Rare Rheumatology News

Disease Profile

Inflammatory myofibroblastic tumor

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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Inflammatory fibrosarcoma

Categories

Rare Cancers

Summary

An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and become locally invasive and/or spread (metastasize) to other parts of the body.[1][2][3][4] However, malignant (cancerous) IMTs are rare.[5] The underlying cause of IMTs is poorly understood.[1][2][3][4] Some cases have been linked to translocations involving the ALK gene.[6] Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.[1][2][3][4]

Cause

The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been reported between IMT and infections, including:[7]

Associations have also been reported between IMT and:[7]

An inflammatory reaction to an underlying, low-grade malignancy has also been proposed as a cause.[4] Because there is limited information available to support or refute any of these, the mechanism behind the development of IMTs is still unclear.[7]

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.

In-Depth Information

  • 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 Inflammatory myofibroblastic tumor. Click on the link to view a sample search on this topic.

References

  1. Coffin CM, Hornick JL, Fletcher CD. Inflammatory myofibroblastic tumor: comparison of clinicopathologic, histologic, and immunohistochemical features including ALK expression in atypical and aggressive cases. American Journal of Surgical Pathology. April 2007; 31(4):509-520. https://www.ncbi.nlm.nih.gov/pubmed/17414097.
  2. Jindal A, Bal A, Agarwal R. Inflammatory myofibroblastic tumor of the trachea in the pediatric age group: case report and systematic review of the literature. Journal of Bronchology and Interventional Pulmonology. January, 2015; 22(1):58-65. https://www.ncbi.nlm.nih.gov/pubmed/?term=25590486.
  3. Chun YS, Wang L, Nascimento AG, Moir CR, Rodeberg DA. Pediatric inflammatory myofibroblastic tumor: anaplastic lymphoma kinase (ALK) expression and prognosis. Pediatr Blood Cancer. November, 2005; 45(6):796-801. https://www.ncbi.nlm.nih.gov/pubmed/?term=15602716.
  4. Ales Tomazic, Diana Gvardijancic, Joze Maucec, and Matjaz Homan. Inflammatory myofibroblastic tumor of the pancreatic head – a case report of a 6 months old child and review of the literature. Radiol Oncol. September, 2015; 49(3):265-270. https://www.ncbi.nlm.nih.gov/pubmed/?term=26401132.
  5. Salehinejad J, Pazouki M, Gerayeli MA. Malignant inflammatory myofibroblastic tumor of the maxillary sinus. J Oral Maxillofac Pathol. May-August, 2015; 17(2):306-310. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830248/.
  6. ALK. Genetics Home Reference (GHR). March 2011; https://ghr.nlm.nih.gov/gene/ALK.
  7. Karnak I, et. al. Inflammatory myofibroblastic tumor in children: diagnosis and treatment. J Pediatr Surg. June, 2001; 36(6):908-912.
  8. Sangeeta Palaskar, Supriya Koshti, Mahesh Maralingannavar, and Anirudha Bartake. Inflammatory myofibroblastic tumor. Contemp Clin Dent. Oct-Dec, 2011; 2(4):274-277.

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