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Familial nonmedullary thyroid carcinoma

MedGen UID:
502247
Concept ID:
C3501843
Neoplastic Process
Synonym: Non-medullary thyroid carcinoma
 
HPO: HP:0040198
Monarch Initiative: MONDO:0017896
OMIM®: 188550
OMIM® Phenotypic series: PS188550
Orphanet: ORPHA319494

Definition

A rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial nonmedullary thyroid carcinoma

Conditions with this feature

Thyroid cancer, nonmedullary, 5
MedGen UID:
895900
Concept ID:
C4225292
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by Gara et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).
Thyroid cancer, nonmedullary, 3
MedGen UID:
903332
Concept ID:
C4225410
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis 175100, Carney complex 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).
Thyroid cancer, nonmedullary, 2
MedGen UID:
904175
Concept ID:
C4225426
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100, Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (188550).
Thyroid cancer, nonmedullary, 1
MedGen UID:
1648293
Concept ID:
C4721429
Neoplastic Process
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). Genetic Heterogeneity of Susceptibility to Nonmedullary Thyroid Cancer Other susceptibilities to nonmedullary thyroid cancer include NMTC2 (188470), caused by mutation in the SRGAP1 gene (606523); NMTC3 (606240), mapped to chromosome 2q21; NMTC4 (616534), caused by mutation in the FOXE1 gene (602617); and NMTC5 (616535), caused by mutation in the HABP2 gene (603924). A susceptibility locus for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p.

Professional guidelines

PubMed

Jiang YJ, Han ZJ, Hu YX, Zhang N, Huang T
Front Endocrinol (Lausanne) 2023;14:1282088. Epub 2023 Nov 29 doi: 10.3389/fendo.2023.1282088. PMID: 38093963Free PMC Article
Uchino S, Noguchi S, Yamashita H, Murakami T, Watanabe S, Ogawa T, Tsuno A, Shuto S
World J Surg 2004 Nov;28(11):1099-102. doi: 10.1007/s00268-004-7676-x. PMID: 15490050

Recent clinical studies

Etiology

de Carlos Artajo J, Irigaray Echarri A, García Torres J, Pineda Arribas JJ, Ernaga Lorea A, Eguílaz Esparza N, Zubiría Gortázar JM, Anda Apiñániz E
Endocrinol Diabetes Nutr (Engl Ed) 2022 Apr;69(4):262-270. Epub 2022 Mar 16 doi: 10.1016/j.endien.2022.03.003. PMID: 35353680
Zhang YB, Wang XX, Zhang XW, Li ZJ, Liu J, Xu ZG, Tang PZ
Chin Med J (Engl) 2018 Feb 20;131(4):395-401. doi: 10.4103/0366-6999.225054. PMID: 29451143Free PMC Article
Zhang Q, Yang S, Meng XY, Chen G, Pang RZ
World J Surg 2016 Mar;40(3):570-3. doi: 10.1007/s00268-015-3342-8. PMID: 26711636
Mazeh H, Sippel RS
Thyroid 2013 Sep;23(9):1049-56. Epub 2013 Aug 3 doi: 10.1089/thy.2013.0079. PMID: 23734600
Malchoff CD, Malchoff DM
Cancer Control 2006 Apr;13(2):106-10. doi: 10.1177/107327480601300204. PMID: 16735984

Diagnosis

de Carlos Artajo J, Irigaray Echarri A, García Torres J, Pineda Arribas JJ, Ernaga Lorea A, Eguílaz Esparza N, Zubiría Gortázar JM, Anda Apiñániz E
Endocrinol Diabetes Nutr (Engl Ed) 2022 Apr;69(4):262-270. Epub 2022 Mar 16 doi: 10.1016/j.endien.2022.03.003. PMID: 35353680
Zhang Q, Yang S, Meng XY, Chen G, Pang RZ
World J Surg 2016 Mar;40(3):570-3. doi: 10.1007/s00268-015-3342-8. PMID: 26711636
Wang X, Cheng W, Li J, Su A, Wei T, Liu F, Zhu J
Eur J Endocrinol 2015 Jun;172(6):R253-62. Epub 2015 Jan 30 doi: 10.1530/EJE-14-0960. PMID: 25637073
Mazeh H, Sippel RS
Thyroid 2013 Sep;23(9):1049-56. Epub 2013 Aug 3 doi: 10.1089/thy.2013.0079. PMID: 23734600
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764

Therapy

de Randamie R, Martos-Moreno GÁ, Lumbreras C, Chueca M, Donnay S, Luque M, Regojo RM, Mendiola M, Hardisson D, Argente J, Moreno JC
Horm Res Paediatr 2018;89(6):397-407. Epub 2018 Jun 12 doi: 10.1159/000487395. PMID: 29895015

Prognosis

de Carlos Artajo J, Irigaray Echarri A, García Torres J, Pineda Arribas JJ, Ernaga Lorea A, Eguílaz Esparza N, Zubiría Gortázar JM, Anda Apiñániz E
Endocrinol Diabetes Nutr (Engl Ed) 2022 Apr;69(4):262-270. Epub 2022 Mar 16 doi: 10.1016/j.endien.2022.03.003. PMID: 35353680
Zhang YB, Wang XX, Zhang XW, Li ZJ, Liu J, Xu ZG, Tang PZ
Chin Med J (Engl) 2018 Feb 20;131(4):395-401. doi: 10.4103/0366-6999.225054. PMID: 29451143Free PMC Article
Zhou YM, Luo H, Gou JX, Zhao WJ, Dai WY, Zhu J, Li ZH
Eur J Surg Oncol 2017 Dec;43(12):2248-2256. Epub 2017 Sep 12 doi: 10.1016/j.ejso.2017.09.005. PMID: 28942234
Wang X, Cheng W, Li J, Su A, Wei T, Liu F, Zhu J
Eur J Endocrinol 2015 Jun;172(6):R253-62. Epub 2015 Jan 30 doi: 10.1530/EJE-14-0960. PMID: 25637073
Mazeh H, Sippel RS
Thyroid 2013 Sep;23(9):1049-56. Epub 2013 Aug 3 doi: 10.1089/thy.2013.0079. PMID: 23734600

Clinical prediction guides

Mazeh H, Sippel RS
Thyroid 2013 Sep;23(9):1049-56. Epub 2013 Aug 3 doi: 10.1089/thy.2013.0079. PMID: 23734600
Malchoff CD, Malchoff DM
Cancer Control 2006 Apr;13(2):106-10. doi: 10.1177/107327480601300204. PMID: 16735984
Uchino S, Noguchi S, Kawamoto H, Yamashita H, Watanabe S, Yamashita H, Shuto S
World J Surg 2002 Aug;26(8):897-902. Epub 2002 Apr 30 doi: 10.1007/s00268-002-6615-y. PMID: 11965446
Lesueur F, Stark M, Tocco T, Ayadi H, Delisle MJ, Goldgar DE, Schlumberger M, Romeo G, Canzian F
J Clin Endocrinol Metab 1999 Jun;84(6):2157-62. doi: 10.1210/jcem.84.6.5798. PMID: 10372725
Loh KC
Thyroid 1997 Feb;7(1):107-13. doi: 10.1089/thy.1997.7.107. PMID: 9086578

Recent systematic reviews

Wang X, Cheng W, Li J, Su A, Wei T, Liu F, Zhu J
Eur J Endocrinol 2015 Jun;172(6):R253-62. Epub 2015 Jan 30 doi: 10.1530/EJE-14-0960. PMID: 25637073

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