Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in the NF1 gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if this is the case with goblet cell carcinoids. We describe a patient with both neurofibromatosis type 1 and goblet cell carcinoid, that according to literature would occur in 0.00017 per million per year. This may suggest a previously unknown association between neurofibromatosis type 1 and goblet cell carcinoids.
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| http://dx.doi.org/10.1155/2012/185730 | DOI Listing |
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Article Synopsis
- Pseudomyxoma peritonei (PMP) is a rare condition linked to mucin-producing tumors, usually starting in the appendix, leading to mucin buildup in the abdomen.
- Researchers conducted RNA-seq analysis on ten PMP cases and their healthy tissue to reveal 32 differently expressed genes, indicating that PMP tumors arise from goblet cells.
- The study found significant associations between PMP tumors and important biological processes like epithelial-mesenchymal transition, angiogenesis, and inflammation, with further analysis highlighting distinct gene expressions in different PMP types, suggesting more aggressive traits in peritoneal mucinous adenocarcinomas (PMCA).
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