Rare Cardiology News

Disease Profile

Olfactory neuroblastoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

ageofonset-adult.svg

ICD-10

C30.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Esthesioneuroblastoma

Categories

Nervous System Diseases; Rare Cancers

Summary

Olfactory neuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It accounts for about 5% of all cancers of the nasal cavity and paranasal sinuses. It develops in nerve tissue associated with the sense of smell (olfactory nerve). It can occur at any age, but typically is found in adulthood.[1][2][3] Symptoms may be nonspecific and include a blockage of the nasal passageways due to the tumor, facial pain, runny nose, and nosebleeds. Treatment usually includes surgery to remove the tumor, radiation therapy, and sometimes chemotherapy.[2]

Symptoms

The most common symptom of olfactory neuroblastoma is blockage of the nasal passageway secondary to the tumor. Other signs and symptoms may include:[2][4]

  • Loss of smell (anosmia) 
  • Chronic sinus infections (sinusitis)
  • Nasal bleeding
  • Nasal discharge
  • Pain

Some symptoms might be associated with a spread (metastasis) of the tumor to other structures in the face. These symptoms might include:[2][4]

  • Sinus pain and headache
  • Visual changes
  • Ear pain 

Cause

The cause of olfactory neuroblastoma is not well understood. No specific environmental or genetic causes have been confirmed, although comprehensive genetic testing of affected individuals has identified regions within chromosomes 2, 5, 6, 7, and 20 that may be involved.[3][4]

Diagnosis

A diagnosis of olfactory neuroblastoma may be suspected based on presenting signs and symptoms and imaging studies such as MRI and CT scans. The diagnosis is confirmed through biopsy of the tumor.[2]

Treatment

There are no standard guidelines for treatment of olfactory neuroblastoma. Treatment is dependent on the stage of the cancer. Most patients are initially treated with surgical removal of the tumor if possible. Radiation therapy is most commonly administered after surgery. The role of chemotherapy for olfactory neuroblastoma remains unclear. Although several studies have utilized chemotherapy, it is not clear whether it improves the long-term outlook (prognosis) compared to surgery and radiation therapy.[2][4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Olfactory neuroblastoma. Click on the link to view a sample search on this topic.

        References

        1. Nasal Cavity and Paranasal Sinuses Cancer. American Cancer Society. 3/2/2015; https://www.cancer.org/cancer/nasalcavityandparanasalsinuscancer/detailedguide/nasal-cavity-and-paranasal-sinuses-cancer-what-is-nasal-paranasal.
        2. Carl Snyderman, Derrick Lin, Bruce E Brockstein, Robert Foote, Jerome B Taxy. Olfactory neuroblastoma (esthesioneuroblastoma). UpToDate. Jan 8, 2016; https://www.uptodate.com/contents/olfactory-neuroblastoma-esthesioneuroblastoma.
        3. Michael Somenek. Esthesioneuroblastoma. Medscape. April 14, 2015; https://emedicine.medscape.com/article/278047.
        4. Nalavenkata SB, Sacks R, Adappa ND, Palmer JN, Purkey MT, Feldman MD, Schlosser RJ, Snyderman CH, Wang EW, Woodworth BA, Smee R, Havas TE, Gallagher R, Harvey RJ. Olfactory Neuroblastoma: Fate of the Neck--A Long-term Multicenter Retrospective Study.. Otolaryngol Head Neck Surg.. December 15, 2015; 154(2):283-9. https://www.ncbi.nlm.nih.gov/pubmed/26671900.

        Rare Cardiology News