title: Cutaneous location of atypical teratoid/rhabdoid tumour.
abstract: Atypical teratoid/rhabdoid tumour is a rare and highly malignant tumour of the posterior fossae nervous system that occurs in children especially in the first few years of life. Cutaneous location is not previously reported. A newborn boy was referred for both aqueductal stenosis detected antenatally and skin tags mimicking hamartoma. The cerebral tumour increased in size during a few months leading to both skin and cerebral biopsies. Integrase Interactor-1 (INI-1) immunostaining and tumoural and leukocytes INI-1 gene sequencing confirmed the atypical teratoid/rhabdoid tumour nature of the cerebral tumour. INI-1 immunostaining in skin biopsy confirmed the dermal location of rhabdoid tumour. Thus, unusual cutaneous lesions may be part of atypical teratoid/rhabdoid tumour. The loss of Integrase INI-1 on immunohistochemical staining is characteristic.
authors.affiliation: Department of Dermatology, Descartes-Paris V University, Necker-Enfants Malades Hospital, Paris, France.
authors.forename: Nathalia
authors.initials: N
authors.lastname: Bellon
authors.forename: Sylvie
authors.initials: S
authors.lastname: Fraitag
authors.forename: Catherine
authors.initials: C
authors.lastname: Miquel
authors.forename: Laurent J
authors.initials: LJ
authors.lastname: Salomon
authors.forename: Franck
authors.initials: F
authors.lastname: Bourdeaut
authors.forename: Christine
authors.initials: C
authors.lastname: Bodemer
authors.forename: Thomas
authors.initials: T
authors.lastname: Roujeau
authors.forename: Michel
authors.initials: M
authors.lastname: Zerah
authors.forename: Smail
authors.initials: S
authors.lastname: Hadj-Rabia
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D001932:Brain Neoplasms / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D002868:Chromosomal Proteins, Non-Histone / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011237:Predictive Value of Tests; D018335:Rhabdoid Tumor / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics / Q000556:secondary*; D000071796:SMARCB1 Protein; D012878:Skin Neoplasms / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics / Q000556:secondary*; D013724:Teratoma / Q000737:chemistry / Q000188:drug therapy / Q000235:genetics / Q000556:secondary*; D013997:Time Factors; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors