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Thyroid adenoma

MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
Synonym: Thyroid adenoma (disease)
SNOMED CT: Thyroid follicular adenoma (255034006)
 
HPO: HP:0000854
OMIM®: 605391

Definition

The presence of a adenoma of the thyroid gland. [from HPO]

Conditions with this feature

Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome-1 is a hamartomatous disorder characterized by macrocephaly, facial trichilemmomas, acral keratoses, papillomatous papules, and an increased risk for the development of breast, thyroid, and endometrial carcinoma. Bannayan-Riley-Ruvalcaba syndrome (BRRS), previously thought be distinct, shared clinical characteristics with Cowden syndrome, such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms, but had the additional features of developmental delay, macrocephaly, lipomas, hemangiomas, and pigmented speckled macules of the glans penis in males. Because features of BRRS and Cowden syndrome have been found in individuals within the same family with the same PTEN mutation, Cowden syndrome-1 and BRRS are considered to be the same disorder with variable expression and age-related penetrance (summary by Marsh et al., 1999, Lachlan et al., 2007, and Blumenthal and Dennis, 2008). Approximately 80% of patients reported with Cowden syndrome and 60% with BRSS have PTEN mutations (Blumenthal and Dennis, 2008). Some patients with Cowden syndrome may have immune system defects resulting in increased susceptibility to infections (summary by Browning et al., 2015).
Multiple endocrine neoplasia, type 1
MedGen UID:
9957
Concept ID:
C0025267
Neoplastic Process
Multiple endocrine neoplasia type 1 (MEN1) includes varying combinations of more than 20 endocrine and non-endocrine tumors. Endocrine tumors become evident either by overproduction of hormones by the tumor or by growth of the tumor itself. Parathyroid tumors are the most common MEN1-associated endocrinopathy; onset in 90% of individuals is between ages 20 and 25 years with hypercalcemia evident by age 50 years; hypercalcemia causes lethargy, depression, confusion, anorexia, constipation, nausea, vomiting, diuresis, dehydration, hypercalciuria, kidney stones, increased bone resorption/fracture risk, hypertension, and shortened QT interval. Pituitary tumors include prolactinoma (the most common), which manifests as oligomenorrhea/amenorrhea and galactorrhea in females and sexual dysfunction in males. Well-differentiated endocrine tumors of the gastro-entero-pancreatic (GEP) tract can manifest as Zollinger-Ellison syndrome (gastrinoma); hypoglycemia (insulinoma); hyperglycemia, anorexia, glossitis, anemia, diarrhea, venous thrombosis, and skin rash (glucagonoma); and watery diarrhea, hypokalemia, and achlorhydria syndrome (vasoactive intestinal peptide [VIP]-secreting tumor). Carcinoid tumors are non-hormone-secreting and can manifest as a large mass after age 50 years. Adrenocortical tumors can be associated with primary hypercortisolism or hyperaldosteronism. Non-endocrine tumors include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas.
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
Familial adenomatous polyposis 4
MedGen UID:
934686
Concept ID:
C4310719
Disease or Syndrome
Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100).

Professional guidelines

PubMed

Wang Y, Gao X, Yang Z, Yan X, He X, Guo T, Zhao S, Zhao H, Chen ZJ
Hum Reprod 2023 Nov 20;38(Suppl 2):ii69-ii79. doi: 10.1093/humrep/dead191. PMID: 37982419
Mariani G, Tonacchera M, Grosso M, Orsolini F, Vitti P, Strauss HW
J Nucl Med 2021 Mar;62(3):304-312. Epub 2020 Oct 2 doi: 10.2967/jnumed.120.243170. PMID: 33008929
Pfeifer A, Wojtas B, Oczko-Wojciechowska M, Kukulska A, Czarniecka A, Eszlinger M, Musholt T, Stokowy T, Swierniak M, Stobiecka E, Rusinek D, Tyszkiewicz T, Kowal M, Jarzab M, Hauptmann S, Lange D, Paschke R, Jarzab B
BMC Med Genomics 2013 Oct 7;6:38. doi: 10.1186/1755-8794-6-38. PMID: 24099521Free PMC Article

Recent clinical studies

Etiology

Li J, Li C, Zhou X, Huang J, Yang P, Cang Y, Zhai H, Huang R, Mu Y, Gou X, Zhang Y, Yu J, Liang P
Radiology 2023 Nov;309(2):e230949. doi: 10.1148/radiol.230949. PMID: 37987664
Shifman BM, Platonova NM, Vasilyev EV, Abdulkhabirova FM, Kachko VA
Crit Rev Oncol Hematol 2022 May;173:103662. Epub 2022 Mar 25 doi: 10.1016/j.critrevonc.2022.103662. PMID: 35341987
Rosol TJ, Witorsch RJ
Regul Toxicol Pharmacol 2021 Aug;124:104961. Epub 2021 May 18 doi: 10.1016/j.yrtph.2021.104961. PMID: 34015422
Mariani G, Tonacchera M, Grosso M, Orsolini F, Vitti P, Strauss HW
J Nucl Med 2021 Mar;62(3):304-312. Epub 2020 Oct 2 doi: 10.2967/jnumed.120.243170. PMID: 33008929
Pazaitou-Panayiotou K, Michalakis K, Paschke R
Horm Metab Res 2012 Apr;44(4):255-62. Epub 2012 Feb 14 doi: 10.1055/s-0031-1299741. PMID: 22334393

Diagnosis

Li J, Li C, Zhou X, Huang J, Yang P, Cang Y, Zhai H, Huang R, Mu Y, Gou X, Zhang Y, Yu J, Liang P
Radiology 2023 Nov;309(2):e230949. doi: 10.1148/radiol.230949. PMID: 37987664
Rosol TJ, Witorsch RJ
Regul Toxicol Pharmacol 2021 Aug;124:104961. Epub 2021 May 18 doi: 10.1016/j.yrtph.2021.104961. PMID: 34015422
Mariani G, Tonacchera M, Grosso M, Orsolini F, Vitti P, Strauss HW
J Nucl Med 2021 Mar;62(3):304-312. Epub 2020 Oct 2 doi: 10.2967/jnumed.120.243170. PMID: 33008929
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412
Marqusee E, Haden ST, Utiger RD
Endocrinol Metab Clin North Am 1998 Mar;27(1):37-49. doi: 10.1016/s0889-8529(05)70296-6. PMID: 9534026

Therapy

Rosol TJ, Witorsch RJ
Regul Toxicol Pharmacol 2021 Aug;124:104961. Epub 2021 May 18 doi: 10.1016/j.yrtph.2021.104961. PMID: 34015422
Tang P, Ren C, Shen L, Zhou Z
J Comput Assist Tomogr 2021 Jan-Feb 01;45(1):128-134. doi: 10.1097/RCT.0000000000001078. PMID: 33475318
Schleder S, Janke M, Agha A, Schacherer D, Hornung M, Schlitt HJ, Stroszczynski C, Schreyer AG, Jung EM
Clin Hemorheol Microcirc 2015;61(1):13-22. doi: 10.3233/CH-141848. PMID: 24898562
Zheng YX, Xu SM, Wang P, Chen L
J Zhejiang Univ Sci B 2007 Sep;8(9):626-31. doi: 10.1631/jzus.2007.B0626. PMID: 17726743Free PMC Article
Tonacchera M, Vitti P, De Servi M, Agretti P, De Marco G, Chiovato L, Pinchera A
J Endocrinol Invest 2003;26(2 Suppl):2-6. PMID: 12762632

Prognosis

Li J, Li C, Zhou X, Huang J, Yang P, Cang Y, Zhai H, Huang R, Mu Y, Gou X, Zhang Y, Yu J, Liang P
Radiology 2023 Nov;309(2):e230949. doi: 10.1148/radiol.230949. PMID: 37987664
Shifman BM, Platonova NM, Vasilyev EV, Abdulkhabirova FM, Kachko VA
Crit Rev Oncol Hematol 2022 May;173:103662. Epub 2022 Mar 25 doi: 10.1016/j.critrevonc.2022.103662. PMID: 35341987
Staubitz JI, Musholt PB, Musholt TJ
Best Pract Res Clin Endocrinol Metab 2019 Aug;33(4):101292. Epub 2019 Jul 9 doi: 10.1016/j.beem.2019.101292. PMID: 31434622
Krátký J, Vítková H, Bartáková J, Telička Z, Antošová M, Límanová Z, Jiskra J
Physiol Res 2014;63 Suppl 2(Suppl 2):S263-75. doi: 10.33549/physiolres.932818. PMID: 24908232
Pazaitou-Panayiotou K, Michalakis K, Paschke R
Horm Metab Res 2012 Apr;44(4):255-62. Epub 2012 Feb 14 doi: 10.1055/s-0031-1299741. PMID: 22334393

Clinical prediction guides

Li J, Li C, Zhou X, Huang J, Yang P, Cang Y, Zhai H, Huang R, Mu Y, Gou X, Zhang Y, Yu J, Liang P
Radiology 2023 Nov;309(2):e230949. doi: 10.1148/radiol.230949. PMID: 37987664
Yu Z, Li Y, Zhao S, Liu F, Zhao H, Chen ZJ
Hum Reprod 2023 Nov 20;38(Suppl 2):ii57-ii68. doi: 10.1093/humrep/dead106. PMID: 37982420
Shifman BM, Platonova NM, Vasilyev EV, Abdulkhabirova FM, Kachko VA
Crit Rev Oncol Hematol 2022 May;173:103662. Epub 2022 Mar 25 doi: 10.1016/j.critrevonc.2022.103662. PMID: 35341987
Rosol TJ, Witorsch RJ
Regul Toxicol Pharmacol 2021 Aug;124:104961. Epub 2021 May 18 doi: 10.1016/j.yrtph.2021.104961. PMID: 34015422
Krátký J, Vítková H, Bartáková J, Telička Z, Antošová M, Límanová Z, Jiskra J
Physiol Res 2014;63 Suppl 2(Suppl 2):S263-75. doi: 10.33549/physiolres.932818. PMID: 24908232

Recent systematic reviews

Cho SJ, Baek JH, Chung SR, Choi YJ, Lee JH
Endocrinol Metab (Seoul) 2020 Jun;35(2):339-350. Epub 2020 Jun 24 doi: 10.3803/EnM.2020.35.2.339. PMID: 32615718Free PMC Article
Rochau U, Qerimi Rushaj V, Schaffner M, Schönhensch M, Stojkov I, Jahn B, Hubalewska-Dydejczyk A, Erlund I, Thuesen BH, Zimmermann M, Moreno-Reyes R, Lazarus JH, Völzke H, Siebert U
Thyroid 2020 May;30(5):746-758. Epub 2020 Feb 26 doi: 10.1089/thy.2018.0776. PMID: 31964247

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