Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

19:45 EDT 3rd July 2015 | BioPortfolio

Summary of "Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?"

Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister died of the disease. The brother survived the HB and was later diagnosed with familial adenomatous polyposis and advanced rectal cancer. He was found to carry a germline mutation of the APC gene. Presuming that the HB in the two siblings was the first manifestation of FAP we performed APC mutation analysis in DNA from archived tumour tissue of his sister and in blood samples of both parents. Surprisingly, the mutation was neither found in both parents, nor in the tissue samples of the sister. We outline the impact of this finding for genetic counselling and review the literature on FAP and HB.

Affiliation

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany, christina.evers@med.uni-heidelberg.de.

Journal Details

This article was published in the following journal.

Name: Familial cancer
ISSN: 1573-7292
Pages:

Links

PubMed Articles [1528 Associated PubMed Articles listed on BioPortfolio]

Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.

The overwhelming majority (approximately 80%) of individuals with classic familial adenomatous polyposis (FAP) exhibit mutations in the coding sequence of the adenomatous polyposis coli (APC) tumor su...

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.

Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hyper...

Desmoids and Genotype in Familial Adenomatous Polyposis.

Desmoid disease can be a serious, life-threatening complication of familial adenomatous polyposis. The ability to predict patients at increased desmoid risk is important, but a convincing genotype-phe...

Mesenchymal Adenomatous Polyposis Coli plays critical and diverse roles in regulating lung development.

Adenomatous Polyposis Coli (Apc) is a tumor suppressor that inhibits Wnt/Ctnnb1. Mutations of Apc will not only lead to familial adenomatous polyposis that is an epithelial lesion, but also cause aggr...

Prophylactic surgery in familial adenomatous polyposis (FAP)-a single surgeon's short- and long-term experience with hand-assisted proctocolectomy and smaller J-pouches.

Prophylactic proctocolectomy with an ileoanal neo-reservoir is the established procedure in non-attenuated familial adenomatous polyposis (FAP). Traditionally, the ileal J-pouch is created by doubling...

Clinical Trials [359 Associated Clinical Trials listed on BioPortfolio]

Use of Curcumin in the Lower Gastrointestinal Tract in Familial Adenomatous Polyposis Patients

The purpose of this study is to assess if curcumin, a commonly used food spice, can regress colorectal adenomatous polyps in patients with familial adenomatous polyposis, an inherited form...

Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP)

To test whether celecoxib can be used to prevent colon polyp formation in children with familial adenomatous polyposis (FAP).

Curcumin in Treating Patients With Familial Adenomatous Polyposis

This clinical trial studies curcumin in treating patients with familial adenomatous polyposis. Curcumin may prevent colorectal cancer in patients with a history of rectal polyps or colorec...

Multimedia Intervention in Patients With Familial Adenomatous Polyposis (FAP)

The goal of this research study is to test the first version of a website that will offer information and support for adolescents and young adults with familial adenomatous polyposis (FAP...

Ursodeoxycholic Acid in the Treatment of Duodenal Adenomas in Familial Adenomatous Polyposis (FAP) Patients

Malignant transformation of adenomas of the duodenum is now the leading cause of death in familial adenomatous polyposis (FAP) patients who had a restorative proctocolectomy. Ursodeoxychol...

Medical and Biotech [MESH] Definitions

Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.

A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.

A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.

A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.

Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.


Advertisement
 

Relevant Topics

Pediatrics
Latest News Clinical Trials Research Drugs Reports Corporate
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Cancer Disease
Latest News Clinical Trials Research Drugs Reports Corporate
Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for the organ or type of cell in which they start - for example, cancer that begins in the colon is called colon cancer; cancer th...

Advertisement
 

Searches Linking to this Article