Genetic find means hope

    Earlier this week scientists at the Children’s Hospital of Philadelphia revealed the genetic cause of childhood neuroblastoma — a rare and often fatal cancer. It’s a major advance in fighting a cancer with few patients and even fewer researchers. From WHYY’s health and science desk Kerry Grens explores what the discovery means for families.

    Earlier this week scientists at the Children’s Hospital of Philadelphia revealed the genetic cause of childhood neuroblastoma — a rare and often fatal cancer. It’s a major advance in fighting a cancer with few patients and even fewer researchers. From WHYY’s health and science desk Kerry Grens explores what the discovery means for families. Maiken Scott also contributed to this story.

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    Childhood Lost and Found

    Transcript:

    Many parents can rattle off the dates of the milestones in their child’s life. For Jan Kaper those milestones revolve around her daughter Sara’s cancer.

    Kaper: Sara was diagnosed in July of 2004 with stage 4 neuroblastoma. She received treatment at DuVos Children’s Hospital in Grand Rapids from July 2004 until November of 2005. And at that time she still had disease showing up, but it was stable.

    Neuroblastoma is a cancer of the nervous system. It’s extremely rare — just 600 Americans are diagnosed annually, but it’s the most common cancer in infants under the age of one. Within a year of getting a stable diagnosis, Sara Kaper’s mother says, the symptoms returned.

    Kaper: She started showing symptoms with tight hamstrings and pain in her legs. And bowel and bladder issues. And so they were testing her and looking for the cause of her problems and didn’t find it until May of 2007 when they found a tumor growing in her sacrum.

    Sara’s relapse brought the Kapers from Michigan to Pennsylvania for treatment at the Children’s Hospital of Philadelphia, or CHoP – and they fly in every six weeks for a visit. CHoP has a large program specifically for children who suffer a relapse. Yael Mosse is Sara’s doctor there.

    Mosse: For patients who have high risk neuroblastoma who receive the standard of care and suffer a relapse in the year 2008 there is no known cure for this really tragic situation.

    With no cure available, doctors treat neuroblastoma as a chronic disease. Sara’s long term prognosis is not positive, but Mosse says she’s doing well on an experimental drug. And without the trauma of chemotherapy, Sara’s been able to enjoy her summer.

    Sara: We went camping, we went to our cottage, and I don’t know the rest so you can ask my mom.

    The experimental drug that seems to be stalling Sara Kaper’s neuroblastoma is not a long term solution, says Mosse.

    Mosse: The path forward for children like Sara who suffer a relapse is that they move from one investigational therapy to the next and they stay on the therapy as long as they tolerate the drug and as long as this therapy is able to keep their disease quiet.

    Mosse and her colleagues have been searching for the genetic causes of neuroblastoma — in the hopes of targeting the genes responsible with a more specific therapy.

    Mosse: The majority of investigational drugs that these patients are enrolled on are not developed specifically for neuroblastoma. They’re really just developed specifically for cancer cells in general.

    This week in the journal Nature Mosse’s group named a genetic culprit — called alk.

    Mosse: In all of our families we were able to find mutations in the gene and were able to really pinpoint the actual cause of this disease.

    Look: This is especially exicting for me, because actually in my lab we discovered the alk gene in 1994.

    Thomas Look is the vice chair for research in pediatrics at the Dana Farber Cancer Institute in Massachusetts. Since his discovery of alk he has been studying the gene’s role in lymphoma — and developing drugs to block the gene’s activity. Now his work can be applied to neuroblastoma.

    Look: That’s probably one of the most exciting aspects of this story. Often when mutations are found, the way to treat them is not so clear. But in this case, there are drugs just entering the clinic now that could potentially interfere with the function of the mutated alk kinase.

    Mosse is taking advantage of these drugs already in development — and plans on starting clinical trials for children with neuroblastoma in the next six months. There are still years of work left to know whether the drug for the mutant alk gene is safe and effective. In the meantime, there are other ways to use Mosse’s findings, says Ayappan Rajasekaran, the director for childhood cancer research at the A I DuPont Hospital for Children in Wilmington.

    Rajasekaran: It’s a nice early diagnostic biomarker for children, the neuroblastoma in children. Now a genetic screen for this neuroblastoma is possible.

    Such a screen could help diagnose the cancer earlier, before it’s already progressed to a critical stage as in Sara Kaper’s case. For her mother Jan Kaper, she has her own hopes for Mosse’s research.

    Kaper: I’m hoping that eventually this leads to a cure. That they can say that Sara is cured of this. And maybe she can do something great in this world, too.

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