1. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.
- Author
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Meyer S, Kingston H, Taylor AM, Byrd PJ, Last JI, Brennan BM, Trueman S, Kelsey A, Taylor GM, and Eden OB
- Subjects
- Abnormalities, Multiple genetics, Anus Neoplasms diagnosis, Base Sequence, Cell Cycle Proteins genetics, Child, Chromosome Breakage, Facies, Female, Growth Disorders diagnosis, Humans, Karyotyping, Microcephaly genetics, Nuclear Proteins genetics, Sequence Deletion, Syndrome, Abnormalities, Multiple diagnosis, Microcephaly diagnosis, Rhabdomyosarcoma diagnosis, Soft Tissue Neoplasms diagnosis
- 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.
- Published
- 2004
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