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.
MeSH terms
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Antineoplastic Combined Chemotherapy Protocols / therapeutic use
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Biomarkers, Tumor / analysis
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Biomarkers, Tumor / genetics
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Biopsy
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Brain Neoplasms / chemistry
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Brain Neoplasms / drug therapy
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Brain Neoplasms / genetics
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Brain Neoplasms / pathology*
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Chromosomal Proteins, Non-Histone / analysis
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Chromosomal Proteins, Non-Histone / genetics
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DNA Mutational Analysis
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DNA-Binding Proteins / analysis
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DNA-Binding Proteins / genetics
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Genetic Predisposition to Disease
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Humans
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Immunohistochemistry
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Infant, Newborn
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Male
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Mutation
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Predictive Value of Tests
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Rhabdoid Tumor / chemistry
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Rhabdoid Tumor / drug therapy
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / secondary*
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SMARCB1 Protein
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Skin Neoplasms / chemistry
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Skin Neoplasms / drug therapy
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Skin Neoplasms / genetics
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Skin Neoplasms / secondary*
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Teratoma / chemistry
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Teratoma / drug therapy
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Teratoma / genetics
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Teratoma / secondary*
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Time Factors
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Transcription Factors / analysis
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Transcription Factors / genetics
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Treatment Outcome
Substances
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Biomarkers, Tumor
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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