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Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1.

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.

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  • Publisher Full Text

    • Authors

    Chakrapani AL, White CR, Korcheva V, White K, Lofgren S, Zonana J, Moore S, Krol A, Mansoor A

    Institution

    Department of Pathology, Oregon Health and Science University, Portland, OR 97239, USA. Laueran@ohsu.edu

    Source

    The American Journal of dermatopathology 34:6 2012 Aug pg e77-80

    MeSH

    Biopsy
    Chromosomal Proteins, Non-Histone
    Chromosomes, Human, Pair 22
    Combined Modality Therapy
    Comorbidity
    DNA-Binding Proteins
    DiGeorge Syndrome
    Drug Therapy
    Female
    Germ-Line Mutation
    Humans
    Infant
    Radiotherapy
    Rhabdoid Tumor
    Skin
    Skin Neoplasms
    Transcription Factors
    Treatment Outcome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    22814326