Small intestine neuroendocrine tumor

A small intestine neuroendocrine tumor is a carcinoid in the distal small intestine or the proximal large intestine. It is a relatively rare cancer and is diagnosed in approximately 1/100000 people every year. In recent decades the incidence has increased.[1] The prognosis is comparatively good with a median survival of more than 8 years.[2] The disease was named by Siegfried Oberndorfer, a German pathologist, in 1907.[3]

Small intestine neuroendocrine tumor
SpecialtyGastroenterology/oncology

Signs and symptoms

A large fraction of cases are diagnosed after routine surgery for bowel obstruction.[4] Others may be diagnosed incidentally, or after investigation for carcinoid syndrome. The tumor typically produces serotonin, Tachykinin peptides and other substances, which cause flushing, tachycardia, diarrhea and in some cases fibrosis of the heart valves.

There are often several small and highly fibrotic tumors present in the intestine. The tumors often spread to the mesenteries and the liver.

Cause

Familial clustering of the disease, with several relatives being diagnosed may occur.[5] Relatives of patients have an increased risk of developing the disease.[6]

Genetics

The tumors often harbour loss of chromosome 18q.[7] Mutations in CDKN1B are present in approximately 8% of cases.[8][9]

Treatment

The treatment traditionally consists of a combination of medical and surgical treatment. Somatostatin analogues and Interferon decrease the secretion of hormones and the resulting symptoms. Radionuclide therapy with 177-Lutetium-DOTA-Octreotate increases progression-free survival.[10]

Traditionally, the primary tumor has been surgically removed even in the case of metastatic disease, although this was in 2017 shown not to improve survival in asymptomatic patients.[11]

References
  1. Yao, James C.; Hassan, Manal; Phan, Alexandria; Dagohoy, Cecile; Leary, Colleen; Mares, Jeannette E.; Abdalla, Eddie K.; Fleming, Jason B.; Vauthey, Jean-Nicolas (2008-06-20). "One hundred years after "carcinoid": epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States". Journal of Clinical Oncology. 26 (18): 3063–3072. doi:10.1200/JCO.2007.15.4377. ISSN 1527-7755. PMID 18565894.
  2. Norlén, Olov; Stålberg, Peter; Öberg, Kjell; Eriksson, John; Hedberg, Jakob; Hessman, Ola; Janson, Eva Tiensuu; Hellman, Per; Åkerström, Göran (June 2012). "Long-term results of surgery for small intestinal neuroendocrine tumors at a tertiary referral center". World Journal of Surgery. 36 (6): 1419–1431. doi:10.1007/s00268-011-1296-z. ISSN 1432-2323. PMID 21984144. S2CID 2446655.
  3. Modlin, Irvin M.; Shapiro, Michael D.; Kidd, Mark; Eick, Geeta (February 2007). "Siegfried oberndorfer and the evolution of carcinoid disease". Archives of Surgery. 142 (2): 187–197. doi:10.1001/archsurg.142.2.187. ISSN 0004-0010. PMID 17309971.
  4. Eriksson, John; Garmo, Hans; Hellman, Per; Ihre-Lundgren, Catharina (May 2017). "The Influence of Preoperative Symptoms on the Death of Patients with Small Intestinal Neuroendocrine Tumors". Annals of Surgical Oncology. 24 (5): 1214–1220. doi:10.1245/s10434-016-5703-4. ISSN 1534-4681. PMC 5374169. PMID 27904972.
  5. Cunningham, Janet L.; Díaz de Ståhl, Teresita; Sjöblom, Tobias; Westin, Gunnar; Dumanski, Jan P.; Janson, Eva T. (February 2011). "Common pathogenetic mechanism involving human chromosome 18 in familial and sporadic ileal carcinoid tumors". Genes, Chromosomes & Cancer. 50 (2): 82–94. doi:10.1002/gcc.20834. ISSN 1098-2264. PMID 21104784. S2CID 25948449.
  6. Neklason, Deborah W.; VanDerslice, James; Curtin, Karen; Cannon-Albright, Lisa A. (February 2016). "Evidence for a heritable contribution to neuroendocrine tumors of the small intestine". Endocrine-Related Cancer. 23 (2): 93–100. doi:10.1530/ERC-15-0442. ISSN 1479-6821. PMC 4684974. PMID 26604321.
  7. Kytölä, S.; Höög, A.; Nord, B.; Cedermark, B.; Frisk, T.; Larsson, C.; Kjellman, M. (May 2001). "Comparative genomic hybridization identifies loss of 18q22-qter as an early and specific event in tumorigenesis of midgut carcinoids". The American Journal of Pathology. 158 (5): 1803–1808. doi:10.1016/S0002-9440(10)64136-3. ISSN 0002-9440. PMC 1891959. PMID 11337378.
  8. Francis, Joshua M.; Kiezun, Adam; Ramos, Alex H.; Serra, Stefano; Pedamallu, Chandra Sekhar; Qian, Zhi Rong; Banck, Michaela S.; Kanwar, Rahul; Kulkarni, Amit A. (December 2013). "Somatic mutation of CDKN1B in small intestine neuroendocrine tumors". Nature Genetics. 45 (12): 1483–1486. doi:10.1038/ng.2821. ISSN 1546-1718. PMC 4239432. PMID 24185511.
  9. Crona, Joakim; Gustavsson, Tobias; Norlén, Olov; Edfeldt, Katarina; Åkerström, Tobias; Westin, Gunnar; Hellman, Per; Björklund, Peyman; Stålberg, Peter (December 2015). "Somatic Mutations and Genetic Heterogeneity at the CDKN1B Locus in Small Intestinal Neuroendocrine Tumors". Annals of Surgical Oncology. 22 Suppl 3: S1428–1435. doi:10.1245/s10434-014-4351-9. ISSN 1534-4681. PMID 25586243. S2CID 23470409.
  10. Strosberg, Jonathan; El-Haddad, Ghassan; Wolin, Edward; Hendifar, Andrew; Yao, James; Chasen, Beth; Mittra, Erik; Kunz, Pamela L.; Kulke, Matthew H. (12 January 2017). "Phase 3 Trial of177Lu-Dotatate for Midgut Neuroendocrine Tumors". The New England Journal of Medicine. 376 (2): 125–135. doi:10.1056/NEJMoa1607427. ISSN 1533-4406. PMC 5895095. PMID 28076709.
  11. Daskalakis, Kosmas; Karakatsanis, Andreas; Hessman, Ola; Stuart, Heather C.; Welin, Staffan; Tiensuu Janson, Eva; Öberg, Kjell; Hellman, Per; Norlén, Olov (2018-02-01). "Association of a Prophylactic Surgical Approach to Stage IV Small Intestinal Neuroendocrine Tumors With Survival". JAMA Oncology. 4 (2): 183–189. doi:10.1001/jamaoncol.2017.3326. ISSN 2374-2445. PMC 5838704. PMID 29049611.
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