title: Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature.
abstract: An increased risk of different types of malignancy has been reported in patients with Noonan syndrome (NS). We describe a patient with short stature, dysmorphic features, developmental delay, and congenital cardiomyopathy. At 5 years old, he presented with abdominal pain, constipation, and evaluation with ultrasound and computed tomography scan demonstrated the presence of an abdominal mass. Total resection of the mass and consequent histology revealed an embryonal rhabdomyosarcoma. Rhabdomyosarcoma is a rare tumor in NS patients and to the best of our knowledge only 2 cases have been reported so far. The presentation underlines the importance of frequent follow-up of patients with NS, since the incidence of malignancy is low but existing.
authors.affiliation: Hematology-Oncology Unit, Department of Pediatrics, Medical Genetics Laboratory, University of Athens, and Choremio Research Laboratory, Aghia Sophia Children's Hospital, Athens, Greece. mmoschov@med.uoa.gr
authors.forename: Maria
authors.initials: M
authors.lastname: Moschovi
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Touliatou
authors.forename: Touliatou
authors.initials: T
authors.lastname: Vassiliki
authors.forename: Anna
authors.initials: A
authors.lastname: Papadopoulou
authors.forename: Papadopoulou
authors.initials: P
authors.lastname: Anna
authors.forename: Maria-Alexandra
authors.initials: MA
authors.lastname: Mayakou
authors.forename: Mayakou
authors.initials: M
authors.lastname: Maria-Alexandra
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Nikolaidou-Karpathiou
authors.forename: Nikolaidou-Karpathiou
authors.initials: NK
authors.lastname: Polyxeni
authors.forename: Sophia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Kitsiou-Tzeli
authors.initials: KT
authors.lastname: Sophia
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002675:Child, Preschool; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012074:Remission Induction; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012208:Rhabdomyosarcoma / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome