1.
Am J Med
; 136(8): e157-e158, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37068574
Assuntos
Carcinoma Adenoescamoso , Diabetes Mellitus , Hipercalcemia , Neoplasias Pancreáticas , Síndromes Paraneoplásicas , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/etiologia , Carcinoma Adenoescamoso/complicações , Carcinoma Adenoescamoso/diagnóstico , Carcinoma Adenoescamoso/patologia , Proteína Relacionada ao Hormônio Paratireóideo , Pâncreas/patologia , Síndromes Paraneoplásicas/diagnóstico , Síndromes Paraneoplásicas/etiologia , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patologia
2.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30515673
RESUMO
In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Life-changing prophylactic total gastrectomy should therefore also be considered in CTNNA1 mutation carriers.