Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.
Cancer Genet Cytogenet
; 154(2): 169-74, 2004 Oct 15.
Article
em En
| MEDLINE
| ID: mdl-15474156
ABSTRACT
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder resulting from mutations in the NBS1 gene, which encodes for the DNA double strand break repair protein nibrin. NBS is clinically characterized by microcephaly, dysmorphic features, immunodeficiency, and increased susceptibility to malignancy, mainly of lymphoid origin. Here, we describe a 7-year-old girl with NBS who is homozygous for the NBS1 698del4 mutation. She had been diagnosed with perianal rhabdomyosarcoma (RMS) and experienced severe toxicity from chemotherapy. RMS arising perianally is extremely uncommon but has been previously described in two cases with NBS. The strong association of perianal RMS with NBS should, therefore, be considered when confronted with a perianal RMS, as this carries important clinical implications in terms of potential need for therapy modification and follow up investigations. In addition, it suggests a role for the NBS1 gene and the nibrin dependent pathway in the pathogenesis of RMS, especially those arising perianally.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rabdomiossarcoma
/
Neoplasias de Tecidos Moles
/
Anormalidades Múltiplas
/
Microcefalia
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Cancer Genet Cytogenet
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Reino Unido