Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1
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...
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doaj-36d62257304945cf99e5fa43149aba2f2020-11-25T02:38:04ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-04-011110.3389/fgene.2020.00395517836Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1Cleandra Gregório0Cleandra Gregório1Clévia Rosset2Laura da Silva Alves3Cristina Brinkmann Oliveira Netto4Simone Marcia dos Santos Machado5Vivian Pierri Bersch6Vivian Pierri Bersch7Alessandro Bersch Osvaldt8Alessandro Bersch Osvaldt9Alessandro Bersch Osvaldt10Patricia Ashton-Prolla11Patricia Ashton-Prolla12Patricia Ashton-Prolla13Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilPrograma de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilLaboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilServiço de Patologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilServiço de Cirurgia do Aparelho Digestivo, Grupo de Vias Biliares e Pâncreas, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilGrupo do Pâncreas, Serviço de Cirurgia do Aparelho Digestivo, Hospital Moinhos de Vento, Porto Alegre, BrazilServiço de Cirurgia do Aparelho Digestivo, Grupo de Vias Biliares e Pâncreas, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilPrograma de Pós-graduação em Medicina: Ciências Cirúrgicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilLaboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilPrograma de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, BrazilServiço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, BrazilIntroductionIn 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.https://www.frontiersin.org/article/10.3389/fgene.2020.00395/fullsynchronous neoplasmsGISTperiampullary tumorsneurofibromatosis type 1pancreas divisumCFTR pathogenic variant |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Cleandra Gregório Cleandra Gregório Clévia Rosset Laura da Silva Alves Cristina Brinkmann Oliveira Netto Simone Marcia dos Santos Machado Vivian Pierri Bersch Vivian Pierri Bersch Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Patricia Ashton-Prolla Patricia Ashton-Prolla Patricia Ashton-Prolla |
spellingShingle |
Cleandra Gregório Cleandra Gregório Clévia Rosset Laura da Silva Alves Cristina Brinkmann Oliveira Netto Simone Marcia dos Santos Machado Vivian Pierri Bersch Vivian Pierri Bersch Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Patricia Ashton-Prolla Patricia Ashton-Prolla Patricia Ashton-Prolla Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 Frontiers in Genetics synchronous neoplasms GIST periampullary tumors neurofibromatosis type 1 pancreas divisum CFTR pathogenic variant |
author_facet |
Cleandra Gregório Cleandra Gregório Clévia Rosset Laura da Silva Alves Cristina Brinkmann Oliveira Netto Simone Marcia dos Santos Machado Vivian Pierri Bersch Vivian Pierri Bersch Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Alessandro Bersch Osvaldt Patricia Ashton-Prolla Patricia Ashton-Prolla Patricia Ashton-Prolla |
author_sort |
Cleandra Gregório |
title |
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 |
title_short |
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 |
title_full |
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 |
title_fullStr |
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 |
title_full_unstemmed |
Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1 |
title_sort |
synchronous periampullary tumors in a patient with pancreas divisum and neurofibromatosis type 1 |
publisher |
Frontiers Media S.A. |
series |
Frontiers in Genetics |
issn |
1664-8021 |
publishDate |
2020-04-01 |
description |
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. |
topic |
synchronous neoplasms GIST periampullary tumors neurofibromatosis type 1 pancreas divisum CFTR pathogenic variant |
url |
https://www.frontiersin.org/article/10.3389/fgene.2020.00395/full |
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