Bilateral adrenal neuroblastoma and nephroblastoma occurring synchronously in a child with Fanconi's anemia and VACTERL syndrome

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...

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Bibliographic Details
Published in:Journal of pediatric surgery 2006, Vol.41 (1), p.e11-e14
Main Authors: Berrebi, Dominique, Lebras, Marie-Noelle, Belarbi, Nadia, Couturier, Jérome, Fattet, Sarah, Faye, Albert, Peuchmaur, Michel, de Lagausie, Pascal
Format: Article
Language:English
Subjects:
Adrenal Gland Neoplasms - genetics
Adrenal Gland Neoplasms - pathology
Age of Onset
Fanconi Anemia - complications
Female
Humans
Immunohistochemistry
Infant
Kidney Neoplasms - genetics
Kidney Neoplasms - pathology
Neuroblastoma - genetics
Neuroblastoma - pathology
Proto-Oncogene Proteins c-kit - analysis
Syndrome
Wilms Tumor - genetics
Wilms Tumor - pathology
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Summary: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.
ISSN:0022-3468
1531-5037
DOI:10.1016/j.jpedsurg.2005.10.087