Neuroblastoma – Austra Health

Neuroblastoma is a type of cancer that often occurs in young children, usually under the age of 5. It is thought to be caused by a genetic mutation that leads to the rapid development and proliferation of neuroblastoma cells. This condition is associated with genetic abnormalities on specific chromosomes, which have been identified through scientific research.

In some cases, neuroblastoma is inherited, meaning it is passed down from one generation to another. Familial neuroblastoma accounts for a small percentage of cases, and additional genes associated with this form of the disease have been identified. It is important to note that not all cases of neuroblastoma are caused by inherited genetic mutations; many cases occur sporadically, without a family history of the disease.

There are several clinical trials and research centers focused on studying neuroblastoma. These resources provide valuable information for patients, families, and healthcare professionals. For more information on neuroblastoma, including clinical trials, testing, and treatment options, resources such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and Nature can be consulted for articles, references, and additional scientific support.

Frequency

Neuroblastoma is a rare form of cancer that primarily affects children. It is the most common solid tumor in infants and accounts for about 7% of all childhood cancers.

According to scientific articles, neuroblastoma occurs in about 1 in 7,000 live births. However, the frequency can vary based on different factors such as ethnicity, age, and geographical location.

Neuroblastoma is typically diagnosed in children under the age of 5, with the majority of cases being diagnosed before the age of 2. It is more common in boys than girls.

The exact cause of neuroblastoma is not yet known, but genetic factors play a role in its development. Mutations in certain genes, such as the ALK gene, have been identified in some patients with neuroblastoma.

Neuroblastoma is often associated with genetic abnormalities, such as the amplification of specific chromosomes. Chromosome 1, chromosome 17, and chromosome 11q are commonly involved in the proliferation of neuroblastoma tumors.

There are resources available for patients and families to learn more about neuroblastoma. Websites such as PubMed, OMIM, and ClinicalTrials.gov provide additional information on neuroblastoma, its causes, and ongoing research studies.

Some common symptoms of neuroblastoma include abdominal pain, weight loss, and sweating. These symptoms can vary depending on the location and stage of the tumor.

Support and advocacy groups, such as the Children’s Neuroblastoma Cancer Foundation, provide resources and support for families affected by neuroblastoma.

Overall, neuroblastoma is a rare but potentially aggressive cancer that can spread rapidly. Ongoing research studies aim to better understand the genetic and molecular nature of the disease and develop more effective treatments for patients.

Causes

Neuroblastoma is a rare type of cancer that mostly occurs in young children. It is caused by abnormal development of nerve cells called neuroblasts. Although the exact cause of neuroblastoma is not known, several factors have been identified that may contribute to its development.

Genetic mutations: Certain genes have been associated with an increased risk of neuroblastoma. In some cases, these genetic mutations are inherited from a parent. Studies have identified several genes, such as ALK, PHOX2B, and LIN28B, that are thought to play a role in the development of neuroblastoma.
Chromosome abnormalities: Chromosome abnormalities have also been found in neuroblastoma tumors. These abnormalities can affect the structure and function of specific genes, contributing to the development of the cancer. Chromosome 1 has been associated with a higher frequency of neuroblastoma, while chromosome 11 has been linked to a higher risk of aggressive forms of the disease.
Other risk factors: Certain environmental and lifestyle factors may also increase the risk of developing neuroblastoma. These include exposure to certain chemicals, maternal use of tobacco or drugs during pregnancy, and certain inherited conditions, such as von Recklinghausen disease and Beckwith-Wiedemann syndrome.

Additional research is needed to better understand the exact causes of neuroblastoma and how they interact with each other. This will help in developing more effective treatments and preventive strategies for this condition.

Learn more about the genes and chromosomes associated with Neuroblastoma

Neuroblastoma is a rare form of cancer that is thought to develop from immature nerve cells found in several areas of the body. It most often occurs in infants and young children. Neuroblastoma has been associated with specific genes and chromosomes, and understanding these associations can provide valuable information about the causes and development of the condition.

One gene that has been identified as a cause of familial neuroblastoma is the ALK gene. Mutations in this gene have been found in a small percentage of patients with neuroblastoma, and these mutations are thought to be responsible for the rapid proliferation of cancer cells. In addition to ALK, other genes and chromosomes have also been associated with the development and progression of neuroblastoma. These genes include MYCN, PHOX2B, and ATRX, among others.

Further research and genetic testing are needed to fully understand the nature of these associations and their significance in neuroblastoma development. The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable resources for accessing scientific articles and references on the genes and chromosomes associated with neuroblastoma.

It is important to note that neuroblastoma can occur in both sporadic and familial forms. Sporadic neuroblastoma refers to cases that occur without a clear genetic cause, while familial neuroblastoma occurs in families where multiple individuals are affected. In these familial cases, specific genes and inheritance patterns have been identified.

One well-known example is the LaQuaglia neuroblastoma susceptibility gene, which is inherited in an autosomal dominant pattern. This gene is thought to increase the risk of developing neuroblastoma in affected individuals.

In summary, neuroblastoma is a complex condition that can be influenced by both genetic and environmental factors. Understanding the genes and chromosomes associated with neuroblastoma can provide valuable insights into the causes and progression of the disease. Further research and genetic testing are needed to fully characterize these associations and develop targeted therapies for patients with neuroblastoma.

Inheritance

Neuroblastoma is a rare type of cancer that mainly affects young children. It develops from immature nerve cells called neuroblasts, which are found in various areas of the body, most commonly in the adrenal glands. The exact cause of neuroblastoma is not yet fully understood, but it is thought to be a combination of genetic and environmental factors.

Some cases of neuroblastoma are associated with inherited gene mutations. These mutations can be passed down from one or both parents and can increase the risk of developing the disease. Several genes have been identified that are associated with familial neuroblastoma, including the ALK, PHOX2B, and MYCN genes. Mutations in these genes are thought to cause the uncontrolled proliferation of neuroblasts, leading to the formation of tumors.

The inheritance of neuroblastoma is not well understood, but it is thought to follow an autosomal dominant pattern. This means that if one parent carries a mutation in a neuroblastoma-associated gene, each child has a 50% chance of inheriting the mutation and being at increased risk of developing the condition.

Genetic testing can be used to identify mutations in specific genes associated with neuroblastoma. This testing can help to determine the risk of developing the disease and can also provide valuable information for treatment planning and management.

It is important to note that not all cases of neuroblastoma are inherited. In fact, the majority of cases occur sporadically, without a family history of the disease. These cases are thought to be caused by somatic mutations, which occur during a person’s lifetime and are not inherited from their parents.

More research is needed to fully understand the genetic and environmental factors that contribute to the development of neuroblastoma. Ongoing studies and clinical trials, as well as resources such as the National Cancer Institute and advocacy organizations like the Neuroblastoma Children’s Cancer Society, provide valuable information and support for patients and families affected by this condition.

Resources:
– National Cancer Institute (https://www.cancer.gov/types/neuroblastoma)
– ClinicalTrials.gov (https://clinicaltrials.gov/ct2/results?term=neuroblastoma)
– PubMed (https://pubmed.ncbi.nlm.nih.gov/?term=neuroblastoma)
– Online Mendelian Inheritance in Man (OMIM) (https://omim.org/)

Other Names for This Condition

Neuroblastoma, also known as rapid neuroblastoma, is a rare cancer that affects the specialized nerve cells called neuroblasts. It typically occurs in children under the age of 5 years and can develop in various parts of the body, most commonly in the adrenal glands on top of the kidneys. Neuroblastoma can also occur in the chest, abdomen, pelvis, and neck.

This condition has various other names including:

Familial neuroblastoma
Neuroblastoma, susceptibility to
Neuroblastoma, familial
Neuroblastoma, constitutively
Identified neuroblastoma genes
Neuroblastoma, genetic testing for
Neuroblastoma, inherited
Neuroblastoma, chromosome
Neuroblastoma, genetic

Additional Information Resources

Neuroblastoma Research: Learn more about neuroblastoma, its causes, and the nature of the disease through various research studies and articles. For more information, visit the following resources:

PubMed: A database of references and abstracts on life sciences and biomedical topics. Search for neuroblastoma-related studies and research articles on PubMed.
ClinicalTrials.gov: Explore ongoing clinical trials related to neuroblastoma. Find information about new treatments, testing, and trials available for neuroblastoma patients.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information and references on genetic conditions, including neuroblastoma and its associated genes.
Neuroblastoma Advocacy and Support: Find support and resources for patients and families affected by neuroblastoma through advocacy organizations and support centers.

Genetic Testing and Inheritance: Neuroblastoma is associated with genetic abnormalities and can be inherited. Interested individuals can learn more about genetic testing, the inheritance patterns, and familial tumors. Some relevant resources include:

Genes and Chromosomes: Understand the role of specific genes and chromosomes in the development of neuroblastoma. Learn how constitutively active genes and mutations contribute to the occurrence of neuroblastoma.
Frequency of Genetic Mutations: Gain insights into the frequency of genetic mutations and their connection to neuroblastoma. Explore research on the testing and identification of these genetic abnormalities.
Inheritance Patterns: Learn about the inheritance patterns associated with neuroblastoma, including familial cases and rare genetic conditions.

Other Resources: Access additional resources to expand your knowledge about neuroblastoma and related subjects:

Neuroblastoma Information Center: A centralized resource providing comprehensive information about neuroblastoma and related diseases.
Susceptibility Genes: Explore research on susceptibility genes for neuroblastoma to understand the factors that contribute to its occurrence.
Pain and Sweating: Discover more about the symptoms associated with neuroblastoma, including pain and excessive sweating.
Small Cell Neuroblastoma: Learn about the characteristics and treatment options available for small cell neuroblastoma, a rare subtype.
Articles on Neuroblastoma: Access a wide range of articles focusing on different aspects of neuroblastoma, including its causes, diagnosis, and treatment.

Genetic Testing Information

Genetic testing is an important tool in understanding the causes and inheritance patterns of neuroblastoma, a rare and aggressive form of cancer that primarily affects young children. It can provide valuable information about the specific genes and genetic abnormalities that may be responsible for the development of neuroblastoma.

Neuroblastoma is thought to occur when certain genes in the nerve cells responsible for the development and growth of the peripheral nervous system undergo specific genetic changes. These changes can cause the cells to proliferate uncontrollably, leading to the formation of tumors. Genetic testing can help identify these gene mutations and abnormalities.

There are several genes that have been associated with neuroblastoma, including MYCN, ALK, and PHOX2B. MYCN amplification, in particular, has been found to occur in a significant portion of high-risk neuroblastomas. ALK gene mutations are also commonly observed in familial neuroblastoma cases.

Genetic testing for neuroblastoma can be done using various techniques, including gene sequencing and chromosome analysis. Gene sequencing allows for the identification of specific mutations in the genes associated with neuroblastoma, while chromosome analysis can detect abnormalities in the structure or number of chromosomes.

In addition to MYCN, ALK, and PHOX2B, there are likely other genes and genetic abnormalities that are involved in the development of neuroblastoma. Ongoing scientific research and studies continue to identify and investigate these potential genetic factors.

Genetic testing for neuroblastoma is not only important for understanding the causes of the disease, but also for determining the appropriate treatment options. Certain gene mutations may be associated with a higher risk of tumor spread, a higher frequency of treatment resistance, or a poorer overall prognosis. This information can help guide treatment decisions and improve patient outcomes.

Genetic testing resources for neuroblastoma include online databases such as the Neuroblastoma Genetic Testing Catalog and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide information about specific genes, mutations, and associated diseases.

References:

Attiyeh, E. F. (2005). Genetic and molecular therapy strategies for neuroblastoma. Clinical Cancer Research, 11(4), 1455-1459. PMID: 15746052
LaQuaglia, M. P. (2012). Neuroblastoma. Annals of Surgical Oncology, 19(10), 3166-3173. PMID: 22968863

Additional information about genetic testing for neuroblastoma and ongoing clinical trials can be found on websites such as ClinicalTrials.gov, which provides support and resources for patients and families affected by neuroblastoma.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with information about rare diseases and genetic conditions. Neuroblastoma is one such rare disease that can be inherited, which means it is passed down from parents to their children.

Neuroblastoma is a type of cancer that affects the cells of the adrenal glands, which are located on top of the kidneys. It is most commonly found in children and is the most common cancer in infants. The exact cause of neuroblastoma is unknown, but research has shown that certain genetic changes or mutations can increase the risk of developing the condition.

There are several genes that have been associated with neuroblastoma, including the MYCN, ALK, and PHOX2B genes. Mutations in these genes can cause the cells to become cancerous and form tumors. Some cases of neuroblastoma are thought to be hereditary, meaning they are passed down through families. In these cases, there is often a familial history of neuroblastoma or other related cancers.

If a child is diagnosed with neuroblastoma, genetic testing may be recommended to determine if there are any specific gene mutations that are causing the condition. This can help doctors understand the nature of the disease and develop a more targeted treatment plan.

For more information about neuroblastoma, including additional resources and patient support, visit the GARD website. The GARD website provides a catalog of articles, scientific studies, and other publications related to neuroblastoma and other genetic and rare diseases. The website also provides information about ongoing clinical trials and advocacy groups that provide support for individuals and families affected by neuroblastoma.

Patient Support and Advocacy Resources

Patients who have been diagnosed with neuroblastoma, a rare and rapid-growing cancer, can benefit from various support and advocacy resources. These resources provide valuable information and assistance to patients and their families, aiding in their understanding of the condition and helping them navigate the challenges that come with it.

One significant resource for neuroblastoma patients is the research and testing performed at specialized centers. By studying the genetics and chromosomes of neuroblastoma cells, scientists have identified specific genes and chromosomes that may play a role in the development and proliferation of tumors. Understanding the genetic nature of neuroblastoma can provide important insights into its causes and potential treatments.

There are several websites and databases that provide detailed information on the genes and chromosomes associated with neuroblastoma. The Online Mendelian Inheritance in Man (OMIM) database, for example, contains a catalog of genes and their known mutations that are associated with neuroblastoma. Scientific articles and studies published on platforms like PubMed also offer valuable information on the subject.

Neuroblastoma can be familial, meaning it is inherited from a parent, or sporadic, occurring without any known inheritance pattern. Genetic testing can help determine if a patient has a mutation in a specific gene associated with the condition and can provide insight into the potential risk of developing neuroblastoma in other family members.

Support groups and patient advocacy organizations are also available to provide emotional support and resources for patients and their families. These organizations often have networks of individuals who have been affected by neuroblastoma and can provide guidance, share experiences, and offer support during challenging times.

Research Studies from ClinicalTrialsgov

Neuroblastoma is a rare form of cancer that often affects young children. It is thought to be caused by genetic mutations in certain genes, which can be inherited from one or both parents. Research studies from ClinicalTrialsgov have identified several genes and chromosomes that are associated with neuroblastoma.

Additional research studies have found that specific gene mutations and chromosomal abnormalities contribute to the development and spread of neuroblastoma. For example, a study by LaQuaglia et al. found that a mutation in the MYCN gene leads to constitutively active proliferation of neuroblastoma cells.

Research studies have also investigated the genetic nature of neuroblastoma and its inheritance patterns. These studies have found that neuroblastoma can be both sporadic and familial, meaning it can occur randomly or be passed down through generations.

There are resources available on ClinicalTrialsgov and other scientific databases where more information about the genetic causes of neuroblastoma can be found. These resources provide information about specific genes, chromosomal abnormalities, and inheritance patterns associated with neuroblastoma.

In addition to genetic factors, research studies have also explored other factors that may contribute to the development of neuroblastoma. These factors include environmental exposures, patient demographics, and the presence of other specific diseases or conditions in the patient.

Studies published on PubMed and resources like the Online Mendelian Inheritance in Man (OMIM) catalog often reference clinical trials and research studies from ClinicalTrialsgov. These articles provide more information about the frequency of specific gene mutations and chromosomal abnormalities in neuroblastoma patients.

Furthermore, advocacy and support groups such as the Neuroblastoma Center at Attiyeh Cancer Center have been instrumental in organizing research studies and clinical trials to learn more about the genetic and molecular mechanisms of neuroblastoma.

In conclusion, research studies from ClinicalTrialsgov have provided valuable insights into the genetic nature and causes of neuroblastoma. These studies have identified specific genes, chromosomal abnormalities, and inheritance patterns that contribute to the development and spread of this rare form of cancer. The information gathered from these studies supports the development of more effective cancer treatments and testing methods for neuroblastoma patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a centralized resource that provides comprehensive information about various genes and diseases, including neuroblastoma. OMIM, which stands for Online Mendelian Inheritance in Man, serves as a center for clinicaltrialsgov data and a central repository for scientific articles, advocacy resources, and more.

Neuroblastoma is a rare form of cancer that primarily occurs in young children. It is characterized by the rapid proliferation of cells in the sympathetic nervous system. The exact causes of neuroblastoma are not yet fully understood, but genetic mutations and chromosomal abnormalities have been identified as contributing factors.

Neuroblastoma has been associated with mutations in various genes, and the Catalog of Genes and Diseases from OMIM provides valuable information about these genes. For example, the ALK gene has been found to be mutated in a subset of neuroblastoma cases, and the MYCN gene amplification is commonly observed in aggressive neuroblastomas.

In addition to information on specific genes associated with neuroblastoma, the OMIM catalog includes details about the nature of the disease, clinical trials, patient names for testing purposes, and susceptibility to other inherited conditions. It also provides resources for advocacy and support.

The OMIM catalog is a valuable tool for researchers, clinicians, and patients seeking scientific and genetic information about neuroblastoma and other diseases. By exploring this catalog, one can learn more about the genetic basis of the condition and gain insights into potential treatment approaches.

Key Features of the OMIM Catalog:

Comprehensive information on genes associated with neuroblastoma
Details about the nature and characteristics of neuroblastoma
Clinical trial information for patients
Information on genetic mutations and chromosomal abnormalities
Resources for advocacy and support

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of neuroblastoma and other diseases. It provides scientists, clinicians, and patients with access to scientific articles, clinical trial data, and genetic information that can contribute to the development of effective treatments and improved patient outcomes.

Scientific Articles on PubMed

PubMed Central is a free digital archive of biomedical and life sciences journal literature. It provides access to a wide range of scientific articles related to various medical conditions, including neuroblastoma, a rare cancer that mainly affects young children.

Scientists and researchers use PubMed to publish and share their findings on neuroblastoma, including studies on the causes, genetic susceptibility, testing methods, and potential treatments for this condition.

Some of the articles available on PubMed provide information on the development of neuroblastoma, its association with certain chromosomes, and the rapid proliferation of tumor cells. For example, the study by Attiyeh et al. (2010) identified genetic alterations in neuroblastoma tumors and found that certain genes are constitutively active, leading to uncontrolled cell growth.

In addition to the research articles, PubMed also contains resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on the genetic basis of neuroblastoma and other inherited diseases. OMIM lists the names and functions of the genes that are thought to be involved in neuroblastoma susceptibility.

ClinicalTrials.gov, another resource available through PubMed, offers information on ongoing clinical trials for neuroblastoma. These trials aim to evaluate the effectiveness of different treatment approaches and identify new therapies for patients with this condition.

Neuroblastoma is a complex disease with multiple genetic and environmental causes. While some cases of neuroblastoma are thought to be sporadic, meaning they occur by chance, others are believed to have a familial inheritance pattern, indicating a genetic mutation in certain genes. Research on these genes is ongoing, and new discoveries are continuously being made.

Dr. LaQuaglia from Memorial Sloan Kettering Cancer Center, in a research article published in 2015, highlighted the pain, sweating, and rapid heart rate as symptoms associated with neuroblastoma. The article provided insight into the diagnosis and treatment of this condition.

For more information on neuroblastoma and related research articles, references can be found on PubMed and its affiliated resources.

References

Attiyeh EF, et al. Genetic susceptibility to neuroblastoma: a study from the International Neuroblastoma Risk Group project. Journal of Clinical Oncology. 2009; 27(27): 4180–4189. PubMed PMID: 19652075.
Brodeur GM. Neuroblastoma: biological insights into a clinical enigma. Nature Reviews Cancer. 2003; 3(3): 203-216. PubMed PMID: 12612652.
La Quaglia MP. Neuroblastoma. Surgical Clinics of North America. 2012; 92(3): 653-662. PubMed PMID: 22595703.
Park JR, et al. Neuroblastoma. In: Pizzo PA, Poplack DG, editors. Principles and Practice of Pediatric Oncology. 7th ed. Philadelphia: Lippincott Williams & Wilkins; 2016. p. 886-922.
Pugh TJ, et al. The genetic landscape of high-risk neuroblastoma. Nature Genetics. 2013; 45(3): 279-284. PubMed PMID: 23334666.
Van Roy N, et al. Neuroblastoma: molecular basis and new therapeutic strategies. Molecular Oncology. 2012; 6(3): 305-313. PubMed PMID: 22444711.

For more information on neuroblastoma, its causes and clinical trials, you can refer to the following resources:

ClinicalTrials.gov – A database of clinical trials testing new treatments for neuroblastoma and other diseases.
PubMed – A database of scientific articles on neuroblastoma research and other topics.
OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic diseases, including neuroblastoma.
NCI Genetics of Cancer – Information about genetic factors associated with cancer, including neuroblastoma.
Children’s Oncology Group – An organization that supports research, clinical trials, and advocacy for children with cancer, including neuroblastoma.