TY - JOUR
T1 - Perianal rhabdomyosarcoma and extreme chemotoxicity in a girl with Nijmegen breakage syndrome
AU - Meyer, S
AU - Kingston, H
AU - Brennan, BMD
AU - Trueman, S
AU - Stecko, O
AU - Kelsey, A
AU - Last, James
AU - Byrd, Philip
AU - Taylor, GM
AU - Taylor, Alexander
AU - Eden, OB
PY - 2004/1/1
Y1 - 2004/1/1
N2 - 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 698de14 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. (C) 2004 Elsevier Inc. All rights reserved.
AB - 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 698de14 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. (C) 2004 Elsevier Inc. All rights reserved.
UR - http://www.scopus.com/inward/record.url?scp=5144230063&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2004.02.022
DO - 10.1016/j.cancergencyto.2004.02.022
M3 - Article
C2 - 15474156
VL - 154
SP - 169
EP - 174
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
ER -