Abstract
Extrarenal rhabdoid tumor is a rare malignancy of infants and children, typically presenting in the soft tissue of deep, axial locations. We describe a rare dermal presentation of congenital extrarenal rhabdoid tumor in the left paraspinal region of a 6-month-old girl with germline deletion of chromosome 22q11.21q11.23. This case demonstrates that like other rhabdoid tumors, the SMARCB1 gene is also responsible for cutaneous extrarenal rhabdoid tumor oncogenesis.
MeSH terms
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Biopsy
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Chromosomal Proteins, Non-Histone / genetics
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Chromosomal Proteins, Non-Histone / physiology*
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Chromosomes, Human, Pair 22 / genetics
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Combined Modality Therapy
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Comorbidity
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / physiology*
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DiGeorge Syndrome / epidemiology
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DiGeorge Syndrome / physiopathology*
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Drug Therapy
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Female
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Germ-Line Mutation / genetics
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Humans
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Infant
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Radiotherapy
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Rhabdoid Tumor / congenital*
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Rhabdoid Tumor / epidemiology
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Rhabdoid Tumor / physiopathology*
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SMARCB1 Protein
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Skin / pathology
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Skin Neoplasms / congenital*
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Skin Neoplasms / epidemiology
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Skin Neoplasms / physiopathology*
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Transcription Factors / genetics
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Transcription Factors / physiology*
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Treatment Outcome
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