title: Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi's anemia and VACTERL syndrome.
abstract: Fanconi's anemia (FA) is an autosomal recessive inherited syndrome with a predisposition to malignancy. The association between FA and solid pediatric tumors is extremely rare. The authors report a rare case of VACTERL syndrome associated with FA and multiple solid pediatric tumors occurring in a very young girl. This child had numerous congenital anomalies (horseshoe kidney, cerebella hypoplasia, microcephaly, sacral agenesis) and esophageal atresia, which was repaired in neonatal period. Such association led quickly to the diagnosis of FA. At age of 11 months, she developed simultaneously a renal tumor in a horseshoe kidney and bilateral adrenal tumors. The left adrenal mass was removed, and partial nephrectomy was performed. Histological analysis concluded to adrenal neuroblastoma and nephroblastoma. We also evaluated the c-kit expression in these tumors to propose a therapeutic alternative to chemotherapy by oral agent STI-571 (Gleevec; Novartis, East Hanover, NJ). Strong cytoplasmic immunostaining of c-kit was found in both tumors. Unfortunately, she quickly developed a posterior cerebellar fossa tumor and died 1 month later. This clinical situation is very rare but suggests that young patients with FA and solid pediatric tumors may belong to a particular subgroup of FA. Further studies are necessary to test if STI-571 treatment could be efficient in such patients with pediatric tumors.
authors.affiliation: Services d'Anatomie et de Cytologie pathologiques et EA3102, Hôpital Robert Debré, 75019 Paris, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Berrebi
authors.forename: Marie-Noelle
authors.initials: MN
authors.lastname: Lebras
authors.forename: Nadia
authors.initials: N
authors.lastname: Belarbi
authors.forename: Jérome
authors.initials: J
authors.lastname: Couturier
authors.forename: Sarah
authors.initials: S
authors.lastname: Fattet
authors.forename: Albert
authors.initials: A
authors.lastname: Faye
authors.forename: Michel
authors.initials: M
authors.lastname: Peuchmaur
authors.forename: Pascal
authors.initials: P
authors.lastname: de Lagausie
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology*; D017668:Age of Onset; D005199:Fanconi Anemia / Q000150:complications*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology*; D009447:Neuroblastoma / Q000235:genetics / Q000473:pathology*; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis; D013577:Syndrome; D009396:Wilms Tumor / Q000235:genetics / Q000473:pathology*
chemical_list: D019009:Proto-Oncogene Proteins c-kit