Entry

H00032                      Disease

Name

Thyroid cancer

Subgroup

Nonmedullary thyroid cancer (NMTC)

Supergrp

Solid tumor [DS:H02421]

Description

Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells. Their behavior varies from the indolent growing, well-differentiated papillary and follicular carcinomas (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. The most distinctive molecular features of FTC are the prominence of aneuploidy and the high prevalence of RAS mutations and PAX8-PPAR{gamma} rearrangements. p53 seems to play a crucial role in the dedifferentiation process of thyroid carcinoma.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of endocrine organs
   H00032  Thyroid cancer
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of endocrine glands
     2D10  Malignant neoplasms of thyroid gland
      H00032  Thyroid cancer
Tumor markers [br08442.html]
H00032

Pathway

hsa05216

Thyroid cancer

Network

nt06274 Thyroid cancer

Gene

RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288]
RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289]
TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290]
TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290]
TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290]
PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530]
KRAS [HSA:3845] [KO:K07827]
HRAS [HSA:3265] [KO:K02833]
NRAS [HSA:4893] [KO:K07828]
BRAF [HSA:673] [KO:K04365]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
CDH1 [HSA:999] [KO:K05689]
MINPP1 [HSA:9562] [KO:K03103]
(NMTC1) NKX2-1 [HSA:7080] [KO:K09342]
(NMTC2) SRGAP1 [HSA:57522] [KO:K07526]
(NMTC4) FOXE1 [HSA:2304] [KO:K09398]
(NMTC5) HABP2 [HSA:3026] [KO:K08648]

Drug

Doxorubicin hydrochloride [DR:D01275]
Dabrafenib mesylate [DR:D10104] (BRAF mutation positive)
Trametinib dimethyl sulfoxide [DR:D10176] (BRAF mutation positive)
Sorafenib tosylate [DR:D06272]
Cabozantinib s-malate [DR:D10095]
Lenvatinib mesylate [DR:D09920]
Selpercatinib [DR:D11713] (RET fusion positive)
Pralsetinib [DR:D11712] (RET fusion positive)
Sodium iodide I 131 [DR:D02259]
Thyroid [DR:D06482]

Other DBs

ICD-11:

2D10

ICD-10:

C73

MeSH:

D013964

OMIM:

188550 188470 616534 616535

Reference

PMID:11165748

Authors

Gimm O.

Title

Thyroid cancer.

Journal

Cancer Lett 163:143-56 (2001)
DOI:10.1016/S0304-3835(00)00697-2

Reference

PMID:16557281 (RET/CCDC6, TPM3/NTRK1, TPR/NTRK1, TFG/NTRK1, BRAF, CTNNB1, TP53, CDH1)

Authors

Kondo T, Ezzat S, Asa SL.

Title

Pathogenetic mechanisms in thyroid follicular-cell neoplasia.

Journal

Nat Rev Cancer 6:292-306 (2006)
DOI:10.1038/nrc1836

Reference

PMID:16189702 (RET/CCDC6, RET/NCOA4, PAX8/PPARG, KRAS, HRAS, NRAS)

Authors

Sobrinho-Simoes M, Preto A, Rocha AS, Castro P, Maximo V, Fonseca E, Soares P.

Title

Molecular pathology of well-differentiated thyroid carcinomas.

Journal

Virchows Arch 447:787-93 (2005)
DOI:10.1007/s00428-005-0065-5

Reference

PMID:11297621 (MINPP1)

Authors

Gimm O, Chi H, Dahia PL, Perren A, Hinze R, Komminoth P, Dralle H, Reynolds PR, Eng C

Title

Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.

Journal

J Clin Endocrinol Metab 86:1801-5 (2001)
DOI:10.1210/jcem.86.4.7419

Reference

PMID:19176457 (NMTC1)

Authors

Ngan ES, Lang BH, Liu T, Shum CK, So MT, Lau DK, Leon TY, Cherny SS, Tsai SY, Lo CY, Khoo US, Tam PK, Garcia-Barcelo MM

Title

A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma.

Journal

J Natl Cancer Inst 101:162-75 (2009)
DOI:10.1093/jnci/djn471

Reference

PMID:23539728 (NMTC2)

Authors

He H, Bronisz A, Liyanarachchi S, Nagy R, Li W, Huang Y, Akagi K, Saji M, Kula D, Wojcicka A, Sebastian N, Wen B, Puch Z, Kalemba M, Stachlewska E, Czetwertynska M, Dlugosinska J, Dymecka K, Ploski R, Krawczyk M, Morrison PJ, Ringel MD, Kloos RT, Jazdzewski K, Symer DE, Vieland VJ, Ostrowski M, Jarzab B, de la Chapelle A

Title

SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.

Journal

J Clin Endocrinol Metab 98:E973-80 (2013)
DOI:10.1210/jc.2012-3823

Reference

PMID:25381600 (NMTC4)

Authors

Pereira JS, da Silva JG, Tomaz RA, Pinto AE, Bugalho MJ, Leite V, Cavaco BM

Title

Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC).

Journal

Endocrine 49:204-14 (2015)
DOI:10.1007/s12020-014-0470-0

Reference

PMID:26222560 (NMTC5)

Authors

Gara SK, Jia L, Merino MJ, Agarwal SK, Zhang L, Cam M, Patel D, Kebebew E

Title

Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer.

Journal

N Engl J Med 373:448-55 (2015)
DOI:10.1056/NEJMoa1502449

DISEASE: Thyroid cancer