Restricted accessResearch articleFirst published online 2009-11
Could APC Gene Screening be Useful in Children with Hepatoblastoma? Early Onset of Adenocarcinoma in a Child with Familial Adenomatous Polyposis and Hepatoblastoma
Familial adenomatous polyposis is an inherited disorder characterized by the development of hundreds of colorectal adenomas during adolescence, which in many cases will transform into colorectal cancer by the fourth decade of life, along with the development of various malignant tumors including hepatoblastoma. We report on a female patient with a de novo interstitial deletion of 5q21.3-q23.3, encompassing the APC gene, associated with adenomatous polyposis and early colorectal cancer, hepatoblastoma, epidermoid cysts, mental retardation, several mild dysmorphic signs and lower limb venous thrombosis.
BülowS.: Results of national registration of familial adenomatous polyposis.Gut, 52: 742–746, 2003.
3.
FriedlW., CaspariR., SengtellerM., UhlhaasS., LambertiC., JungckM., KadmonM., WolfM., FahnenstichJ., GebertJ., MösleinG., MangoldE., ProppingP.: Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.Gut, 48: 515–521, 2001.
4.
NishishoI., NakamuraY., MiyoshiY., MikiY., AndoH., HoriiA., KoyamaK., UtsunomiyaJ., BabaS., HedgeP.: Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.Science, 253: 665–669, 1991.
5.
CettaF., MontaltoG., PetracciM.: Hepatoblastoma and APC gene mutation in familial adenomatous polyposis.Gut, 41: 417, 1997.
6.
HughesL.J., MichelsV.V.: Risk oh hepatoblastoma in familial adenomatous polyposis.Am J Med Genet, 43: 1023–1025, 1992.
7.
HockeyK.A., MulcahyM.T., MontgomeryP., LevittS.: Deletion of chromosome 5q and familial adenomatous polyposis.J Med Genet, 26: 61–62, 1989.
8.
KurahashiH., TakamiK., OueT., KusafukaT., OkadaA., TawaA., OkadaS., NishishoI.: Biallelic inactivation of the APC gene in hepatoblastoma.Cancer Res, 55: 5007–5011, 1995.
9.
AretzS., KochA., UhlhaasS., FriedlW., ProppingP., von SchweinitzD., PietschT.: Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?Pediatr Blood Cancer, 47: 811–818, 2006.
10.
HarveyJ., ClarkS., HyerW., HadzicN., TomlinsonI., HindsR.: Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma.J Pediatr Gastroenterol Nutr, 47: 675–677, 2008.
11.
WinawerS., FletcherR., RexD., BondJ., BurtR., FerrucciJ., GaniatsT., LevinT., WoolfS., JohnsonD., KirkL., LitinS., SimmangC.: Colorectal cancer screening and surveillance: clinical guidelines and rationale-Update based on new evidence.Gastroenterology, 124: 544–560, 2003.
12.
RaedleJ., FriedlW., EngelsH., KoenigR., TrojanJ., ZeuzemS.: A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.Am J Gastroenterol, 96: 3016–3020, 2001.
13.
BennettR.L., KarayiorgouM., SobinC.A., NorwoodT.H., KayM.A.: Identification of an interstitial deletion in an adult female with schizophrenia, mental retardation, and dysmorphic features: further support for a putative schizophrenia-susceptibility locus at 5q21-23.1.Am J Hum Genet, 61: 1450–1454, 1997.
14.
Garcia-MiñaurS., RamsayJ., GraceE., MinnsR.A., MylesL.M., FitzPatrickD.R.: Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.Am J Med Genet A, 132: 402–410, 2005.
15.
HerreraL., KakatiS., GibasL., PietrzakE., SandbergA.A.: Gardner syndrome in a man with an interstitial deletion of 5q.Am J Med Genet, 25: 473–476, 1986.
