Scientists report discovery of cancer-causing gene in childhood kidney tumor

BOSTON -- In a discovery sparked by a routine check-up of a young cancer survivor, researchers at Dana-Farber Cancer Institute and Children's Hospital Boston have identified a gene responsible for a childhood form of the kidney tumor papillary renal cell carcinoma (PRCC).

Writing in the Proceedings of the National Academy of Sciences, the research team reports that when a gene called TFEB is split off from its chemical "throttle," the gene becomes overactive in PRCC cells. The disease is considered one of the more difficult childhood tumors to treat, because other than surgery, no therapy has been found effective, and scientists don't have a good understanding of the tumor's molecular origins. The study will be published on the journal's website, www.pnas.org, during the week of April 28.

"The discovery of this oncogene [or cancer-causing gene] is an example of research that encompasses the clinic as well as the laboratory," says the study's senior author, David Fisher, MD, PhD, an oncologist at Dana-Farber and Children's. "By bridging these two areas, we've made a connection that may result in better diagnosis and treatment of people with this disease, demonstrating the potential and importance of translational research."

The discovery grew out of the Dana-Farber team's previous research into MITF, a gene that controls the activity of a group of genes in skin cells known as melanocytes. Fisher and his colleagues identified several of these target genes, which are used as "markers" in blood tests for diagnosing whether an individual has the skin cancer melanoma.

Several years ago, the researchers discovered that MITF is one of a family of genes that plays similar roles in different types of cells. Three other genes in this family are called TFE3, TFEB, and TFEC.

In recent years, scientists have found several cases of papillary renal cell carcinoma in which TFE3 was fused abnormally to

Contact: Bill Schaller
Dana-Farber Cancer Institute

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