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MedGen UID:
Concept ID:
Neoplastic Process
Synonyms: Carcinomas; Epithelial Neoplasm, Malignant; Epithelial Neoplasms, Malignant; Epithelial Tumor, Malignant; Epithelial Tumors, Malignant; Epithelioma; Epitheliomas; Malignant Epithelial Neoplasm; Malignant Epithelial Neoplasms; Malignant Epithelial Tumor; Malignant Epithelial Tumors; Neoplasm, Malignant Epithelial; Neoplasms, Malignant Epithelial; Tumor, Malignant Epithelial
SNOMED CT: Carcinoma (722688002); Malignant epithelial neoplasm (722688002); Malignant epithelial neoplasm (1187225007); Carcinoma (1187425009); Malignant epithelial tumor (1187425009)
HPO: HP:0030731
Monarch Initiative: MONDO:0004993


A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Carcinoma

Conditions with this feature

Aicardi syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Dyskeratosis congenita, X-linked
MedGen UID:
Concept ID:
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
PTEN hamartoma tumor syndrome with granular cell tumor
MedGen UID:
Concept ID:
Neoplastic Process
Multiple endocrine neoplasia type 4
MedGen UID:
Concept ID:
Neoplastic Process
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.\n\nThe major forms of multiple endocrine neoplasia are called type 1, type 2, and type 4. These types are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.\n\nThe most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is an adrenal gland tumor that can cause dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thyroid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumors; for example, hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.\n\nMultiple endocrine neoplasia type 4 appears to have signs and symptoms similar to those of type 1, although it is caused by mutations in a different gene. Hyperparathyroidism is the most common feature, followed by tumors of the pituitary gland, additional endocrine glands, and other organs.\n\nMany different types of tumors are associated with multiple endocrine neoplasia. Type 1 frequently involves tumors of the parathyroid glands, the pituitary gland, and the pancreas. Tumors in these glands can lead to the overproduction of hormones. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue.
Familial adenomatous polyposis 1
MedGen UID:
Concept ID:
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.
Colorectal cancer, susceptibility to, 12
MedGen UID:
Concept ID:
Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
MedGen UID:
Concept ID:
Neoplastic Process
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).

Professional guidelines


European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2018 Jul;69(1):182-236. Epub 2018 Apr 5 doi: 10.1016/j.jhep.2018.03.019. PMID: 29628281
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2017 Aug;67(2):370-398. Epub 2017 Apr 18 doi: 10.1016/j.jhep.2017.03.021. PMID: 28427875
Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr
J Clin Endocrinol Metab 2016 May;101(5):1889-916. Epub 2016 Mar 2 doi: 10.1210/jc.2015-4061. PMID: 26934393

Recent clinical studies


Renne SL, Sarcognato S, Sacchi D, Guido M, Roncalli M, Terracciano L, Di Tommaso L
Pathologica 2021 Jun;113(3):203-217. doi: 10.32074/1591-951X-295. PMID: 34294938Free PMC Article
Howard A, Agrawal N, Gooi Z
Hematol Oncol Clin North Am 2021 Oct;35(5):895-911. Epub 2021 Jul 14 doi: 10.1016/j.hoc.2021.05.003. PMID: 34274176
Cantù G
Acta Otorhinolaryngol Ital 2021 Jun;41(3):206-214. doi: 10.14639/0392-100X-N1379. PMID: 34264913Free PMC Article
Álvarez-Salafranca M, Ara M, Zaballos P
Actas Dermosifiliogr (Engl Ed) 2021 Apr;112(4):330-338. Epub 2020 Nov 28 doi: 10.1016/j.ad.2020.11.011. PMID: 33259816
Machiels JP, René Leemans C, Golusinski W, Grau C, Licitra L, Gregoire V; EHNS Executive Board. Electronic address: secretariat@ehns.org; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org; ESTRO Executive Board. Electronic address: info@estro.org
Ann Oncol 2020 Nov;31(11):1462-1475. Epub 2020 Oct 23 doi: 10.1016/j.annonc.2020.07.011. PMID: 33239190


Cantù G
Acta Otorhinolaryngol Ital 2021 Jun;41(3):206-214. doi: 10.14639/0392-100X-N1379. PMID: 34264913Free PMC Article
Wu X, Marghoob AA
Future Oncol 2015 Nov;11(22):2965-6. doi: 10.2217/fon.15.254. PMID: 26553451
Fleming S
Semin Diagn Pathol 2015 Mar;32(2):114-23. Epub 2015 Mar 9 doi: 10.1053/j.semdp.2015.02.004. PMID: 25804446
Rao N
Semin Diagn Pathol 2014 Jul;31(4):271-7. Epub 2014 Jun 11 doi: 10.1053/j.semdp.2014.06.004. PMID: 25002356
Garcia C, Poletti E, Crowson AN
J Am Acad Dermatol 2009 Jan;60(1):137-43. doi: 10.1016/j.jaad.2008.09.036. PMID: 19103364


Bourhis J, Burtness B, Licitra LF, Nutting C, Schoenfeld JD, Omar M, Bouisset F, Nauwelaerts H, Urfer Y, Zanna C, Cohen EE
Future Oncol 2022 May;18(14):1669-1678. Epub 2022 Feb 17 doi: 10.2217/fon-2021-1634. PMID: 35172587
Ashai N, Prasad P, Rajdev L
Curr Treat Options Oncol 2019 May 29;20(7):58. doi: 10.1007/s11864-019-0655-0. PMID: 31144050
Ielasi L, Tovoli F, Piscaglia F
Drugs Today (Barc) 2019 May;55(5):305-313. doi: 10.1358/dot.2019.55.5.2969817. PMID: 31131841
Tovoli F, Granito A, De Lorenzo S, Bolondi L
Drugs Today (Barc) 2018 Jan;54(1):5-13. doi: 10.1358/dot.2018.54.1.2736667. PMID: 29569657
Wörns MA, Galle PR
Nat Rev Gastroenterol Hepatol 2014 Jul;11(7):447-52. Epub 2014 Feb 4 doi: 10.1038/nrgastro.2014.10. PMID: 24492278


Rumgay H, Arnold M, Ferlay J, Lesi O, Cabasag CJ, Vignat J, Laversanne M, McGlynn KA, Soerjomataram I
J Hepatol 2022 Dec;77(6):1598-1606. Epub 2022 Oct 5 doi: 10.1016/j.jhep.2022.08.021. PMID: 36208844Free PMC Article
Petrelli F, Cortellini A, Indini A, Tomasello G, Ghidini M, Nigro O, Salati M, Dottorini L, Iaculli A, Varricchio A, Rampulla V, Barni S, Cabiddu M, Bossi A, Ghidini A, Zaniboni A
JAMA Netw Open 2021 Mar 1;4(3):e213520. doi: 10.1001/jamanetworkopen.2021.3520. PMID: 33779745Free PMC Article
Howlader N, Forjaz G, Mooradian MJ, Meza R, Kong CY, Cronin KA, Mariotto AB, Lowy DR, Feuer EJ
N Engl J Med 2020 Aug 13;383(7):640-649. doi: 10.1056/NEJMoa1916623. PMID: 32786189Free PMC Article
Li J, Zou B, Yeo YH, Feng Y, Xie X, Lee DH, Fujii H, Wu Y, Kam LY, Ji F, Li X, Chien N, Wei M, Ogawa E, Zhao C, Wu X, Stave CD, Henry L, Barnett S, Takahashi H, Furusyo N, Eguchi Y, Hsu YC, Lee TY, Ren W, Qin C, Jun DW, Toyoda H, Wong VW, Cheung R, Zhu Q, Nguyen MH
Lancet Gastroenterol Hepatol 2019 May;4(5):389-398. Epub 2019 Mar 20 doi: 10.1016/S2468-1253(19)30039-1. PMID: 30902670
Cagney DN, Martin AM, Catalano PJ, Redig AJ, Lin NU, Lee EQ, Wen PY, Dunn IF, Bi WL, Weiss SE, Haas-Kogan DA, Alexander BM, Aizer AA
Neuro Oncol 2017 Oct 19;19(11):1511-1521. doi: 10.1093/neuonc/nox077. PMID: 28444227Free PMC Article

Clinical prediction guides

Van Bockstal MR, Berlière M, Duhoux FP, Galant C
Am J Clin Pathol 2020 Oct 13;154(5):596-609. doi: 10.1093/ajcp/aqaa077. PMID: 32566938
Jain D, Fatima S, Jain S, Singhal S
J Gastrointestin Liver Dis 2017 Sep;26(3):291-297. doi: 10.15403/jgld.2014.1121.263.jai. PMID: 28922442
Burt AD, Lackner C, Tiniakos DG
Semin Liver Dis 2015 Aug;35(3):207-20. Epub 2015 Sep 17 doi: 10.1055/s-0035-1562942. PMID: 26378639
Denkert C, Budczies J, von Minckwitz G, Wienert S, Loibl S, Klauschen F
Breast 2015 Nov;24 Suppl 2:S67-72. Epub 2015 Aug 14 doi: 10.1016/j.breast.2015.07.017. PMID: 26283598
Takahashi Y, Fukusato T
World J Gastroenterol 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. PMID: 25400438Free PMC Article

Recent systematic reviews

Mainville L, Smilga AS, Fortin PR
J Cutan Med Surg 2022 May-Jun;26(3):297-308. Epub 2022 Feb 8 doi: 10.1177/12034754221078201. PMID: 35134311Free PMC Article
Reiter O, Mimouni I, Dusza S, Halpern AC, Leshem YA, Marghoob AA
J Am Acad Dermatol 2021 Sep;85(3):653-664. Epub 2019 Nov 7 doi: 10.1016/j.jaad.2019.11.008. PMID: 31706938Free PMC Article
Tan CZ, Rieger KE, Sarin KY
Dermatol Surg 2017 Jan;43(1):23-31. doi: 10.1097/DSS.0000000000000815. PMID: 27340741
Saran U, Humar B, Kolly P, Dufour JF
J Hepatol 2016 Jan;64(1):203-14. Epub 2015 Sep 1 doi: 10.1016/j.jhep.2015.08.028. PMID: 26341826
Lomas A, Leonardi-Bee J, Bath-Hextall F
Br J Dermatol 2012 May;166(5):1069-80. doi: 10.1111/j.1365-2133.2012.10830.x. PMID: 22251204

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