Endoscopic screening for identification of signet ring cell gastric cancer foci in carriers of germline pathogenic variants in CDH1.

Autor: Mejia Perez LK; Department of Gastroenterology, Hepatology and Nutrition Digestive Disease and Surgical Institute, Cleveland Clinic, Desk A30, 9500 Euclid Avenue, Cleveland, OH, 44195, USA., O'Malley M; Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA., Chatterjee A; Department of Internal Medicine, Cleveland Clinic, Cleveland, OH, USA., Lyu R; Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA., Yang Q; Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA., Cruise MW; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA.; Department of Pathology and Lab Medicine, Cleveland Clinic, Cleveland, OH, USA., LaGuardia L; Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA., Liska D; Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA.; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA., Macaron C; Department of Gastroenterology, Hepatology and Nutrition Digestive Disease and Surgical Institute, Cleveland Clinic, Desk A30, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA., Walsh RM; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA.; Department of General Surgery, Cleveland Clinic, Cleveland, OH, USA., Burke CA; Department of Gastroenterology, Hepatology and Nutrition Digestive Disease and Surgical Institute, Cleveland Clinic, Desk A30, 9500 Euclid Avenue, Cleveland, OH, 44195, USA. burkec1@ccf.org.; Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA. burkec1@ccf.org.; Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA. burkec1@ccf.org.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2024 Nov; Vol. 23 (4), pp. 617-626. Date of Electronic Publication: 2024 Sep 11.
DOI: 10.1007/s10689-024-00421-z
Abstrakt: To determine the preoperative detection of signet ring cancer cells (SRC) on upper endoscopy (EGD) in patients with CDH1 pathogenic variant (PV) undergoing gastrectomy. To evaluate the development of advanced diffuse gastric cancer (DGC) in patients choosing surveillance. Guidelines recommend prophylactic total gastrectomy (pTG) in CDH1 PV carriers with family history of DGC between 18 and 40 years. Annual EGD with biopsies according to established protocols is recommended in carriers with no SRC and no family history of DGC, with consideration of pTG. Retrospective analysis of asymptomatic patients with CDH1 PVs with ≥ 1 surveillance EGD. Outcomes included pre-operative EGD detection of SRC, surgical stage, and progression to advanced DGC in those electing surveillance with EGD. 48 patients with CDH1 PVs who had ≥ 1 EGD were included. 24/ 48 (50%) underwent gastrectomy, including pTG in 7 patients. SRCC were detected on gastrectomy specimen in 21/24 (87.5%). SRCs were identified by EGD in 17/21 patients who had SRCC on gastrectomy specimens (sensitivity 81%, 17/21). All cancers were stage pT1a. The remaining 17 patients (50% with a family history of gastric cancer) continue in annual EGD surveillance with a median follow-up of 34.6 months. No SRCC or advanced DGC have been diagnosed. No CDH1 PV carriers without SRCC on random biopsies followed in an endoscopic program developed advanced DGC over a median follow up of 3 years. In the short term, EGD surveillance might be a safe alternative to immediate pTG in experienced hands in referral centers.
(© 2024. The Author(s).)
Databáze: MEDLINE
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