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	anaplastic thyroid carcinoma

Disease ID	1064
Disease	anaplastic thyroid carcinoma
Definition	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.
Synonym	anaplastic cancer thyroid anaplastic carcinoma of the thyroid anaplastic carcinoma of the thyroid gland anaplastic carcinoma of thyroid anaplastic carcinoma of thyroid gland anaplastic carcinoma thyroid anaplastic thyroid cancer anaplastic thyroid cancers anaplastic thyroid carcinoma (disorder) anaplastic thyroid carcinomas anaplastic thyroid gland carcinoma cancer thyroid undifferentiated cancer, anaplastic thyroid cancers, anaplastic thyroid carcinoma, anaplastic thyroid carcinomas, anaplastic thyroid dedifferentiated thyroid gland carcinoma metaplastic thyroid gland carcinoma pleomorphic thyroid gland carcinoma sarcomatoid thyroid gland carcinoma thyroid anaplastic carcinoma thyroid cancer anaplastic thyroid cancer, anaplastic thyroid cancer, anaplastic carcinoma thyroid cancer, undifferentiated carcinoma thyroid cancers, anaplastic thyroid carcinoma, anaplastic thyroid carcinoma, anaplastic [disease/finding] thyroid carcinomas, anaplastic thyroid gland carcinosarcoma thyroid gland undifferentiated (anaplastic) carcinoma thyroid, carcinoma, anaplastic thyroid, carcinoma, simplex thyroid, carcinoma, undifferentiated undifferentiated (anaplastic) thyroid gland carcinoma undifferentiated carcinoma of the thyroid undifferentiated carcinoma of the thyroid gland undifferentiated carcinoma of thyroid undifferentiated carcinoma of thyroid gland undifferentiated thyroid cancer undifferentiated thyroid carcinoma undifferentiated thyroid gland carcinoma
Orphanet	ORPHANET:142
DOID	DOID:7012
UMLS	C0238461
MeSH	D065646
SNOMED-CT	SNOMEDCT_US_2016_09_01:255031003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0205696 \| anaplastic carcinoma \| 3 C0238461 \| anaplastic carcinoma of the thyroid \| 3 C0006142 \| breast cancer \| 1 C0001430 \| adenoma \| 1 C0007115 \| thyroid cancer \| 1 C0153687 \| skin metastasis \| 1 C0034186 \| pyelonephritis \| 1 C0007140 \| carcinosarcoma \| 1 C0018021 \| goiter \| 1 C0007104 \| carcinoma of the breast \| 1 C0018213 \| graves' disease \| 1 C0153676 \| lung metastases \| 1 C0238461 \| anaplastic carcinoma of the thyroid gland \| 1 C0520575 \| acute pyelonephritis \| 1 C0007115 \| thyroid ca \| 1 C0678222 \| carcinoma breast \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 7157 \| TP53 \| CLINVAR 6648 \| SOD2 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1064
Disease	anaplastic thyroid carcinoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0002094 \| Dyspnea HP:0010622 \| Neoplasm of the skeletal system HP:0002015 \| Dysphagia HP:0001824 \| Weight loss HP:0012531 \| Pain HP:0002575 \| Tracheoesophageal fistula HP:0002781 \| Upper airway obstruction HP:0100836 \| Malignant neoplasm of the central nervous system HP:0002098 \| Respiratory distress HP:0004894 \| Laryngotracheal stenosis HP:0011779 \| Anaplastic thyroid carcinoma HP:0002716 \| Lymphadenopathy HP:0100526 \| Neoplasm of the lung HP:0001605 \| Vocal cord paralysis HP:0005994 \| Nodular goiter HP:0002105 \| Hemoptysis HP:0001609 \| Hoarse voice HP:0001618 \| Dysphonia HP:0010307 \| Stridor HP:0011805 \| Abnormality of muscle morphology HP:0012735 \| Cough HP:0000853 \| Goiter HP:0000475 \| Broad neck
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002664 \| Neoplasia \| 3 HP:0001974 \| Leukocytosis \| 1 HP:0000853 \| Goitre \| 1 HP:0011029 \| Internal bleeding \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0008249 \| Large thyroid \| 1 HP:0030731 \| Carcinoma \| 1 HP:0012330 \| Pyelonephritis \| 1 HP:0100013 \| Tumours of the breast \| 1 HP:0003073 \| Hypoalbuminaemia \| 1 HP:0003002 \| Breast carcinoma \| 1

Disease ID	1064
Disease	anaplastic thyroid carcinoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C1384672 \| hypoparathyroidism C0153676 \| lung metastasis C0040156 \| thyrotoxicosis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:23)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	25576899	7157	TP53	umls:C0238461	BeFree	BRAF V600E and RAS mutations were mutually exclusive; all ATC cell lines exhibited a combination of mutations in either BRAF and TP53 or NRAS and TP53.	0.128414698	2016	BRAF	7	140753336	A	T,G,C
rs113488022	24295207	673	BRAF	umls:C0238461	BeFree	The next generation of orthotopic thyroid cancer models: immunocompetent orthotopic mouse models of BRAF V600E-positive papillary and anaplastic thyroid carcinoma.	0.007871814	2015	BRAF	7	140753336	A	T,G,C
rs113488022	17465858	673	BRAF	umls:C0238461	BeFree	Three of the lines carried a heterozygous BRAF mutation V600E, which is in line with reports of BRAF mutations in primary ATC and papillary thyroid cancer.	0.007871814	2007	BRAF	7	140753336	A	T,G,C
rs113488022	25576899	673	BRAF	umls:C0238461	BeFree	BRAF V600E and RAS mutations were mutually exclusive; all ATC cell lines exhibited a combination of mutations in either BRAF and TP53 or NRAS and TP53.	0.007871814	2016	BRAF	7	140753336	A	T,G,C
rs113488022	16533790	673	BRAF	umls:C0238461	BeFree	We used RNA interference to evaluate the effect of BRAF knockdown in the human anaplastic thyroid carcinoma cell lines FRO and ARO carrying the BRAF V600E (V600EBRAF) mutation.	0.007871814	2006	BRAF	7	140753336	A	T,G,C
rs113488022	16533790	1588	CYP19A1	umls:C0238461	BeFree	We used RNA interference to evaluate the effect of BRAF knockdown in the human anaplastic thyroid carcinoma cell lines FRO and ARO carrying the BRAF V600E (V600EBRAF) mutation.	0.002985861	2006	BRAF	7	140753336	A	T,G,C
rs113488022	24770869	5290	PIK3CA	umls:C0238461	BeFree	Combined, these data demonstrate that the BRAF(V600E) cooperates with either PIK3CA(H1074R) or with silencing of the tumor-suppressor PTEN, to promote development of anaplastic thyroid carcinoma.	0.003800186	2015	BRAF	7	140753336	A	T,G,C
rs113488022	21900390	27352	SGSM3	umls:C0238461	BeFree	Additionally, preclinical and clinical studies investigating combination therapy with agents such as selective (PLX 4032) and potent (BAY 73-4506 and ARQ 736) small-molecule BRAF inhibitors and MAP/extracellular signal-regulated kinase (ERK) kinase inhibitors (AZD6244) hold great promise in the treatment of BRAF(V600E) cancers and may eventually play a powerful role in changing the clinical course of PTC and ATC.	0.000542884	2011	BRAF	7	140753336	A	T,G,C
rs113488022	19156774	673	BRAF	umls:C0238461	BeFree	BRAF(V600E) mutation was detected in 20 of 43 PTCs and all three anaplastic thyroid carcinomas (ATCs).	0.007871814	2009	BRAF	7	140753336	A	T,G,C
rs113488022	21900390	673	BRAF	umls:C0238461	BeFree	Additionally, preclinical and clinical studies investigating combination therapy with agents such as selective (PLX 4032) and potent (BAY 73-4506 and ARQ 736) small-molecule BRAF inhibitors and MAP/extracellular signal-regulated kinase (ERK) kinase inhibitors (AZD6244) hold great promise in the treatment of BRAF(V600E) cancers and may eventually play a powerful role in changing the clinical course of PTC and ATC.	0.007871814	2011	BRAF	7	140753336	A	T,G,C
rs113488022	17453004	673	BRAF	umls:C0238461	BeFree	BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas.	0.007871814	2007	BRAF	7	140753336	A	T,G,C
rs113488022	24770869	5728	PTEN	umls:C0238461	BeFree	Combined, these data demonstrate that the BRAF(V600E) cooperates with either PIK3CA(H1074R) or with silencing of the tumor-suppressor PTEN, to promote development of anaplastic thyroid carcinoma.	0.001085767	2015	BRAF	7	140753336	A	T,G,C
rs113488022	23746767	673	BRAF	umls:C0238461	BeFree	BRAF(V600E) mutations were identified in 22.2% of the carcinoma cases (n = 18, 15 PTCs and 3 anaplastic thyroid carcinomas).	0.007871814	2013	BRAF	7	140753336	A	T,G,C
rs113488022	25584719	7015	TERT	umls:C0238461	BeFree	Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, older patient age, and distant metastasis in anaplastic thyroid cancer.	0.002171535	2015	BRAF	7	140753336	A	T,G,C
rs113488022	23775351	673	BRAF	umls:C0238461	BeFree	First, absent/faint staining for BRAF V600E correlates perfectly with the lack of the BRAF(T1799A) mutation, whereas strong staining is highly specific for the BRAF(T1799A) mutation in PTCs, PDTCs, and ATCs.	0.007871814	2013	BRAF	7	140753336	A	T,G,C
rs113488022	24770869	673	BRAF	umls:C0238461	BeFree	Combined, these data demonstrate that the BRAF(V600E) cooperates with either PIK3CA(H1074R) or with silencing of the tumor-suppressor PTEN, to promote development of anaplastic thyroid carcinoma.	0.007871814	2015	BRAF	7	140753336	A	T,G,C
rs113488022	21221869	673	BRAF	umls:C0238461	BeFree	Molecular studies have shown that the BRAF V600E mutation is found mainly in papillary and anaplastic thyroid carcinomas.	0.007871814	2011	BRAF	7	140753336	A	T,G,C
rs113488022	17989125	673	BRAF	umls:C0238461	BeFree	BRAF V600E mutation was identified in nine of 36 (25%) ATCs; seven cases had identical mutations in both the ATC and DTC components.	0.007871814	2008	BRAF	7	140753336	A	T,G,C
rs113488022	25347569	673	BRAF	umls:C0238461	BeFree	Beyond development, we can look into the effectiveness of already approved targeted therapies (eg, anti-BRAF(V600E) selective inhibitors, tyrosine kinase inhibitors, histone deacetylase inhibitors, inhibitors of DNA methylation, etc) to potentially test in ATC after learning the molecular mechanisms that aid in tumor progression.	0.007871814	2015	BRAF	7	140753336	A	T,G,C
rs113488022	25584719	673	BRAF	umls:C0238461	BeFree	Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, older patient age, and distant metastasis in anaplastic thyroid cancer.	0.007871814	2015	BRAF	7	140753336	A	T,G,C
rs121912651	15899946	4176	MCM7	umls:C0238461	BeFree	Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongly down-regulated transcription from the MCM7 promoter, suggesting that p53 knock-out contributes to MCM7 up-regulation in ATC.	0.000271442	2005	TP53	17	7674221	G	A
rs28934576	NA	7157	TP53	umls:C0238461	CLINVAR	NA	0.128414698	NA	TP53	17	7673802	C	T,A
rs28934576	15899946	4176	MCM7	umls:C0238461	BeFree	Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongly down-regulated transcription from the MCM7 promoter, suggesting that p53 knock-out contributes to MCM7 up-regulation in ATC.	0.000271442	2005	TP53	17	7673802	C	T,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100526	Neoplasm of the lung	MP:0004500	increased incidence of tumors by ionizing radiation induction	higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
HP:0001605	Vocal cord paralysis	MP:0000756	forelimb paralysis	loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply
HP:0010622	Neoplasm of the skeletal system	MP:0010287	increased reproductive system tumor incidence	greater than the expected number of tumors originating in the reproductive system in a given population in a given time period
HP:0002098	Respiratory distress	MP:0001954	respiratory distress	physical difficulty or inability to breathe; shortness of breath
HP:0002575	Tracheoesophageal fistula	MP:0003321	tracheoesophageal fistula	an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:20)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012531	Pain	MP:0011968	decreased threshold for auditory brainstem response	reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system
HP:0012735	Cough	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0010622	Neoplasm of the skeletal system	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0010307	Stridor	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0001609	Hoarse voice	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002098	Respiratory distress	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0004894	Laryngotracheal stenosis	MP:0012157	rostral body truncation	rostral part of body truncated; typically with the caudal portion of the body relatively normal
HP:0000475	Broad neck	MP:0012307	impaired spatial learning	impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues
HP:0002015	Dysphagia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002716	Lymphadenopathy	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0001618	Dysphonia	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0000853	Goiter	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002781	Upper airway obstruction	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0100526	Neoplasm of the lung	MP:0014179	abnormal blood-retinal barrier function	anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0001605	Vocal cord paralysis	MP:0013438	dysmyelination	reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
HP:0005994	Nodular goiter	MP:0013006	abnormal enteric neural crest cell migration	any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t
HP:0002575	Tracheoesophageal fistula	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002105	Hemoptysis	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)

Disease ID	1064
Disease	anaplastic thyroid carcinoma
Case	(Waiting for update.)