Small intestine neuroendocrine tumor

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Small intestine neuroendocrine tumor
Specialty Gastroenterology/oncology

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]

Contents

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.[ citation needed ]

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

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] In terms of transcritpomic analysis, small intestinal neurodendocrine tumours present 4 gene expression sub-clusters named Vesicular (Ves), Immune, Epithelial (Epi) and Mesenchymal (Mes). This last signature correlates with a very poor prognosis for the patient. The infitration of cancer associated fibroblasts is particularly abundant. [10]

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. [11]

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. [12]

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. ↑ Patte; Pommier; Ferrari; Fei-Lei Chung; Ouzounova; Moullé; Richaud; Khoueiry; Hervieu; Breusa; Allio; Rama; Gérard; Hervieu; Poncet; Fenouil; Cahais; Sertier; Boland; Bacq-Daian; Ducarouge; Marie; Deleuze; Viari; Scoazec JY; Roche; Mehlen; Walter; Gibert (2025). "Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors". Nature Communications. 16 (1): 2197. Bibcode:2025NatCo..16.2197P. doi:10.1038/s41467-025-57305-8. PMC   11880452 . PMID   40038310.
  11. ↑ 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.
  12. ↑ 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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