Appendiceal carcinoma associated with microsatellite instability

Morales-Miranda, Angélica; Rosado, Ismael Domínguez; Núñez, Carlos; Montero, Fredy Chablé

doi:10.3892/mco.2018.1596

Cited by 4 publications

(8 citation statements)

References 34 publications

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“…Co-mutations in other genes, such as the tumor suppressor gene SMAD4, are common in high-grade mucinous appendiceal adenocarcinomas, probably favoring the progression of indolent low-grade neoplasms into aggressive high-grade adenocarcinoma [53]. Some mucinous adenocarcinomas of the appendix can exhibit microsatellite instability [74]. In some instances, the appendix attaches itself to the surrounding organs or often fistulize internally inside the body, into the bladder, ileum, umbilicus, aorta, sig- moid colon, cecum, etc.…”

Section: N1bmentioning

confidence: 99%

“…Because of thei advanced stage (grade 3), they have a poor prognosis. The association with genetic causes is not well known, with only a few cases reported in which mutations occurred in the Some mucinous adenocarcinomas of the appendix can exhibit microsatellite instability [74]. In some instances, the appendix attaches itself to the surrounding organs or often fistulize internally inside the body, into the bladder, ileum, umbilicus, aorta, sigmoid colon, cecum, etc.…”

Section: M1bmentioning

confidence: 99%

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The Vermiform Appendix and Its Pathologies

Constantin,

Petrescu,

Mătanie

et al. 2023

Cancers

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The vermiform appendix is a muscular cylindrical structure originating near the junction of the cecum and ileum, averaging 9 cm (5–35 cm) in size. As the most mobile viscera, it can adopt several positions, the most common being the retrocecal position. Perceived as an atavistic organ lacking physiological relevance, the vermiform appendix appears to be involved in immune function, serving in the maturation of B lymphocytes and the production of immunoglobulin A, in endocrine function, excreting amines and hormones in the 2–3 mL of mucus secreted daily, and in digestive function, by storing beneficial bacteria from where they can recolonize the colon. With a lumen of about 6 mm, the vermiform appendix has a reduced storage capacity, so any blockage of the appendix with fecoliths (fecaliths), seeds derailed from the colon, or enlarged lymph nodes prevents drainage and intraluminal accumulation of secreted mucus. Unable to relax, the appendix wall severely limits its intraluminal volume, so mucus accumulation leads to inflammation of the appendix, known generically as appendicitis. In addition, the vermiform appendix may be the site of the development of neoplastic processes, which may or may not involve mucus production, some of which can significantly affect the standard of living and ultimately lead to death. In general, mucinous tumors may have a better prognosis than non-mucinous tumors. This review takes a comprehensive path, starting by describing the anatomy and embryology of the vermiform appendix and further detailing its inflammatory pathologies, pathologies related to congenital anomalies, and appendix tumors, thus creating an up-to-date framework for better understanding, diagnosis, and treatment of these health problems.

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Section: N1bmentioning

confidence: 99%

Section: M1bmentioning

confidence: 99%

The Vermiform Appendix and Its Pathologies

Constantin,

Petrescu,

Mătanie

et al. 2023

Cancers

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“…Microsatellite instability can manifest in both familial and sporadic colorectal cancer (CRC). Familial cases, comprising approximately 2-3% of all CRC cases [234], are associated with inherited mutations in DNA mismatch repair genes, namely, MLH1, MSH2, MSH6, or PMS2. In rare instances, a deletion in the last exon of the EPCAM gene can cause MSH2 methylation, resulting in heritable MSI.…”

Section: Microsatellite Instability In Appendix Tumorsmentioning

confidence: 99%

Landscape of Genetic Mutations in Appendiceal Cancers

Constantin,

Mătanie,

Petrescu

et al. 2023

Cancers

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In appendiceal cancers, the most frequently mutated genes are (i) KRAS, which, when reactivated, restores signal transduction via the RAS–RAF–MEK–ERK signaling pathway and stimulates cell proliferation in the early stages of tumor transformation, and then angiogenesis; (ii) TP53, whose inactivation leads to the inhibition of programmed cell death; (iii) GNAS, which, when reactivated, links the cAMP pathway to the RAS–RAF–MEK–ERK signaling pathway, stimulating cell proliferation and angiogenesis; (iv) SMAD4, exhibiting typical tumor-suppressive activity, blocking the transmission of oncogenic TGFB signals via the SMAD2/SMAD3 heterodimer; and (v) BRAF, which is part of the RAS–RAF–MEK–ERK signaling pathway. Diverse mutations are reported in other genes, which are part of secondary or less critical signaling pathways for tumor progression, but which amplify the phenotypic diversity of appendiceal cancers. In this review, we will present the main genetic mutations involved in appendix tumors and their roles in cell proliferation and survival, and in tumor invasiveness, angiogenesis, and acquired resistance to anti-growth signals.

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“…9 The prevalence of the MSI-H/dMMR phenotype in appendiceal carcinomas is estimated to be 2.8%. 10 The 5-year survival for appendiceal carcinoma ranges from 20% to 60%. 10 Current standard of care for the treatment of small bowel adenocarcinoma is chemotherapy with fluorouracil-leucovorin-oxaliplatin (known as FOLFOX) or capecitabine-oxaliplatin (known as CAPOX).…”

Section: Context and Policy Issuesmentioning

confidence: 99%

“…10 The 5-year survival for appendiceal carcinoma ranges from 20% to 60%. 10 Current standard of care for the treatment of small bowel adenocarcinoma is chemotherapy with fluorouracil-leucovorin-oxaliplatin (known as FOLFOX) or capecitabine-oxaliplatin (known as CAPOX). 5 Anti-epidermal growth factor receptor therapy (e.g., cetuximab, panitumumab) and anti-vascular endothelial growth factor receptor therapy (e.g., bevacizumab) have been studied in small bowel adenocarcinoma.…”

Section: Context and Policy Issuesmentioning

confidence: 99%

Pembrolizumab for Microsatellite Instability-High or Mismatch Repair Deficient Small Bowel Adenocarcinoma or Appendiceal Adenocarcinoma

Farrell¹,

Horton²

2021

cjht

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Some adult patients with microsatellite instability-high (MSI-H)/mismatch repair deficient (dMMR) small bowel adenocarcinoma might benefit from pembrolizumab in controlling the disease (i.e., some patients achieved a partial or complete response after treatment). These findings are based on 2 single-arm studies (i.e., no comparator) with fewer than 20 patients in each study, which limits the certainty of the findings. The longer-term benefit of pembrolizumab is unclear, as some outcomes (e.g., progression-free survival, overall survival) were not reached at the time of data analysis. The safety of pembrolizumab in patients with MSI-H/dMMR small bowel adenocarcinoma is unknown (no evidence was found for this population). No evidence was identified regarding the clinical effectiveness of pembrolizumab monotherapy for patients with MSI-H/dMMR appendiceal adenocarcinoma. No evidence was identified regarding the cost-effectiveness of pembrolizumab monotherapy for patients with MSI-H/dMMR small bowel adenocarcinoma or appendiceal adenocarcinoma. No evidence-based guidelines were identified regarding pembrolizumab monotherapy for patients with MSI-H/dMMR appendiceal adenocarcinoma. One guideline was identified that recommends pembrolizumab as an option for initial or subsequent therapy in patients with advanced or metastatic MSI-H/dMMR small bowel adenocarcinoma.

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Appendiceal carcinoma associated with microsatellite instability

Cited by 4 publications

References 34 publications

The Vermiform Appendix and Its Pathologies

The Vermiform Appendix and Its Pathologies

Landscape of Genetic Mutations in Appendiceal Cancers

Pembrolizumab for Microsatellite Instability-High or Mismatch Repair Deficient Small Bowel Adenocarcinoma or Appendiceal Adenocarcinoma

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