[Rhadboid tumours: hSNF/INI1 deficient cancers of early childhood with aggressive behaviour].
Rhabdoid tumours are rare aggressive tumours of infancy. The definition classically relies on a characteristic morphology and the inactivation of the hSNF5/INI1 tumour suppressor gene. This entity includes central nervous system tumours (ATRT), renal tumours (RTK) and soft-part tumours. Their rarity and morphological pleomorphism make the diagnosis often challenging. However, the recently introduced immunohistochemistry with anti-INI1 (anti-SMARCB1) antibody is a very useful diagnostic tool. Deletions at the 22q11.2 locus and mutations in hSNF5/INI1 sequence must be investigated in order to confirm the diagnosis and to give insights on a presumable germline mutation. Indeed, a predisposition may be found in up to 30% of cases. The treatment is based on aggressive chemotherapy, surgery and irradiation. The prognosis remains poor and the survival rate is below 30%, whatever the anatomic location. Understanding the role of hSNF5/INI1 within the SWI-SNF complex for the epigenetic regulation of transcription might drive the future targeted therapies.
Bourdeaut
F
F
CHU de Nantes, Service d'Oncohématologie, 4 Quai Moncousu, 44000 Nantes Cedex, France. Franck.bourdeaut@curie.fr
Dufour
C
C
Delattre
O
O
D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000628:therapy; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics* / Q000378:metabolism; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D020868:Gene Silencing; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000628:therapy; D008113:Liver Neoplasms / Q000175:diagnosis / Q000628:therapy; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D018335:Rhabdoid Tumor / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D000071796:SMARCB1 Protein; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D009396:Wilms Tumor / Q000175:diagnosis / Q000628:therapy
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors