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Genetic breakdown in Fanconi anemia may have link to HPV-associated cancer
Date:12/3/2008

CINCINNATI A genetic malfunction that causes DNA instability in people with the blood disorder Fanconi anemia may put them at high risk for squamous cell carcinomas linked to human papillomavirus (HPV), according to a study posted online ahead of print by Oncogene.

Researchers led by Cincinnati Children's Hospital Medical Center report the breakdown of a cell signaling pathway for the FA (Fanconi Anemia) gene complex triggers cellular abnormalities, when then are made worse by HPV cancer genes in skin cells. This opens the door to a high risk of developing squamous cell carcinoma solid tumors, which develop from skin cells, according to the investigators.

Restoring the FA pathway reverses irregular cell growth in HPV positive cells and may reduce cancer risk, the study suggests. FA restoration also may be a potential candidate for therapy, although the researchers cautioned more research is needed before linking the findings to clinical situations.

"We are suggesting that restoring the FA pathway to treat Fanconi anemia-related cancer might be a worthwhile clinical endeavor," said Susanne Wells, Ph.D., a researcher in the division of Hematology/Oncology at Cincinnati Children's and the study's senior investigator. "This study is the first time we've been able to investigate a link between Fanconi anemia-associated cancers and HPV in cells very closely resembling living human skin, adding to the significance of this research."

Fanconi anemia is a rare, inherited genetic instability syndrome that causes aplastic anemia and an often-fatal blood disorder. This leads to bone marrow failure, organ damage and increased susceptibility to cancer. The disorder typically develops in early childhood and the average life span for people with Fanconi anemia is 20 to 30 years.

Although a bone marrow transplant can cure the blood disorder, people with Fanconi anemia remain at risk for solid tumors. The most common is squamou
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Contact: Nick Miller
nicholas.miller@cchmc.org
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

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