Artículo de revista
Hereditary diffuse gastric cancer: updated clinical practice guidelines
Fecha
2020Registro en:
The Lancet Oncology Volume 21, Issue 8, August 2020, Pages e386-e397
10.1016/S1470-2045(20)30219-9
Autor
Blair, Vanessa R
McLeod, Maybelle
Carneiro, Fátima
Coit, Daniel G.
D'Addario, Johanna L.
van Dieren, Jolanda M.
Harris, Kirsty L.
Hoogerbrugge, Nicoline
Oliveira, Carla
van der Post, Rachel S.
Arnold, Julie
Benusiglio, Patrick R.
Bisseling, Tanya M.
Boussioutas, Alex
Cats, Annemieke
Charlton, Amanda
Chelcun Schreiber, Karen E.
Davis, Jeremy L.
di Pietro, Massimiliano
Fitzgerald, Rebecca C.
Ford, James M.
Gamet, Kimberley
Gullo, Irene
Hardwick, Richard H.
Huntsman, David G.
Kaurah, Pardeep
Kupfer, Sonia S.
Latchford, Andrew
Mansfield, Paul F.
Nakajima, Takeshi
Parry, Susan
Rossaak, Jeremy
Sugimura, Haruhiko
Svrcek, Magali
Tischkowitz, Marc
Ushijima, Toshikazu
Yamada, Hidetaka
Yang, Han-Kwang
Claydon, Adrian
Figueiredo, Joana
Paringatai, Karyn
Seruca, Raquel
Bougen-Zhukov, Nicola
Brew, Tom
Busija, Simone
Carneiro, Patricia
DeGregorio, Lynn
Fisher, Helen
Gardner, Erin
Godwin, Tanis D.
Holm, Katharine N.
Humar, Bostjan
Lintott, Caroline J.
Monroe, Elizabeth C.
Muller, Mark D.
Norero, Enrique
Nouri, Yasmin
Paredes, Joana
Sanches, João M.
Schulpen, Emily
Ribeiro, Ana S.
Sporle, Andrew
Whitworth, James
Zhang, Liying
Reeve, Anthony E.
Guilford, Parry
Institución
Resumen
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.