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Practice Guideline
. 2021 May 27;108(5):484-498.
doi: 10.1002/bjs.11902.

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

T T Seppälä  1   2 , A Latchford  3   4 , I Negoi  5 , A Sampaio Soares  6 , R Jimenez-Rodriguez  7 , L Sánchez-Guillén  8 , D G Evans  9 , N Ryan  10   11 , E J Crosbie  10 , M Dominguez-Valentin  12 , J Burn  13 , M Kloor  14   15 , M von Knebel Doeberitz  14   15 , F J B van Duijnhoven  16 , P Quirke  17 , J R Sampson  18 , P Møller  12   19 , G Möslein  20   19 ; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
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Practice Guideline

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

T T Seppälä et al. Br J Surg. .

Abstract
in English, Spanish

Background: Lynch syndrome is the most common genetic predisposition for hereditary cancer but remains underdiagnosed. Large prospective observational studies have recently increased understanding of the effectiveness of colonoscopic surveillance and the heterogeneity of cancer risk between genotypes. The need for gene- and gender-specific guidelines has been acknowledged.

Methods: The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed a multidisciplinary working group consisting of surgeons, clinical and molecular geneticists, pathologists, epidemiologists, gastroenterologists, and patient representation to conduct a graded evidence review. The previous Mallorca guideline format was used to revise the clinical guidance. Consensus for the guidance statements was acquired by three Delphi voting rounds.

Results: Recommendations for clinical and molecular identification of Lynch syndrome, surgical and endoscopic management of Lynch syndrome-associated colorectal cancer, and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum. Manchester consensus guidelines for gynaecological management were endorsed. Executive and layperson summaries were provided.

Conclusion: The recommendations from the EHTG and ESCP for identification of patients with Lynch syndrome, colorectal surveillance, surgical management of colorectal cancer, lifestyle and chemoprevention in Lynch syndrome that reached a consensus (at least 80 per cent) are presented.

Antecedentes: El síndrome de Lynch (Lynch síndrome, LS) es la predisposición genética más frecuente para el cáncer hereditario, pero es una patología que sigue siendo infradiagnosticada. Recientemente, grandes estudios prospectivos observacionales han permitido comprender mejor la efectividad de la vigilancia mediante colonoscopia y la heterogeneidad del riesgo de cáncer entre genotipos. Se ha reconocido la necesidad de pautas específicas en función de los genes y del género.

Métodos: El Grupo Europeo de Tumores Hereditarios (European Hereditary Tumour Group, EHTG) y la Sociedad Europea de Coloproctología (European Society of Coloproctology, ESCP) desarrollaron un grupo de trabajo multidisciplinar formado por cirujanos, genetistas clínicos y moleculares, patólogos, epidemiólogos, gastroenterólogos y una representación de pacientes para llevar a cabo una revisión para establecer los grados de evidencia. Se utilizó el formato anterior de las “Guías de Mallorca” para revisar las recomendaciones clínicas. El consenso para las declaraciones de la guía se alcanzó tras tres rondas de votación según el método Delphi.

Resultados: Se elaboraron recomendaciones para la identificación clínica y molecular del LS, manejo quirúrgico y endoscópico del cáncer colorrectal asociado con el LS y medidas preventivas para el cáncer. Se hizo hincapié en los aspectos quirúrgicos y gastroenterológicos del espectro del cáncer. Se aprobaron las recomendaciones de consenso de Manchester para el manejo ginecológico. Se distribuyeron resúmenes para profesionales y el público en general.

Conclusión: Se presentan las recomendaciones de la EHTG y ESCP para la identificación de pacientes con LS, vigilancia colorrectal, manejo quirúrgico del cáncer colorrectal, estilo de vida y quimioprevención en LS en las que se obtuvo consenso (> 80%).

Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.

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Figures

Fig. 1
Fig. 1
Summary of core content of the recommendations MMR, mismatch repair; IHC, immunohistochemical; MSI, microsatellite instability; CRC, colorectal cancer; EHTG, European Hereditary Tumour Group; ESCP, European Society of Coloproctology.
Fig. 2
Fig. 2
Clinical classification of hereditary non-polyposis colorectal cancer and causal genes HNPCC, hereditary non-polyposis colorectal cancer; MMR, mismatch repair.
See this image and copyright information in PMC

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