Details of Disease

General Information of Disease (ID: DISDMPU0)

• Disease Name: Pancreatic neuroendocrine tumor
• Synonyms: neuroendocrine tumour of pancreas; pancreatic endocrine tumor; pancreatic endocrine tumour; PANET; neuroendocrine tumor of pancreas; pancreatic neuroendocrine tumor; islet cell tumours of the pancreas; well-differentiated pancreatic neuroendocrine neoplasm; islet cell tumour; islet cell tumors - pancreas; well differentiated pancreatic endocrine tumour; islet cell tumours - pancreas; well differentiated pancreatic endocrine tumor; well-differentiated NEN of pancreas; well differentiated pancreatic endocrine neoplasm; well-differentiated pancreatic NEN; islet cell tumors of the pancreas; islet cell tumor; pancreatic NET; well-differentiated neuroendocrine neoplasm of pancreas
• Definition: Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma).
• Disease Hierarchy:
  DISDR98B: Digestive system neuroendocrine tumor, grade 1/2
  DIS9IAQV: Pancreatic neuroendocrine neoplasm
  DISDMPU0: Pancreatic neuroendocrine tumor
• Disease Identifiers:
  MONDO ID: MONDO_0019954
  UMLS CUI: C1337011
  MedGen ID: 277875
  Orphanet ID: 97253

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 12 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SST	TTWF7UG	Limited	Biomarker	[1]
SSTR2	TTZ6T9E	Limited	Altered Expression	[2]
ELK3	TT5OJMV	Strong	Genetic Variation	[3]
EPHB1	TT8MDAC	Strong	Genetic Variation	[3]
GCGR	TT9O6WS	Strong	Genetic Variation	[4]
GPRC6A	TTI1PRE	Strong	Biomarker	[5]
LPAR3	TTE2YJR	Strong	Biomarker	[5]
MRGPRX1	TTIX6PK	Strong	Biomarker	[5]
OXER1	TT7WBSV	Strong	Biomarker	[5]
PPY	TTIB95A	Strong	Genetic Variation	[6]
SLC6A2	TTAWNKZ	Strong	Genetic Variation	[3]
SSTR5	TT2BC4G	Strong	Genetic Variation	[7]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATRX	OT77RSQW	Strong	Genetic Variation	[8]
CHGB	OT7SAQT2	Strong	Altered Expression	[9]
DAXX	OTX6O7PL	Strong	Biomarker	[10]
DLGAP1	OTF2PUUI	Strong	Biomarker	[11]
FZD4	OTGLZIE0	Strong	Biomarker	[5]
GCM2	OTSKNPTI	Strong	Biomarker	[12]
GPR151	OT7EACU6	Strong	Biomarker	[5]
INA	OT1D33T4	Strong	Biomarker	[13]
INSM1	OTG8RV8E	Strong	Biomarker	[14]
ISL1	OTVNVKAX	Strong	Biomarker	[15]
LGR6	OTPZ1PWR	Strong	Biomarker	[5]
MRGPRX3	OTRKCCDS	Strong	Biomarker	[5]
MRGPRX4	OTOBHZVA	Strong	Biomarker	[5]
TFE3	OTM99ZWH	Strong	Biomarker	[16]
CHGA	OTXYX5JH	Definitive	Biomarker	[17]
SDHA	OTOJ8QFF	Definitive	Biomarker	[18]

References

• [1] Pre-therapy Somatostatin Receptor-Based Heterogeneity Predicts Overall Survival in Pancreatic Neuroendocrine Tumor Patients Undergoing Peptide Receptor Radionuclide Therapy.Mol Imaging Biol. 2019 Jun;21(3):582-590. doi: 10.1007/s11307-018-1252-5.
• [2] A growth model of neuroendocrine tumor surrogates and the efficacy of a novel somatostatin-receptor-guided antibody-drug conjugate: Perspectives on clinical response?.Surgery. 2020 Jan;167(1):197-203. doi: 10.1016/j.surg.2019.04.073. Epub 2019 Sep 19.
• [3] NETest liquid biopsy is diagnostic of small intestine and pancreatic neuroendocrine tumors and correlates with imaging.Endocr Connect. 2019 Mar 1;8(4):442-53. doi: 10.1530/EC-19-0030. Online ahead of print.
• [4] The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.Mol Genet Metab Rep. 2018 Oct 2;17:46-52. doi: 10.1016/j.ymgmr.2018.09.006. eCollection 2018 Dec.
• [5] Differentiation of small bowel and pancreatic neuroendocrine tumors by gene-expression profiling.Surgery. 2012 Dec;152(6):998-1007. doi: 10.1016/j.surg.2012.08.040.
• [6] Exons of the human pancreatic polypeptide gene define functional domains of the precursor.J Biol Chem. 1985 Oct 25;260(24):13013-7.
• [7] Negative regulation of pancreatic and duodenal homeobox-1 by somatostatin receptor subtype 5.Mol Endocrinol. 2012 Jul;26(7):1225-34. doi: 10.1210/me.2012-1095. Epub 2012 Jun 5.
• [8] Serotonin, ATRX, and DAXX Expression in Pituitary Adenomas: Markers in the Differential Diagnosis of Neuroendocrine Tumors of the Sellar Region.Am J Surg Pathol. 2017 Sep;41(9):1238-1246. doi: 10.1097/PAS.0000000000000908.
• [9] Utility of chromogranin B compared with chromogranin A as a biomarker in Japanese patients with pancreatic neuroendocrine tumors.Jpn J Clin Oncol. 2017 Jun 1;47(6):520-528. doi: 10.1093/jjco/hyx032.
• [10] Tumor suppressor functions of DAXX through histone H3.3/H3K9me3 pathway in pancreatic NETs.Endocr Relat Cancer. 2018 Jun;25(6):619-631. doi: 10.1530/ERC-17-0328. Epub 2018 Mar 29.
• [11] GKAP Acts as a Genetic Modulator of NMDAR Signaling to Govern Invasive Tumor Growth.Cancer Cell. 2018 Apr 9;33(4):736-751.e5. doi: 10.1016/j.ccell.2018.02.011. Epub 2018 Mar 29.
• [12] Recent Topics Around Multiple Endocrine Neoplasia Type 1.J Clin Endocrinol Metab. 2018 Apr 1;103(4):1296-1301. doi: 10.1210/jc.2017-02340.
• [13] -Internexin: a novel biomarker for pancreatic neuroendocrine tumor aggressiveness.J Clin Endocrinol Metab. 2014 May;99(5):E786-95. doi: 10.1210/jc.2013-2874. Epub 2014 Jan 31.
• [14] Insulinoma-associated protein 1 (INSM1) is a useful marker for pancreatic neuroendocrine tumor.Med Mol Morphol. 2018 Mar;51(1):32-40. doi: 10.1007/s00795-017-0167-6. Epub 2017 Aug 28.
• [15] 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.
• [16] TFE3 is a diagnostic marker for solid pseudopapillary neoplasms of the pancreas.Hum Pathol. 2018 Nov;81:166-175. doi: 10.1016/j.humpath.2018.07.005. Epub 2018 Jul 18.
• [17] BIOCHEMICAL RESPONSES IN SYMPTOMATIC AND ASYMPTOMATIC PATIENTS WITH NEUROENDOCRINE TUMORS: POOLED ANALYSIS OF 2 PHASE 3 TRIALS.Endocr Pract. 2018 Aug 7. doi: 10.4158/EP-2018-0296. Online ahead of print.
• [18] Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.J Clin Endocrinol Metab. 2015 Oct;100(10):E1386-93. doi: 10.1210/jc.2015-2689. Epub 2015 Aug 10.