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Pedigree of family. The black symbols indicate neurofibromatosis type 1. Numbers on right-top gives the current age. The blue arrow means the proband.
Source publication
A synchronous case of small bowel adenocarcinoma(SAB) is reported, accompanied with gastrointestinal stromal tumor(GIST),and gangliocytomain in an elderly woman with neurofibromatosis type 1 (NF-1). A 67-year-old female was hospitalized with the chief complaint of abdominal pain, the computed tomography scan indicated a large bowel mass. Multiple t...
Contexts in source publication
Context 1
... admission, a physical examination was performed, with neurofibroma, cafeáucafeáu lait macules, skin fold freckling detected all over the patient's body (Figure 1), which were diagnosed as gastrointestinal neoplasms and neurofibromatosis type 1 (11). A detailed family history survey revealed that the patient's sons and granddaughter also had neurofibromatosis (Figure 2). Improvement of relevant tests: blood routine, urine, feces, coagulation function, tumor markers were normal, fecal latent blood test was positive. ...
Context 2
... the operation, a mass with the size of about 5 cm × 7 cm was found within 10 cm of the ileocecal area, with significant enlargement and edema of the proximal small bowel. A mass approximately 1.5 cm in diameter can be seen on the lateral wall of the small intestine, approximately 120 cm from the Treitz ligament (Supplementary Figure 2). The ileocecal tumor was resected, accompanied with its corresponding mesentery, and the mass on the lateral wall of the small intestine. ...
Similar publications
Background:
Rectal gastrointestinal stromal tumours (GISTs) have many treatment options, but uncertainty remains regarding the best treatment regimen for this rare pathology. The aim of this review is to assess the optimal management approach including timing of chemotherapy.
Methods:
PubMed, EMBASE, and Cochrane databases were searched for rele...
Citations
... A handful of reports of synchronous gastrointestinal neoplasms in NF1 exist in published medical literature. Zhang et al. reported a case of coexistent small intestinal adenocarcinoma and GIST [12]. Park et al. reported three cases with synchronous ampullary NET and GIST, treated with pancreaticoduodenctomy [13]. ...
Neurofibromatosis type 1, resulting from dominantly inherited mutations affecting neurofibromin, is among the most common human genetic syndromes associated with many neurocutaneous manifestations. Neoplasms, neurogenic and non-neurogenic, are frequent, as are the gastrointestinal manifestations. Gastrointestinal tumors and vasculopathy are well-reported in individuals with neurofibromatosis type 1. A combination of somatostatioma and gastrointestinal stromal tumor is considered pathognomonic. We here report a case of neurofibromatosis type 1 with a triad of distinct neoplasms: gastrointestinal stromal tumor, neuroendoscrine tumor, and intra-ampullary papillary-tubular neoplasm. The trilogy of these neoplasms is unique and, to our knowledge, has never been reported in the literature. The report also emphasizes the role of advanced immunochemical staining in day-to-day practice, which has improved diagnostic accuracy and yield.
... According to a Finnish study, at the age of 50, NF1 has a cumulative cancer risk of 38% and a lifetime cancer risk of 59.6%. However, equivalent values for the general population are 3.9% and 30.8%, respectively [12]. Because of this, a proper diagnosis is crucial at the prefrontal stage of a tumor and offers useful prediction guidance for tumor management [4]. ...
Introduction
We present a case of a male patient with neurofibromatosis type 1 diagnosed with pancreatic divisum and several gastrointestinal tumors. A 55-year-old man was admitted to the hospital with recurrent chronic pancreatitis, indicating a large mass in the ampulla. In addition, genetic testing revealed two unique germline mutations in the neurofibromin (NF1) gene, and their potential interaction in promoting cancer was further investigated.
Conclusion
The first similar case was reported in 2020. The current case was distinct from other cases since an additional two NF1 mutations were found in the patient. In conjunction with prior case reports, our findings imply that genetic testing in patients diagnosed with neurofibromatosis type 1 could be helpful in the development of effective treatments.
