Discoveries
Genetic cause of childhood kidney tumor is discovered
A routine check-up on a young cancer survivor has prompted the discovery of a gene responsible for a childhood form of papillary renal cell carcinoma (PRCC), a kidney tumor.
Collaborating to find causes of kidney tumors are David E. Fisher, MD, PhD, (left) and Ian Davis MD, PhD.
The finding was triggered when the patient's Dana-Farber doctor, David E. Fisher, MD, PhD, checked the pathology report on the youngster's tumor. It showed her tumor cells had an abnormality on chromosome 6. Most physicians might not have thought it very noteworthy, but Fisher knew from his previous research that chromosome 6 is the home address of a gene known as TFEB. He also knew that TFEB is closely related to TFE3, a gene that scientists had found to be "translocated" — far out of normal position — in several cases of PRCC.
To find out if a TFEB mutation was indeed linked to the tumor, Ian Davis, MD, PhD, of Fisher's lab performed a battery of molecular tests on the patient's cancer cells. He found that the gene was split apart, with its main region fused to the "control portion" — the on-off switch — of a gene on a completely different chromosome. The error apparently causes TFEB to malfunction and leads cells to become cancerous.
"The discovery of this oncogene [a cancer-causing gene] is an example of research that encompasses the clinic as well as the laboratory," remarks Fisher, who worked on the project with colleagues at Children's Hospital Boston, Brigham and Women's Hospital, Memorial Sloan-Kettering Cancer Center, and Johns Hopkins University. "By bridging these two areas, we've made a connection that may result in better diagnosis and treatment of children with this disease."
