Points to consider regarding prophylactic total gastrectomy in germline CDH1 variant carriers.

CDH1 germline mutation gastric cancer prophylactic total gastrectomy

Journal

Journal of surgical oncology
ISSN: 1096-9098
Titre abrégé: J Surg Oncol
Pays: United States
ID NLM: 0222643

Informations de publication

Date de publication:
22 Feb 2024
Historique:
received: 04 01 2024
accepted: 06 02 2024
medline: 23 2 2024
pubmed: 23 2 2024
entrez: 23 2 2024
Statut: aheadofprint

Résumé

Pathogenic germline CDH1 mutation confers high risk for developing diffuse gastric and lobular breast cancers in asymptomatic carriers. In these individuals, the estimated gastric cancer risk at 80 years of age is up to 70% for males and 56% for females. Due to this high-risk predisposition, prophylactic total gastrectomy is considered a unique life-saving approach in germline CDH1 carriers, as endoscopy often fails to detect early stage diffuse gastric carcinoma. However, surgical indication is controversial in some clinical contexts, with possible contraindications. This review discusses points against and in favor of a more aggressive surgical approach for consideration during the decision-making process.

Identifiants

pubmed: 38389278
doi: 10.1002/jso.27603
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024 The Authors. Journal of Surgical Oncology published by Wiley Periodicals LLC.

Références

Blair VR, McLeod M, Carneiro F, et al. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 2020;21:386.
Corso G, Figueiredo J, La Vecchia C, et al. Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect. J Med Genet. 2018;55:431-441.
Girardi A, Magnoni F, Vicini E, et al. CDH1 germline mutations in families with hereditary lobular breast cancer. Eur J Cancer Prev. 2022;31:274-278.
Hebbard PC, Macmillan A, Huntsman D, et al. Prophylactic total gastrectomy (PTG) for hereditary diffuse gastric cancer (HDGC): the Newfoundland experience with 23 patients. Ann Surg Oncol. 2009;16:1890-1895.
Huntsman DG, Carneiro F, Lewis FR, et al. Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. N Engl J Med. 2001;344:1904-1909.
Lowstuter K, Espenschied CR, Sturgeon D, et al. Unexpected CDH1 mutations identified on multigene panels pose clinical management challenges. JCO Precision Oncol. 2017;1:1-12.
Roberts ME, Ranola JMO, Marshall ML, et al. Comparison of CDH1 penetrance estimates in clinically ascertained families vs families ascertained for multiple gastric cancers. JAMA Oncol. 2019;5:1325-1331.
Davis JL, Strong VE. Controversies and strengths in prophylactic total gastrectomy for germline CDH1 pathogenic variant carriers. Eur J Cancer Prev. 2023;32:308-309.
Hansford S, Kaurah P, Li-Chang H, et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol. 2015;1:23-32.
Xicola RM, Li S, Rodriguez N, et al. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. J Med Genet. 2019;56:838-843.
Katona BW, Clark DF, Domchek SM. CDH1 on multigene panel testing: look before you leap. JNCI: J National Cancer Inst. 2020;112:330-334.
Jones EG. Familial gastric cancer. N Z Med J. 1964;63:287-296.
Guilford P, Hopkins J, Harraway J, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392:402-405.
Campbell I, Scott N, Seneviratne S, et al. Breast cancer characteristics and survival differences between Maori, Pacific and other New Zealand women included in the Quality Audit program of Breast Surgeons of Australia and New Zealand. Asian Pacific J Cancer Prevention. 2015;16:2465-2472.
Hakkaart C, Ellison-Loschmann L, Day R, et al. Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. Fam Cancer. 2019;18:83-90.
van der Post RS, Vogelaar IP, Carneiro F, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52:361-374.
Decourtye-Espiard L, Guilford P. Hereditary diffuse gastric cancer. Gastroenterology. 2023;164:719-735.
Laszkowska M, Silver ER, Schrope B, Kastrinos F, Wang TC, Hur C. Optimal timing of total gastrectomy to prevent diffuse gastric cancer in individuals with pathogenic variants in CDH1. Clin Gastroenterol Hepatol. 2020;18:822-829.
Ueno D, Matsumoto H, Kubota H, et al. Prognostic factors for gastrectomy in elderly patients with gastric cancer. World J Surg Oncol. 2017;15:59.
Corso G, Comelli G, Veronesi P, et al. Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women. J Cancer Res Clin Oncol. 2023;149(17):16147-16155.
Challine A, Voron T, Dousset B, et al. Postoperative outcomes after laparoscopic or open gastrectomy. A national cohort study of 10,343 patients. Eur J Surg Oncol. 2021;47:1985-1995.
Vos EL, Salo-Mullen EE, Tang LH, et al. Indications for total gastrectomy in CDH1 mutation carriers and outcomes of risk-reducing minimally invasive and open gastrectomies. JAMA Surg. 2020;155:1050-1057.
Ju MR, Karalis JD, Blackwell JM, et al. Inaccurate clinical stage is common for gastric adenocarcinoma and is associated with undertreatment and worse outcomes. Ann Surg Oncol. 2021;28(5):2831-2843.
Hamilton JG, Long JM, Brandt AC, et al. Patients' medical and psychosocial experiences after detection of a CDH1 variant with multigene panel testing. JCO Precis Oncol. 2019;3:PO.18.00300.
DorlingDorling L, Carvalho S, Allen J, et al. Breast cancer risk genes: association analysis in more than 113,000 women. N Engl J Med. 2021;384:428-439.
Gamble LA, Rossi A, Fasaye GA, et al. Association between hereditary lobular breast cancer due to CDH1 variants and gastric cancer risk. JAMA Surg. 2022;157:18-22.
Giraldi L, Stojanovic J, Arzani D, et al. Adult height and risk of gastric cancer: a pooled analysis within the stomach cancer Pooling Project. Eur J Cancer Prev. 2023;32:215-221.
Morgan E, Arnold M, Camargo MC, et al. The current and future incidence and mortality of gastric cancer in 185 countries. EClinicalMedicine. 2022;47:101404.
Corso G, Corso F, Bellerba F, et al. Geographical distribution of E-cadherin germline mutations in the context of diffuse gastric cancer: a systematic review. Cancers. 2021;13:1269.
Buiatti E, Palli D, Bianchi S, et al. A case-control study of gastric cancer and diet in Italy. III. Int J Cancer. 1991;48:369-374.
Inaba Y, Goda K, Kondo M, et al. Hereditary diffuse gastric cancer treated by prophylactic total gastrectomy. Intern Med. 2024;63(2):235-239.
Muranaka F, Kise E, Tokumaru S, et al. Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reports. Discov Oncol. 2023;14(1):14.
Lee CYC, Olivier A, Honing J, et al. Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study. Lancet Oncol. 2023;24:107-116.
Asif B, Sarvestani AL, Gamble LA, et al. Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study. Lancet Oncol. 2023;24:383-391.

Auteurs

Giovanni Corso (G)

Division of Breast Surgery, European Institute of Oncology (IEO), IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
European Cancer Prevention Organization (ECP), Milan, Italy.

Jeremy L Davis (JL)

Surgical Oncology Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.

Vivian E Strong (VE)

Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Classifications MeSH