Bone marrow aspiration and biopsy

During a bone marrow aspiration and biopsy, the doctor removes tissues or cells from the bone marrow so
they can be tested in a lab. A bone marrow aspiration and biopsy may be used to see if neuroblastoma has
spread to the bone marrow. Usually the bone marrow tests are performed from both sides.

Find out more about bone marrow aspiration and biopsy.

Lymph node exam and biopsy

Doctors usually examine and take biopsy samples of enlarged lymph nodes. They will use a CT scan to get a
3D image of lymph nodes that they can’t feel. This helps doctors decide whether or not to biopsy the lymph
nodes.

A lymph node biopsy may be done if an enlarged lymph node is the only possible area where the tumour has
spread or if it would be difficult or risky to biopsy the primary tumour.

Core needle biopsy may be used to remove tissue from a lymph node. The doctor uses a needle to collect a
sample from the lymph node.

Incisional biopsy is a type of surgical biopsy. It may be used to remove part of a lymph node so it can be
examined.

Excisional biopsy is another type of surgical biopsy. It may be done to remove the entire lymph node so it
can be examined. This is the most common type of biopsy used to check lymph nodes for neuroblastoma. It
can be done at the time of surgery to remove or biopsy the main tumour.

Find out more about core needle biopsy and surgical biopsy.

Molecular genetic methods

Molecular genetic methods are used in combination with cell and tissue studies. They look at abnormalities in
chromosomes (the part of a cell that contains genetic information) or the DNA of cells and tissue. Doctors
use these methods to identify changes to the chromosomes and genes, such as duplications, translocations,
mutations and deletions.

For neuroblastoma, molecular studies can be very important in helping doctors to predict outcomes and to
determine what treatment is needed. One of the most important studies determines if the neuroblastoma
cells have amplification (many copies) of the MYCN gene, which is an oncogene (a gene that can cause
cancer). Molecular studies can also show DNA ploidy (the amount of DNA content), and look at the pattern of
changes across all of the chromosomes in the neuroblastoma cells. These changes can be losses or gains
(fewer or more copies) of whole chromosomes (called numerical chromosomal aberrations) or losses or gains
of just parts of individual chromosomes (called segmental chromosomal aberrations). The neuroblastoma
cells may also be tested for mutations in specific genes. One example is the ALK gene, since neuroblastomas
that have mutations in this gene may respond to specific medicines called ALK inhibitors.