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Is neuroblastoma hereditary?

There are different types of cancerous tumors, depending on several aspects: where they develop, the causes, the tissue they affect, etc. In this case, we will talk about neuroblastoma, a cancer in immature nerve cells found in different body parts. 

It’s a malignant neoplasm that originates in the sympathetic nervous system when young neuroblasts grow uncontrollably and form a tumor. It usually occurs in the adrenal glands, neck, thorax, and spinal cord [1]. It mainly affects children under five, accounting for 10% of childhood cancers [2]. 

There are three types of neuroblastoma depending on risk [3]:

  • Low-risk neuroblastoma. 
  • Intermediate-risk neuroblastoma.
  • High-risk neuroblastoma.
neuroblastoma symptoms

Symptoms and causes of neuroblastoma

Symptoms of neuroblastoma can start mild and become more severe as cancer progresses. Therefore, it is essential to detect it as early as possible. Some of the early symptoms to watch for are:

  • Fever
  • Feeling fatigued.
  • Unexplained weight loss.
  • Lack of appetite.

In case the neuroblastoma is in the abdomen:

  • Abdominal pain.
  • Mass under the skin that is not tender to touch.
  • Swollen stomach.
  • Changes in bowel habits (diarrhea, constipation, etc.).

In case the neuroblastoma is in the chest:

  • Wheezing when breathing. 
  • Chronic cough.
  • Shortness of breath.
  • Dark circles around the eyes.

Sometimes this type of cancer spreads to the bones, so another symptom of neuroblastoma may be bone pain. 

Its causes are unknown. Different experts associate neuroblastoma and genetics so that neuroblastoma could have a hereditary component. However, when the diagnosis of this type of cancer is made, in most patients it has already spread to different areas of the body [4].

neuroblastoma treatment

Treatment of neuroblastoma

Neuroblastoma treatment depends on the child’s age, location, stage of tumor development, and whether there are any abnormalities in the chromosomes and genes [2]. In adults, the diagnosis usually occurs in advanced stages, and although the same treatments are used, the prognosis is worse.

Seven standard types of treatment are used in neuroblastoma cancer:

  • Surgery. Surgery is used to treat neuroblastoma that has not spread to other parts of the body. As much of the tumor as possible is removed, lymph nodes may also be removed and examined for signs of cancer. If the tumor cannot be removed, a biopsy is done instead of surgery, to further analyze the neuroblastoma and its risk.
  • Radiation therapy. Radiation therapy uses high-energy X-rays or other types of radiation to kill cancer cells or stop them from multiplying. 
  • Iodine 131-MIBG therapy. Iodine 131-MIBG therapy is a treatment with radioactive iodine, which is given intravenously and enters the bloodstream carrying radiation to the tumor cells. The radioactive iodine accumulates in the neuroblastoma cells and destroys them by the effect of the radiation it gives off.
  • Chemotherapy. Drugs disrupt cancer cells’ formation, destroying or preventing their multiplication. 
  • High-dose chemotherapy and radiation therapy with stem cell rescue. During neuroblastoma treatment, healthy cells, including blood-forming cells, are also destroyed. Stem cell rescue is a treatment to replace healthy cells that may have been killed during radiation therapy or chemotherapy. Stem cells (immature blood cells) are removed from the blood, frozen, and stored. After the patient finishes the chemotherapy or radiation treatment, the stored stem cells are thawed and returned to the patient. These cells become blood cells that will take over to restore the destroyed ones.
  • Targeted therapy. Targeted therapy is a treatment in which drugs or other substances are used to identify and attack specific cancer cells. These therapies generally cause less damage to healthy cells than chemotherapy or radiation [3].

 

Influence of genetics in neuroblastoma

One of the risk factors for neuroblastoma is genetics. Different gene alterations have been found that can influence the development of cancerous tumors, such as some chromosomal abnormalities (absence, duplication, or incorrect formation of part of a chromosome) [5].

Among the genes in which mutations associated with an increased risk of developing neuroblastoma have been described is the HACE1 gene, which codes for a tumor suppressor protein. Therefore, mutations in this gene are related to different types of cancer. 

The presence of a family history of neoplasms or neuroblastoma is another risk factor, increasing the likelihood of both developing and transmitting hereditary neuroblastoma [5].

Advances and genetic research have made it possible to obtain more information on whether specific gene mutations related to neuroblastoma are found in the DNA. 24Genetics’ genetic health tests can help you know your genetic predisposition to neuroblastoma, knowing your propensity to develop it. 

 

Bibliography

  1. Neuroblastoma – Symptoms and causes. Mayo Clinic. [Accessed March 2023]. Available at: https://www.mayoclinic.org/es-es/diseases-conditions/neuroblastoma/symptoms-causes/syc-20351017 
  2. Childhood neuroblastoma. Vall d’Hebron University Hospital. [Accessed March 2023]. Available at: https://hospital.vallhebron.com/es/asistencia/enfermedades/neuroblastoma-infantil
  3. Neuroblastoma Treatment (PDQ®)-Patient Version. National Cancer Institute. [Accessed March 2023]. Available at: https://www.cancer.gov/espanol/tipos/neuroblastoma/paciente/tratamiento-neuroblastoma-pdq 
  4. Neuroblastoma. Medline Plus. [Accessed March 2023]. Available at: https://medlineplus.gov/spanish/ency/article/001408.htm 
  5. Rosalio, L. H. (2022). Genetic predisposition and risk factors associated with Neuroblastoma. Xikua scientific bulletin of the high school of Tlahuelilpan, 10(19), 38-41. [Accessed March 2023]. Available at: https://doi.org/10.29057/xikua.v10i19.8119

Written by Debora Pino García

Geneticist

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