2011 - NIH Clinical Center - National Institutes of Health

possible trouble spots to only a few. Dr. ClaraChen, deputy chief of the nuclear medicinesection in Radiology and Imaging Sciences,was instrumental in deciphering which markshad potential and which were misleading,Collins said.With an idea of where the tumor may be, next toJones’ right tibia, Dr. Richard Chang, chief of theendocrine and venous services section, threadeda catheter down a vein in Jones’ leg and tookblood samples at different points to test presenceof FGF23.The numbers spiked around the tumor.Jones was at her grandmother’s house whenCollins called with the news.When she heardthey’d found the tumor, she gave her grandmothera thumbs up.“She started screaming, she was sohappy,” Jones remembered.Dr. Felasfa Wodajo, medical director of InovaHealth System’s Musculoskeletal Tumor Programand a consultant to the National Cancer Institute,removed the tumor in August. Recurrence is rare,especially when a large margin of surroundingtissue is removed, as was done with Jones.She is back in Washington, returning to life asa healthy teen.“I’m back on my swim team,which I really love,” she said.“I can walk in thehall without being worried about knocking intosomething.”The end result wasn’t due to fancy science, Collinssaid, just the meticulous, rigorous teamwork thatoccurs at the CC. “How often in medicine doyou get a chance to really cure someone? Thatwas fantastic.”Study could improve care forrare immune diseaseNIH investigators have observed that the survivalrate of people with a rare immunodeficiencydisease called chronic granulomatous disease(CGD) is greatly improved when even very lowlevels of microbe-killing molecules are present.Because production of these molecules, made by anenzyme called NADPH oxidase, can be predictedfrom genetic analysis, a patient’s risk for severeCGD could be assessed very early in life, allowingfor more personalized treatment, say the researchers.The study was conducted at the Clinical Centerand led by researchers from the National Instituteof Allergy and Infectious Diseases and their associatedlabs at SAIC-Frederick Inc.The study is availableonline in the New England Journal of Medicine.“Advances in treatment of CGD have made itpossible for people with this once-fatal disease ofearly childhood to survive into adulthood; however,the disease remains difficult to manage,” saidNIAID Director Dr.Anthony S. Fauci.“Having amarker to help predict disease prognosis will enablephysicians to recommend treatment optionsthat are more tailored to the needs of individualpatients.”People with CGD have increased susceptibilityto infections caused by certain bacteria and fungi.They can have abscesses in the lungs, liver, spleen,bones, or skin.Those with severe disease also canhave tissue masses, called granulomas, that can obstructthe bowel or urinary tract. CGD affects anestimated 1,200 people in the United States andapproximately 25,000 people worldwide.The disease is caused by inherited mutations inany one of five different genes required by immunecells to make the NADPH oxidase enzyme,which in turn makes superoxide, an oxygenderivedmolecule that immune cells use to destroyharmful bacteria and fungi.All CGD patients haveimpaired superoxide production, but some makea little superoxide, while others make none.Theresearch team found that the level of superoxideproduction was linked to the type of mutation inthe NADPH oxidase gene, and that the more superoxidea patient with CGD can make, the betterthe life expectancy.Until now, the severity of CGD has been linkedonly to how people inherit the NADPH oxidasegene mutation. If people inherit the mutation asan autosomal recessive trait, meaning that twocopies of the abnormal gene, one from each parent,are present, the disease has generally been lesssevere than in those who inherit the mutation asANNUAL REPORT 2011• 35