Pediatrics Now - Practical Health Information for Today's Busy Families Dr. Gwenn Schurgin O'Keefe MD F.A.A.P
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Ask Dr. Gwenn

December 2007

Neuroblastoma: Screening and Hereditary

Q)

Hello,

 

I just saw your column in Parents and Kids, and I was surprised to see anything about neuroblastoma. This is how my brother died in 1970 at the age of 9, after only being diagnosed a year before, which I know the age is over the average.

 

I am the youngest of 4 children (my brother was #3) and the only one with children, their ages are almost 2 and 3.8. My question is if there are any hereditary links with this pediatric cancer. The only information I have found is on the March of Dimes site, but I will try those listed in your column.

 

I have had a varying reaction from my pediatricians when I consistently ask about screening tests for this cancer. I have had some urine tests done when I consulted an oncologist (I forget the name of whatever is often found in the urine of children with neuroblastoma).

 

Anyway, thanks for listening.

 

MD

Boxford MA

 

 

A)

Dear MD:

 

Thank you for your letter. I’m sorry to hear about your brother and can understand why you would want as much information as you can find to ensure the health of your own kids.

 

Most neuroblastoma is not thought to be hereditary but there is a form which is. In those families, there is a history of many infants having neuroblastoma. This is called the “familial” form and represents only 1-2% of all neuroblastoma cases according to the Amercian Cancer Society.

 

As for screening, there is a urine test as you mentioned that detects the by-products of the neuroblastoma tumor but that test is not felt to be a very reliable screening tool in that it does not allow for early enough diagnosis to change the prognosis. Here’s a link for more information on that test.

Genetic blood tests are also being explored as screening tests but so far have also been found to be unreliable. The biggest hurdle is that while tumor markers exist and can be detected, researches have yet to find a way to detect those markers in the blood early enough to impact diagnosis and prognosis. This is unlike the situation for prostate cancer where PSA can be detected very early, for example.

The other issue with genetic screening for neuroblastoma is there seems to exist what is a called a "second hit" theory. The idea is that it is not the genetic marker per se that causes the neuroblastoma but having that marker then being exposed to something else in the environment.


This is the latest information on neuroblastoma screening and hereditary.  I hope this helps give you peace of mind as you enter the holiday season.

 

 

Best,

Dr. Gwenn


 

 

 

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