Alex's Lemonade Stand Foundation for Childhood Cancer

Most newborns in the United States undergo "heel-stick" testing within a few days of birth. The blood collected is for newborn screening (NBS), detecting diseases important to diagnose early; cancer risk is not currently part of NBS. Children with a cancer of the retina, retinoblastoma, often have an abnormal copy of a gene called RB1, which can be detected in a heel-stick test. These children, or "carriers," have a 90% or more chance of developing retinoblastoma, usually in both eyes and in the first years of life.

NUT carcinoma is an aggressive cancer with a devasting prognosis. It is almost always fatal, with survival measured in months to – at best – two years. This cancer can be diagnosed in children of all ages – from infants to teenagers. NUT carcinoma tumors most often occur in the chest, but can also be found in the head, neck, bones, or soft tissue. NUT carcinoma tumors are caused by a genetic event in which two chromosomes break in half, swap halves, and then fuse back together. This results in a gene fusion that adds a segment of the protein “NUT” to a segment of the protein “BRD4”.

A deadly complication known as hematopoietic stem cell transplantation-associated thrombotic microangiopathy (HSCT-TMA) can occur after bone marrow transplant, a curative therapy for malignancy. HSCT-TMA results in injury to small blood vessels throughout the body, preventing red blood cells from delivering oxygen to tissues. This can damage multiple organs, especially the kidneys. The cause of the disorder is unknown and there are limited effective drug therapies, making diagnosis and treatment difficult.

Pediatric high-grade gliomas (pHGG) are very aggressive brain tumors with poor prognosis. Unfortunately, clinical trials in the last few decades have failed to produce treatments that work for this cancer. One of the reasons for the lack of good treatments is that not all cells in a tumor are equal, and current treatments are not able to kill the most important cells for pHGG. In fact, we now know that only some cells have the characteristics required to fuel tomorrow growth. We now have applied a technique that allows usto look at single cells in tumors.

Mentor Name: Andras Heczey