6
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

      Genes, Chromosomes & Cancer
      Genes, ras, Germ-Line Mutation, Heart Defects, Congenital, genetics, Hematologic Neoplasms, Heterozygote, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Neoplasms, Noonan Syndrome, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Rhabdomyosarcoma, Embryonal, Uniparental Disomy

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. Furthermore, NS is known for its predisposition to develop cancer, particularly hematological malignancies and specific solid tumors, mainly neuroblastoma and embryonal rhabdomyosacroma (ERMS). Until recently, however, cancer predisposition in NS patients with SOS1 mutations was not reported. Here we present a NS patient with a de novo germline SOS1 mutation (p.Lys728Ile) and ERMS. This heterozygous germline mutation was homozygously present in the ERMS of this patient due to an acquired uniparental disomy (UPD) of chromosome 2. In addition, several other chromosomal aberrations were encountered, some of which are known to recurrently occur in ERMS. Sequence analysis of the SOS1 gene in 20 sporadic ERMS tumors failed to reveal any pathogenic mutations, implicating that SOS1 is not a major player in the development of this tumor outside the context of NS. (c) 2010 Wiley-Liss, Inc.

          Related collections

          Author and article information

          Comments

          Comment on this article