Title
Renal Tumors Classification, Biology, and Banking Study

Description
If you take part in this study, we will collect 2 teaspoonfuls of blood, which will be
shipped to a COG laboratory. DNA (genetic material) will be isolated from the blood
cells and stored in a test tube with only the code number. This parental DNA will only be
used for INI1 testing if your child's DNA has the INI1 mutation.


Your DNA will not be used for any other research purposes. The specimen will be
stored in a refrigerator and discarded at the end of the research. We will not ask you for
a second blood donation. The results of these research tests will not affect your child's
treatment.

The results of the INI1 testing will not affect your child's treatment. However, if you are or your child is found to carry the INI1 mutation in normal cells, this knowledge may be useful in telling whether other family
members are at risk for rhabdoid tumor.
Receiving this genetic information may be emotionally difficult and it is possible that the
INI1 test results could affect your ability to get life or health insurance. You are therefore
given the choice of whether you want to be notified of the INI1 test results. Click here for more info

Objective
Study doctors have found that many malignant rhabdoid tumors contain genetic changes, called mutations, which turn-off a gene called INI1 (also called SNF5 or SMARCB1). In these tumors, we think the loss of this gene is connected to the
development of the tumor. However, it is not known whether such a mutation affects how the tumor grows or responds to chemotherapy drugs. The overall objective of this study is to determine what percentage of rhabdoid tumors has mutations of the INI1 gene. The study also seeks to compare the behavior of tumors with and without
mutations of the INI1 gene.


There are two different ways this INI1 change can occur:


1) Sometimes the INI1 mutation is only found in the tumor cells and not in the normal
cells of the body. This means that the mutation took place in the tumor cells only.


2) Sometimes the INI1 mutation is present in both the tumor cells and the normal body
cells. If the INI1 mutation is present in both the tumor cells and normal body cells, it
usually means that the mutation occurred at an early stage of development before birth.
It also is possible that one of the parents has the mutation in their body cells and
passed this genetic information to the child.


We want to find out how often these different situations occur so that we can better
advise families in the future about risks of their other children developing a similar
tumor. We also want to find out if tumors behave differently depending on when the
mutation develops. With your consent, the tumor tissue and blood that was collected
when your child enrolled on AREN03B2 will be tested for the INI1 mutation. The blood
will be used to see if your child's normal cells have the INI1 mutation only if the INI1
mutation is found in the tumor. If the mutation is found in the blood sample we would
then like to test DNA from both parents to see if either of them has the mutation. We will
do this by taking a blood sample from each parent.

Treatment

Key Eligibility
Patients with first occurrence of any tumor of the kidney identified on CT or MRI are eligible for this study. Histologic diagnosis is not required prior to enrollment but is required for all patients once on study.
Patients with extrarenal nephroblastoma or malignant rhabdoid tumor occurring anywhere outside the center nervous system are also eligible.
Patients must be < 30 years old at time of diagnosis.

Applicable Disease Sites
Kidney

Participating Institutions
Gundersen Health System; UW Health University Hospital