors; D015533:Transcriptional Activation / Q000235:genetics
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors