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.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.
MeSH terms
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Abdominal Neoplasms / diagnosis*
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Abdominal Neoplasms / genetics
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Abdominal Neoplasms / therapy
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Alleles
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Amniocentesis
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Brain Neoplasms / diagnosis
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Brain Neoplasms / genetics
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Brain Neoplasms / therapy
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Chromosomal Proteins, Non-Histone
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Combined Modality Therapy
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DNA Mutational Analysis
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DNA-Binding Proteins
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Emergencies*
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Fatal Outcome
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Female
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Genes, Tumor Suppressor
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Genetic Counseling
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Humans
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Infant
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Liver Neoplasms / diagnosis*
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Liver Neoplasms / genetics
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Liver Neoplasms / therapy
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Magnetic Resonance Imaging
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Male
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Pregnancy
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Rhabdoid Tumor / diagnosis*
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / therapy
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SMARCB1 Protein
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Transcription Factors
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Transcriptional Activation / genetics
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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SMARCB1 Protein
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SMARCB1 protein, human
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Transcription Factors