Details of Disease

Disease Name

Carcinoid tumor

neuroendocrine neoplasm G1; neuroendocrine tumor G1; carcinoid; neuroendocrine tumour G1; carcinoid tumour (disease); NET G1; carcinoid tumor (disease); carcinoid tumor

Definition

A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.|Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources

Disease Hierarchy

DISNPLOO: Neuroendocrine neoplasm

DISMNRDC: Carcinoid tumor

Disease Identifiers

MONDO ID

MONDO_0005369

MESH ID

D002276

UMLS CUI

C0007095

MedGen ID

2838

HPO ID

HP:0100570

SNOMED CT ID

189607006

General Information of Disease (ID: DISMNRDC)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 23 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDKN1A	TT9GUW0	Limited	Altered Expression	[1]
DLL3	TT1C9K6	Limited	Altered Expression	[2]
PAX5	TTA4REJ	Limited	Biomarker	[3]
SST	TTWF7UG	Limited	Biomarker	[4]
SSTR5	TT2BC4G	Limited	Altered Expression	[5]
ATP1A2	TT5B6HJ	moderate	Genetic Variation	[6]
SDHD	TTVH9W8	moderate	Biomarker	[7]
SLC6A2	TTAWNKZ	moderate	Genetic Variation	[8]
SSTR1	TTIND6G	moderate	Altered Expression	[5]
AMY2A	TTCGSZ4	Strong	Biomarker	[9]
ATP4A	TTF1QVM	Strong	Genetic Variation	[10]
CDKN1B	TTLGFVW	Strong	Biomarker	[11]
CHRNA7	TTLA931	Strong	Altered Expression	[12]
CPE	TTXPWO6	Strong	Altered Expression	[13]
CRTC1	TT4GO0F	Strong	Biomarker	[14]
ELK3	TT5OJMV	Strong	Genetic Variation	[8]
EPHB1	TT8MDAC	Strong	Genetic Variation	[8]
FZD7	TTUQMO5	Strong	Biomarker	[15]
GAST	TT4LRVO	Strong	Altered Expression	[16]
HTR2B	TT0K1SC	Strong	Biomarker	[17]
MYCBP	TTVW4XU	Strong	Altered Expression	[9]
RTN4	TT7GXMU	Strong	Biomarker	[18]
CCKBR	TTVFO0U	Definitive	Biomarker	[19]
------------------------------------------------------------------------------------


⏷ Show the Full List of 23 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC18A1	DTM953D	Strong	Biomarker	[20]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BAAT	DERA3OF	Strong	Genetic Variation	[21]
DIO3	DET89OV	Strong	Genetic Variation	[22]
IPMK	DESA9EX	Strong	Genetic Variation	[23]
------------------------------------------------------------------------------------

This Disease Is Related to 36 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INTS2	OT2N5TCK	Limited	Biomarker	[24]
KIF16B	OTDWIFQ2	Limited	Genetic Variation	[25]
NUTM1	OTONYC08	Limited	Genetic Variation	[26]
DAD1	OTUUNQBT	moderate	Genetic Variation	[27]
GRP	OT8JDFNI	moderate	Biomarker	[28]
MAGED2	OTMEWNSE	moderate	Biomarker	[29]
OTP	OTS0JN6Y	moderate	Altered Expression	[30]
POLQ	OTBHK0E6	moderate	Genetic Variation	[31]
RAB38	OTU0NZU0	moderate	Genetic Variation	[6]
RAD51C	OTUD6SY5	moderate	Genetic Variation	[6]
AMY1A	OT6G4B8O	Strong	Altered Expression	[9]
AMY2B	OTG93YV0	Strong	Biomarker	[9]
APLP1	OTD176ZS	Strong	Biomarker	[32]
ASCL1	OTI4X44G	Strong	Biomarker	[33]
CARTPT	OTTE4V9S	Strong	Altered Expression	[34]
CDHR1	OT1ORXCM	Strong	Altered Expression	[35]
CLDN2	OTRF3D6Y	Strong	Biomarker	[36]
HOXC6	OTBCRAZV	Strong	Biomarker	[37]
ISL1	OTVNVKAX	Strong	Altered Expression	[38]
NAPSA	OT6F8IAL	Strong	Altered Expression	[39]
NMB	OT4NLN6H	Strong	Biomarker	[40]
OR51E1	OTB7Q65H	Strong	Biomarker	[41]
PAK3	OT80M3BV	Strong	Altered Expression	[42]
PIK3IP1	OTWE5G4T	Strong	Altered Expression	[43]
PIP	OTH719AH	Strong	Genetic Variation	[44]
POU3F2	OT30NFOC	Strong	Altered Expression	[45]
PRKD2	OTIFSVI8	Strong	Biomarker	[46]
PTPRN	OTAP7NOL	Strong	Altered Expression	[47]
RTN1	OTCX1SMK	Strong	Biomarker	[18]
SIM2	OT0QWHK4	Strong	Biomarker	[48]
SPECC1	OTPEML48	Strong	Biomarker	[18]
SYP	OTFJKMO4	Strong	Biomarker	[10]
TTF1	OT4K90WD	Strong	Altered Expression	[38]
ATG12	OTJRO09Y	Definitive	Biomarker	[49]
NKX2-1	OTCMEJTA	Definitive	Biomarker	[50]
SCTR	OTC80IMR	Definitive	Altered Expression	[51]
------------------------------------------------------------------------------------


⏷ Show the Full List of 36 DOT(s)

References

1	p21 and p27 immunoexpression in gastric well differentiated endocrine tumors (ECL-cell carcinoids).World J Gastroenterol. 2006 Oct 21;12(39):6280-4. doi: 10.3748/wjg.v12.i39.6280.
2	Integrative and comparative genomic analyses identify clinicallyrelevant pulmonary carcinoidgroups and unveil the supra-carcinoids.Nat Commun. 2019 Aug 20;10(1):3407. doi: 10.1038/s41467-019-11276-9.
3	Novel Finding of Paired Box 5 (PAX5) Cytoplasmic Staining in Well-differentiated Rectal Neuroendocrine Tumors (Carcinoids) and Its Diagnostic and Potentially Prognostic Utility.Appl Immunohistochem Mol Morphol. 2019 Jul;27(6):454-460. doi: 10.1097/PAI.0000000000000635.
4	Peptide Receptor Radionuclide Therapy for Patients With Advanced Lung Carcinoids.Clin Lung Cancer. 2019 May;20(3):e376-e392. doi: 10.1016/j.cllc.2019.02.007. Epub 2019 Mar 1.
5	Somatostatin Receptor Expression Is Associated With Metastasis and Patient Outcome in Pulmonary Carcinoid Tumors.J Clin Endocrinol Metab. 2019 Jun 1;104(6):2083-2093. doi: 10.1210/jc.2018-01931.
6	Pathways Impacted by Genomic Alterations in Pulmonary Carcinoid Tumors.Clin Cancer Res. 2018 Apr 1;24(7):1691-1704. doi: 10.1158/1078-0432.CCR-17-0252. Epub 2018 Jan 19.
7	Clinicopathological characteristics and survival outcomes of bladder neuroendocrine carcinomas: a population-based study.Cancer Manag Res. 2018 Oct 11;10:4479-4489. doi: 10.2147/CMAR.S175286. eCollection 2018.
8	Two cases of lung neuroendocrine carcinoma with carcinoid morphology.Diagn Pathol. 2019 Sep 12;14(1):104. doi: 10.1186/s13000-019-0886-1.
9	A novel type of human alpha-amylase produced in lung carcinoid tumor.Gene. 1989 Mar 15;76(1):11-8. doi: 10.1016/0378-1119(89)90003-6.
10	ECL-cell carcinoids and carcinoma in patients homozygous for an inactivating mutation in the gastric H(+) K(+) ATPase alpha subunit.APMIS. 2016 Jul;124(7):561-6. doi: 10.1111/apm.12546. Epub 2016 May 6.
11	Expression of hsa-let-7b-5p, hsa-let-7f-5p, and hsa-miR-222-3p and their putative targets HMGA2 and CDKN1B in typical and atypical carcinoid tumors of the lung.Tumour Biol. 2017 Oct;39(10):1010428317728417. doi: 10.1177/1010428317728417.
12	Expression of nicotinic receptors in normal and tumoral pulmonary neuroendocrine cells (PNEC).Pathol Res Pract. 2008;204(12):891-8. doi: 10.1016/j.prp.2008.05.006. Epub 2008 Jul 29.
13	Identification of zymogen and mature forms of human carboxypeptidase H. A processing enzyme for the synthesis of peptide hormones.FEBS Lett. 1988 Oct 10;238(2):338-42. doi: 10.1016/0014-5793(88)80508-8.
14	High miR-100 expression is associated with aggressive features and modulates TORC1 complex activation in lung carcinoids.Oncotarget. 2018 Jun 8;9(44):27535-27546. doi: 10.18632/oncotarget.25541. eCollection 2018 Jun 8.
15	Frizzled-7 dictates three-dimensional organization of colorectal cancer cell carcinoids.Oncogene. 2007 Apr 5;26(16):2340-52. doi: 10.1038/sj.onc.1210026. Epub 2006 Oct 2.
16	Case report: optimal tumor cytoreduction and octreotide with durable disease control in a patient with MEN-1 and Zollinger-Ellison syndrome-over a decade of follow-up.World J Surg Oncol. 2019 Dec 9;17(1):213. doi: 10.1186/s12957-019-1758-6.
17	5-hydroxytryptamine receptors in the human cardiovascular system.Pharmacol Ther. 2006 Sep;111(3):674-706. doi: 10.1016/j.pharmthera.2005.12.004.
18	NSP-encoded reticulons are neuroendocrine markers of a novel category in human lung cancer diagnosis.Cancer Res. 1994 Sep 1;54(17):4769-76.
19	Role of CCK/gastrin receptors in gastrointestinal/metabolic diseases and results of human studies using gastrin/CCK receptor agonists/antagonists in these diseases.Curr Top Med Chem. 2007;7(12):1211-31. doi: 10.2174/156802607780960519.
20	Gene expression in midgut carcinoid tumors: potential targets for immunotherapy.Acta Oncol. 2005;44(1):32-40. doi: 10.1080/02841860510007404.
21	Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors.Cancer. 2005 Jan 15;103(2):229-36. doi: 10.1002/cncr.20750.
22	Array comparative genomic hybridization-based characterization of genetic alterations in pulmonary neuroendocrine tumors.Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13040-5. doi: 10.1073/pnas.1008132107. Epub 2010 Jul 6.
23	Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.Dig Liver Dis. 2017 Jan;49(1):98-102. doi: 10.1016/j.dld.2016.10.007. Epub 2016 Oct 20.
24	11q13 allelic imbalance discriminates pulmonary carcinoids from tumorlets. A microdissection-based genotyping approach useful in clinical practice.Am J Pathol. 1999 Aug;155(2):633-40. doi: 10.1016/S0002-9440(10)65159-0.
25	A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.Endocr Relat Cancer. 2011 Jan 13;18(1):171-80. doi: 10.1677/ERC-10-0248. Print 2011 Feb.
26	Systemic therapy in non-conventional cancers of the larynx.Oral Oncol. 2018 Jul;82:61-68. doi: 10.1016/j.oraloncology.2018.05.005. Epub 2018 May 26.
27	Profiling of ileal carcinoids.Neuroendocrinology. 2013;97(1):7-18. doi: 10.1159/000343232. Epub 2012 Nov 2.
28	Prognostic markers in patients with typical bronchial carcinoid tumors.J Clin Endocrinol Metab. 2000 Sep;85(9):3425-30. doi: 10.1210/jcem.85.9.6785.
29	Utility of molecular genetic signatures in the delineation of gastric neoplasia.Cancer. 2006 Apr 1;106(7):1480-8. doi: 10.1002/cncr.21758.
30	Expression of Insulinoma-Associated Protein 1 (INSM1) and Orthopedia Homeobox (OTP) in Tumors with Neuroendocrine Differentiation at Rare Sites.Endocr Pathol. 2019 Mar;30(1):35-42. doi: 10.1007/s12022-018-9559-y.
31	Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin-remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D.J Pathol. 2017 Mar;241(4):488-500. doi: 10.1002/path.4853. Epub 2016 Dec 29.
32	Amyloid precursor-like protein 1 is differentially upregulated in neuroendocrine tumours of the gastrointestinal tract.Endocr Relat Cancer. 2008 Jun;15(2):569-81. doi: 10.1677/ERC-07-0145. Epub 2008 Apr 22.
33	mASH1 is Highly Specific for Neuroendocrine Carcinomas: An Immunohistochemical Evaluation on Normal and Various Neoplastic Tissues.Arch Pathol Lab Med. 2017 Feb;141(2):288-292. doi: 10.5858/arpa.2015-0489-OA. Epub 2016 Sep 15.
34	Expression of cocaine- and amphetamine-regulated transcript is associated with worse survival in small bowel carcinoid tumors.Clin Cancer Res. 2012 Jul 1;18(13):3668-76. doi: 10.1158/1078-0432.CCR-11-2513. Epub 2012 May 2.
35	Identification of genes associated with the corticotroph phenotype in bronchial carcinoid tumors.J Clin Endocrinol Metab. 2002 Nov;87(11):5015-22. doi: 10.1210/jc.2002-020598.
36	Distinct claudin expression profile in histologic subtypes of lung cancer.Lung Cancer. 2007 Aug;57(2):159-67. doi: 10.1016/j.lungcan.2007.02.018. Epub 2007 Apr 6.
37	Hoxc6 is overexpressed in gastrointestinal carcinoids and interacts with JunD to regulate tumor growth.Gastroenterology. 2008 Sep;135(3):907-16, 916.e1-2. doi: 10.1053/j.gastro.2008.06.034. Epub 2008 Jul 23.
38	Immunohistochemical Characterization of the Origins of Metastatic Well-differentiated Neuroendocrine Tumors to the Liver.Am J Surg Pathol. 2017 Jul;41(7):915-922. doi: 10.1097/PAS.0000000000000876.
39	Pulmonary large cell neuroendocrine carcinoma with adenocarcinoma-like features: napsin A expression and genomic alterations.Mod Pathol. 2018 Jan;31(1):111-121. doi: 10.1038/modpathol.2017.110. Epub 2017 Sep 8.
40	Bombesin receptor subtypes in human cancers: detection with the universal radioligand (125)I-[D-TYR(6), beta-ALA(11), PHE(13), NLE(14)] bombesin(6-14).Clin Cancer Res. 2002 Apr;8(4):1139-46.
41	Olfactory receptor 51E1 as a novel target for diagnosis in somatostatin receptor-negative lung carcinoids.J Mol Endocrinol. 2013 Nov 7;51(3):277-86. doi: 10.1530/JME-13-0144. Print 2013 Dec.
42	p21-activated kinase 3 is overexpressed in thymic neuroendocrine tumors (carcinoids) with ectopic ACTH syndrome and participates in cell migration.Endocrine. 2010 Aug;38(1):38-47. doi: 10.1007/s12020-010-9324-6. Epub 2010 May 4.
43	Differential screening of a human chromosome 3 library identifies hepatocyte growth factor-like/macrophage-stimulating protein and its receptor in injured lung. Possible implications for neuroendocrine cell survival.J Clin Invest. 1997 Jun 15;99(12):2979-91. doi: 10.1172/JCI119493.
44	GCDFP-15 positive and TTF-1 negative primary lung neoplasms: a tissue microarray study of 381 primary lung tumors.Appl Immunohistochem Mol Morphol. 2009 Dec;17(6):505-11. doi: 10.1097/PAI.0b013e3181a8e809.
45	Expression of developing neural transcription factors in lung carcinoid tumors.Pathol Int. 2014 Aug;64(8):365-74. doi: 10.1111/pin.12183.
46	Overexpression of wild-type PKD2 leads to increased proliferation and invasion of BON endocrine cells.Biochem Biophys Res Commun. 2006 Sep 29;348(3):945-9. doi: 10.1016/j.bbrc.2006.07.142. Epub 2006 Jul 31.
47	Transmembrane protein tyrosine phosphatase IA-2 (ICA512) is expressed in human midgut carcinoids but is not detectable in normal enterochromaffin cells.J Endocrinol. 2000 Mar;164(3):315-22. doi: 10.1677/joe.0.1640315.
48	Analysis of multiple molecular changes in human endocrine tumours.Surg Oncol. 1994 Jun;3(3):153-9. doi: 10.1016/0960-7404(94)90044-2.
49	Immunohistochemical evidence for an impairment of autophagy in tumorigenesis of gastric carcinoids and adenocarcinomas in rodent models and patients.Histol Histopathol. 2013 Apr;28(4):531-42. doi: 10.14670/HH-28.531. Epub 2013 Feb 7.
50	Thyroid transcription factor-1 in primary CNS tumors.Appl Immunohistochem Mol Morphol. 2011 Oct;19(5):437-43. doi: 10.1097/PAI.0b013e31820e6baf.
51	Secretin receptor promotes the proliferation of endocrine tumor cells via the PI3K/AKT pathway.Mol Endocrinol. 2012 Aug;26(8):1394-405. doi: 10.1210/me.2012-1055. Epub 2012 Jun 12.