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Familial papillary thyroid carcinoma with renal papillary neoplasia

MedGen UID:
381339
•Concept ID:
C1854104
•
Neoplastic Process
Synonym: Thyroid carcinoma, papillary, with papillary renal neoplasia
SNOMED CT: Papillary thyroid carcinoma with renal papillary neoplasia (717734005)
 
Monarch Initiative: MONDO:0011578
OMIM®: 605642
Orphanet: ORPHA97290

Definition

An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial papillary thyroid carcinoma with renal papillary neoplasia
Follow this link to review classifications for Familial papillary thyroid carcinoma with renal papillary neoplasia in Orphanet.

Professional guidelines

PubMed

Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
Familial nonmedullary thyroid cancer: screening, clinical, molecular and genetic findings.
Navas-Carrillo D, Ríos A, Rodríguez JM, Parrilla P, Orenes-Piñero E
Biochim Biophys Acta 2014 Dec;1846(2):468-76. Epub 2014 Sep 11 doi: 10.1016/j.bbcan.2014.09.002. PMID: 25218916
Advances in renal neoplasia: recommendations from the 2012 International Society of Urological Pathology Consensus Conference.
Delahunt B, Srigley JR, Montironi R, Egevad L
Urology 2014 May;83(5):969-74. Epub 2014 Mar 22 doi: 10.1016/j.urology.2014.02.004. PMID: 24661331

Recent clinical studies

Etiology

Hereditary and familial thyroid tumours.
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma.
Toledo SP, Lourenço DM Jr, Santos MA, Tavares MR, Toledo RA, Correia-Deur JE
Clinics (Sao Paulo) 2009;64(7):699-706. doi: 10.1590/S1807-59322009000700015. PMID: 19606248Free PMC Article
Familial thyroid carcinoma: a diagnostic algorithm.
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764
Familial non-medullary thyroid carcinoma: an update.
Nosé V
Endocr Pathol 2008 Winter;19(4):226-40. doi: 10.1007/s12022-008-9045-z. PMID: 18931957

Diagnosis

Hereditary and familial thyroid tumours.
Guilmette J, Nosé V
Histopathology 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. PMID: 29239041
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
Familial nonmedullary thyroid cancer: screening, clinical, molecular and genetic findings.
Navas-Carrillo D, Ríos A, Rodríguez JM, Parrilla P, Orenes-Piñero E
Biochim Biophys Acta 2014 Dec;1846(2):468-76. Epub 2014 Sep 11 doi: 10.1016/j.bbcan.2014.09.002. PMID: 25218916
Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma.
Toledo SP, Lourenço DM Jr, Santos MA, Tavares MR, Toledo RA, Correia-Deur JE
Clinics (Sao Paulo) 2009;64(7):699-706. doi: 10.1590/S1807-59322009000700015. PMID: 19606248Free PMC Article
Familial thyroid carcinoma: a diagnostic algorithm.
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764

Therapy

The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H
Exp Mol Med 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. PMID: 31221981Free PMC Article
Higher body weight and distant metastasis are associated with higher radiation exposure to the household environment from patients with thyroid cancer after radioactive iodine therapy.
Kuo SF, Ho TY, Liou MJ, Lin KJ, Cheng RC, Chan SC, Huang BY, Ng SC, Liu FH, Chang HY, Hsieh SH, Chiang KC, Chen HY, Lo TY, Lin CL, Lin JD
Medicine (Baltimore) 2017 Sep;96(35):e7942. doi: 10.1097/MD.0000000000007942. PMID: 28858122Free PMC Article
The Resection of Thyroid Cancer Was Associated with the Resolution of Hyporesponsiveness to an Erythropoiesis-stimulating Agent in a Hemodialysis Patient with Aceruloplasminemia.
Nagata S, Ikegaya N, Ogino S, Uchida S, Itaya M, Momita A, Shinozaki S, Ohura M, Kuriki K, Kono S, Miyajima H, Hishida A
Intern Med 2017;56(7):805-810. Epub 2017 Apr 1 doi: 10.2169/internalmedicine.56.7455. PMID: 28381747Free PMC Article
Development of RET kinase inhibitors for targeted cancer therapy.
Mologni L
Curr Med Chem 2011;18(2):162-75. doi: 10.2174/092986711794088308. PMID: 21110809
Rhabdomyolysis after withdrawal of thyroid hormone in a patient with papillary thyroid cancer.
Espiritu RP, Stan MN
Endocr Pract 2008 Nov;14(8):1023-6. doi: 10.4158/EP.14.8.1023. PMID: 19095604

Prognosis

Pan-cancer analysis identifies the immunological and prognostic role of PAK4.
Tang L, Gao Y, Li T
Life Sci 2023 Jan 1;312:121263. Epub 2022 Dec 2 doi: 10.1016/j.lfs.2022.121263. PMID: 36470541
The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H
Exp Mol Med 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. PMID: 31221981Free PMC Article
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
Familial nonmedullary thyroid cancer: screening, clinical, molecular and genetic findings.
Navas-Carrillo D, Ríos A, Rodríguez JM, Parrilla P, Orenes-Piñero E
Biochim Biophys Acta 2014 Dec;1846(2):468-76. Epub 2014 Sep 11 doi: 10.1016/j.bbcan.2014.09.002. PMID: 25218916
RET and neuroendocrine tumors.
Murakumo Y, Jijiwa M, Asai N, Ichihara M, Takahashi M
Pituitary 2006;9(3):179-92. doi: 10.1007/s11102-006-0263-4. PMID: 17036197

Clinical prediction guides

The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism.
Chang S, Yim S, Park H
Exp Mol Med 2019 Jun 20;51(6):1-17. doi: 10.1038/s12276-019-0230-6. PMID: 31221981Free PMC Article
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
Higher body weight and distant metastasis are associated with higher radiation exposure to the household environment from patients with thyroid cancer after radioactive iodine therapy.
Kuo SF, Ho TY, Liou MJ, Lin KJ, Cheng RC, Chan SC, Huang BY, Ng SC, Liu FH, Chang HY, Hsieh SH, Chiang KC, Chen HY, Lo TY, Lin CL, Lin JD
Medicine (Baltimore) 2017 Sep;96(35):e7942. doi: 10.1097/MD.0000000000007942. PMID: 28858122Free PMC Article
Familial renal cell carcinoma from the Swedish Family-Cancer Database.
Liu H, Sundquist J, Hemminki K
Eur Urol 2011 Nov;60(5):987-93. Epub 2011 May 25 doi: 10.1016/j.eururo.2011.05.031. PMID: 21621909
Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome.
Malchoff CD, Sarfarazi M, Tendler B, Forouhar F, Whalen G, Joshi V, Arnold A, Malchoff DM
J Clin Endocrinol Metab 2000 May;85(5):1758-64. doi: 10.1210/jcem.85.5.6557. PMID: 10843148

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