Hamartoma

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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]

Causes

Hamartomas are caused by abnormal formation in normal tissue and can occur spontaneously or as a result of an underlying disorder. Hamartomas are most likely the result of developmental error and can manifest itself in multiple locations. The development of hamartomas has also been linked to certain genes such as SMAD4, PTEN, STK1, and BMPR1A.[2]

Disorders associated with hamartomas include tuberous sclerosis, cowden syndrome, PTEN hamartoma tumour syndrome, and peutz-jeghers syndrome.[2]

Diagnosis

Classification

Lung

Parenchymal hamartoma of the lung. The surrounding lung falls away from the well-circumscribed mass, a typical feature of these lesions. The hamartoma shows a variegated yellow and white appearance, which corresponds respectively to fat and cartilage.

About 5–8% of all solitary lung nodules and about 75% of all benign lung tumors, are hamartomas.[11] Ten percent of hamartomas are endobronchial lesions, with the majority occurring in the peripheral lung parenchyma.[12] Peripheral pulmonary hamartomas typically do not cause any symptoms.[13] Patients may experience hemoptysis, obstructive pneumonia, dyspnea, persistent cough, and chest pain, depending on the size and location.[14] Typically, lung hamartomas appear as solitary nodules on thoracic computed tomography (CT) scans, with a diameter of less than 4 cm.[15]

Lung hamartomas are more common in men than in women, and may present additional difficulties in smokers.[16]

Heart

Cardiac rhabdomyomas is an uncommon, benign mesenchymal tumor that originated from striated muscle. Usually, it affects the head and neck.[17] It has been found that tuberous sclerosis is linked to 80–90% of cardiac rhabdomyomas.[18] The symptoms may manifest as pericardial effusion, hydrops fetalis, or heart blocks.[19]

Nerves

Sometimes nerves can also be affected. The most common nerve to be affected by hamartoma is reported to be median nerve.[20]

Hypothalamus

One of the most troublesome hamartomas occurs on the hypothalamus. Unlike most such growths, a hypothalamic hamartoma is symptomatic; it most often causes gelastic seizures, and can cause visual problems, other seizures, rage disorders associated with hypothalamic diseases, and early onset of puberty. The symptoms typically begin in early infancy and are progressive, often into general cognitive and/or functional disability. Moreover, resection is usually difficult, as the growths are generally adjacent to, or even intertwined with, the optic nerve. Symptoms tend to be resistant to medical control; however, surgical techniques are improving and can result in immense improvement of prognosis.[21]

Kidneys, stomach, spleen and other vascular organs

Hamartoma in breast with ultrasound

Renal hamartomas are benign tumors that most likely developed from birth defects in the organ. They are frequently abundant in blood vessels and contain varying amounts of fat and smooth muscle components.[22]

A myoepithelial hamartoma, also known as a pancreatic rest, is ectopic pancreatic tissue found in the stomach, duodenum, or proximal jejunum. When seen on upper gastrointestinal series, a pancreatic rest may appear to be a submucosal mass or gastric neoplasm. Most are asymptomatic, but they can cause dyspepsia or upper gastrointestinal bleeding.[23]

A hamartoma has been identified as a cause of partial outflow obstruction in the abomasum (true gastric stomach) of a dairy goat.[24]

Splenic hamartoma is an uncommon benign vascular proliferative tumor that is identified by the vascular endothelial lining cells' CD8 immunopositivity. It is made up of an unusual combination of typical splenic components, like red and white pulp.[25]

Cowden syndrome

Cowden syndrome is an uncommon hereditary disorder marked by numerous hamartomas in a range of tissues from all three layers of the embryo. This is a syndrome that predisposes people to cancer and increases the risk of developing cancer in many different tissues, but particularly in the endometrium, thyroid, and breast. It is inherited autosomally dominantly, with a germ-line mutation of the PTEN tumor suppressor gene present in about 80% of patients.[26]

Prognosis

Hamartomas, while generally benign, can cause problems due to their location. For example, when located on the skin, especially on the face or neck, they can be very disfiguring. Cases have been reported of hamartomas the size of a small orange.[27] They may obstruct practically any organ in the body, such as the colon, eye, etc. They are particularly likely to cause major health issues when located in the hypothalamus, kidneys, lips, or spleen. They can be removed surgically if necessary, and are not likely to recur. Prognosis will depend upon the location and size of the lesion, as well as the overall health of the patient.[citation needed]

See also

References

  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. ^ a b c Ali, Syed Awab; Mulita, Francesk (March 14, 2023). "Hamartoma". StatPearls Publishing. PMID 32965969. Retrieved October 10, 2023.
  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.
  11. ^ De Cicco C, Bellomi M, Bartolomei M, Carbone G, Pelosi G, Veronesi G, et al. (December 2008). "Imaging of lung hamartomas by multidetector computed tomography and positron emission tomography". The Annals of Thoracic Surgery. 86 (6): 1769–1772. doi:10.1016/j.athoracsur.2008.08.033. PMID 19021972.
  12. ^ Wu, Lei; Chen, Wei; Li, PengCheng; Li, Shuxian; Chen, Zhimin (April 27, 2021). "Case Report: Resection of Giant Endotracheal Hamartoma by Electrosurgical Snaring via Fiberoptic Bronchoscopy in a 9-Year-Old Boy". Frontiers in Pediatrics. 9. Frontiers Media SA. doi:10.3389/fped.2021.528966. ISSN 2296-2360. PMC 8111287. PMID 33987147.
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  14. ^ Grigoraş, Adriana; Amălinei, Cornelia; Lovin, Ciprian Sebastian; Grigoraş, Constantin Cristian; Pricope, Diana Lavinia; Costin, Constantin Aleodor; Chiseliţă, Irina Rodica; Crişan-Dabija, Radu Adrian (February 18, 2023). "The clinicopathological challenges of symptomatic and incidental pulmonary hamartomas diagnosis". Romanian Journal of Morphology and Embryology. 63 (4). Societatea Romana de Morfologie: 607–613. doi:10.47162/rjme.63.4.02. ISSN 1220-0522. PMC 10028331. PMID 36808195.
  15. ^ Saadi, Muslim M.; Barakeh, Duna H.; Husain, Sufia; Hajjar, Waseem M. (2015). "Large multicystic pulmonary chondroid hamartoma in a child presenting as pneumothorax". Saudi Medical Journal. 36 (4): 487–489. doi:10.15537/smj.2015.4.10210. ISSN 0379-5284. PMC 4404485. PMID 25828288.
  16. ^ Vuckovic, Dejan C; Koledin, Milos P; Vuckovic, Nada M; Koledin, Bojan M (March 25, 2020). "Mediastinal Cartilaginous Hamartoma". Cureus. 12 (3). Cureus, Inc.: e7411. doi:10.7759/cureus.7411. ISSN 2168-8184. PMC 7182163. PMID 32337135.
  17. ^ Hansen, Torsten; Katenkamp, Detlef (August 18, 2005). "Rhabdomyoma of the head and neck: morphology and differential diagnosis". Virchows Archiv. 447 (5). Springer Science and Business Media LLC: 849–854. doi:10.1007/s00428-005-0038-8. ISSN 0945-6317. PMID 16133368. S2CID 8031365.
  18. ^ Sarkar, Sharmila; Siddiqui, Waqas J. (November 14, 2022). "Cardiac Rhabdomyoma". StatPearls Publishing. PMID 32809444. Retrieved January 28, 2024.
  19. ^ Hinton, Robert B.; Prakash, Ashwin; Romp, Robb L.; Krueger, Darcy A.; Knilans, Timothy K. (December 17, 2014). "Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group". Journal of the American Heart Association. 3 (6). Ovid Technologies (Wolters Kluwer Health): e001493. doi:10.1161/jaha.114.001493. ISSN 2047-9980. PMC 4338742. PMID 25424575.
  20. ^ Ranjan, Rajni; Kumar, Rakesh; Jeyaraman, Madhan; Kumar, Sudhir (June 1, 2020). "Fibrolipomatous Hamartoma (FLH) of Median Nerve: A Rare Case Report and Review". Indian Journal of Orthopaedics. 55 (S1). Springer Science and Business Media LLC: 267–272. doi:10.1007/s43465-020-00149-9. ISSN 0019-5413. PMC 8149561. PMID 34113430.
  21. ^ "Hypothalmic Hamartoma". Barrow Neurological Institute. Archived from the original on 2015-09-21. Retrieved 2013-01-09.
  22. ^ Palmisano, Peter J. (1967). "Renal Hamartoma (Angiomyolipoma): Its Angiographic Appearance and Response to Intra-Arterial Epinephrine". Radiology. 88 (2): 249–252. doi:10.1148/88.2.249. ISSN 0033-8419. PMID 6016922.
  23. ^ Shah, A.; Gordon, A.R.; Ginsberg, G.G.; Furth, E.E.; Levine, M.S. (2007). "Ectopic pancreatic rest in the proximal stomach mimicking gastric neoplasms". Clinical Radiology. 62 (6). Elsevier BV: 600–602. doi:10.1016/j.crad.2007.01.001. ISSN 0009-9260. PMID 17467399.
  24. ^ Smith J, Klostermann C, Harm T, Breuer R, Kovalik DA, Bornkamp J, Yaeger M (August 2017). "Abomasal hamartoma in a La Mancha wether". Veterinary Record Case Reports. 5 (3): e000515. doi:10.1136/vetreccr-2017-000515. S2CID 80240747.
  25. ^ Sim, Jongmin; Ahn, Hye In; Han, Hulin; Jun, Young Jin; Rehman, Abdul; Jang, Se Min; Jang, Kiseok; Paik, Seung Sam (2013). "Splenic hamartoma: A case report and review of the literature". World Journal of Clinical Cases. 1 (7). Baishideng Publishing Group Inc.: 217. doi:10.12998/wjcc.v1.i7.217. ISSN 2307-8960. PMC 3856295.
  26. ^ Farooq, A.; Walker, L.J.; Bowling, J.; Audisio, R.A. (2010). "Cowden syndrome". Cancer Treatment Reviews. 36 (8). Elsevier BV: 577–583. doi:10.1016/j.ctrv.2010.04.002. ISSN 0305-7372. PMID 20580873.
  27. ^ "Dermatology Images". Dermatology Image Atlas. Archived from the original on 2006-05-15.

External links