Hamartoma

Not to be confused with hematoma.
Hamartoma
A large hamartoma of the spleen. The hamartoma is the dark circular object on the left that dominates the image. This is a cross-section; the growth is about 9 cm in diameter, while the entire spleen is about 11 cm in diameter.[1]
Pronunciation
  • hăm-ăr-tō′mă
SpecialtyMedical genetics, pathology Edit this on Wikidata
Diagnostic methodChest x-ray, CT scan, MRI, ultrasound, and bronchoscopy.[2]

A hamartoma is a mostly benign,[3] local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell (monoclonality), as would typically define a benign neoplasm/tumor.[4] Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting,[3][4] though the underlying condition may still predispose the individual towards malignancies.

Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells.[4] Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often asymptomatic incidentalomas (undetected until they are found incidentally on an imaging study obtained for another reason). Additionally, the definition of hamartoma versus benign neoplasm is often unclear, since both lesions can be clonal. Lesions such as adenomas, developmental cysts, hemangiomas, lymphangiomas and rhabdomyomas within the kidneys, lungs or pancreas are interpreted by some experts as hamartomas while others consider them true neoplasms. Moreover, even though hamartomas show a benign histology, there is a risk of some rare but life-threatening complications such as those found in neurofibromatosis type I and tuberous sclerosis.[5]

It is different from choristoma, a closely related form of heterotopia.[6][7] The two can be differentiated as follows: a hamartoma is an excess of normal tissue in a normal situation (e.g., a birthmark on the skin), while a choristoma is an excess of tissue in an abnormal situation (e.g., pancreatic tissue in the duodenum).[8][9] The term hamartoma is from the Greek ἁμαρτία, hamartia ("error"), and was introduced by D.P.G. Albrecht in 1904.[10]

  1. ^ Uthman E (2 January 1999). "Hamartoma of the spleen". [Personal website]. Archived from the original on 15 June 2014. Retrieved 30 July 2014.
  2. ^ Cite error: The named reference Hamartoma statpearls was invoked but never defined (see the help page).
  3. ^ a b "Hamartoma definition". Taber's Medical Dictionary. Archived from the original on 7 December 2008. Retrieved 2008-09-25.
  4. ^ a b c Batsakis JG (1984-01-01). "Pathology consultation. Nomenclature of developmental tumors". The Annals of Otology, Rhinology, and Laryngology. 93 (1 Pt 1): 98–99. doi:10.1177/000348948409300122. PMID 6703601. S2CID 75206651.
  5. ^ Kumar V, Abbas AK, Fausto N, Aster JC (27 August 2014). Robbin's Pathologic Basis of Disease (9th ed.). Elsevier Health Sciences. p. 481. ISBN 978-0-323-29639-7.
  6. ^ "Choristoma" at Dorland's Medical Dictionary
  7. ^ Lee KH, Roland PS (2013). "Heterotopias, Teratoma, and Choristoma". Encyclopedia of Otolaryngology, Head and Neck Surgery. pp. 1179–1183. doi:10.1007/978-3-642-23499-6_642. ISBN 978-3-642-23498-9.
  8. ^ Jorquera JP, Rubio-Palau J, Cazalla AA, Rodríguez-Carunchio L (2016). "Choristoma: A rare congenital tumor of the tongue". Annals of Maxillofacial Surgery. 6 (2): 311–313. doi:10.4103/2231-0746.200342. PMC 5343649. PMID 28299279.
  9. ^ Goswamy M, Tabasum S, Kudva P, Gupta S (January 2012). "Osseous choristoma of the periodontium". Journal of Indian Society of Periodontology. 16 (1): 120–122. doi:10.4103/0972-124X.94619. PMC 3357020. PMID 22628977.
  10. ^ Patil, Shankargouda; Rao, RoopaS; Majumdar, Barnali (2015). "Hamartomas of the oral cavity". Journal of International Society of Preventive and Community Dentistry. 5 (5). Medknow: 347–353. doi:10.4103/2231-0762.164789. ISSN 2231-0762. PMC 4606596. PMID 26539384.