Abstract
IntroductionIn this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case reportA 62-year-old female NF1 patient presented with weakness, choluria, nausea, and diffuse abdominal pain to an emergency room service. Magnetic resonance imaging revealed an abdominal mass involving the periampullary region and pancreas divisum. After surgical resection, three synchronous neoplasms were detected including two ampullary tumors (adenocarcinoma of the major ampulla and a neuroendocrine tumor of the minor ampulla) and a gastrointestinal stromal tumor (GIST). Germline multigene panel testing (MGPT) identified two pathogenic heterozygous germline variants: NF1 c.838del and CFTR c.1210-34TG[12]T[5].ConclusionThis is the first report of a Neurofibromatosis type 1 patient with pancreas divisum and multiple periampullary tumors harboring pathogenic germline variants in NF1 and CFTR genes. The identification of two germline variants and a developmental anomaly in this patient may explain the unusual and more severe findings and underscores the importance of comprehensive molecular analyses in patients with complex phenotypes.
Highlights
In this study, we describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case report: A 62-year-old female NF1 patient presented with weakness, choluria, nausea, and diffuse abdominal pain to an emergency room service
A few NF1 patients with co-occurrence of gastrointestinal stromal tumor (GIST) and neuroendocrine tumors (NET) have been described in the literature (Tewari et al, 2014; Thavaraputta et al, 2019)
We describe and perform genetic analysis in a neurofibromatosis type 1 patient with pancreas divisum and multiple periampullary tumors
Summary
We describe for the first time a Neurofibromatosis type 1 patient with pancreas divisum, multiple periampullary tumors and germline pathogenic variants in NF1 and CFTR genes.Case report: A 62-year-old female NF1 patient presented with weakness, choluria, nausea, and diffuse abdominal pain to an emergency room service. Ampullary neoplasms are rare, comprising 7% of all periampullary malignancies (Adsay et al, 2012), and association of theses tumors with pancreas divisum is considered an episodic event (Singh et al, 2003; Outtas et al, 2004; Kim et al, 2010). Their occurrence has been reported in families with hereditary cancer syndromes, such as Familial Adenomatous Polyposis (Pérez-Cuadrado-Robles et al, 2019) and Neurofibromatosis type 1 (NF1) (Tewari et al, 2014). A few NF1 patients with co-occurrence of GIST and NETs have been described in the literature (Tewari et al, 2014; Thavaraputta et al, 2019)
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