1.
Am J Med
; 136(8): e157-e158, 2023 08.
Article
in English
| MEDLINE
| ID: mdl-37068574
Subject(s)
Carcinoma, Adenosquamous , Diabetes Mellitus , Hypercalcemia , Pancreatic Neoplasms , Paraneoplastic Syndromes , Humans , Hypercalcemia/diagnosis , Hypercalcemia/etiology , Carcinoma, Adenosquamous/complications , Carcinoma, Adenosquamous/diagnosis , Carcinoma, Adenosquamous/pathology , Parathyroid Hormone-Related Protein , Pancreas/pathology , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Pancreatic Neoplasms/complications , Pancreatic Neoplasms/diagnosis , Pancreatic Neoplasms/pathology
2.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Article
in English
| MEDLINE
| ID: mdl-30515673
ABSTRACT
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.