They have been collected in a document published in recent days, entitled ‘Lynch Syndrome: a shared commitment to improve prevention, diagnosis and treatment pathways’, the results of an institutional roundtable promoted by Fondazione Onda Ets last July 11, in virtual mode, with the patronage of the Italian Association for Familiarity and Hereditary Tumors (Aifet), the Italian Association of Medical Oncology (Aiom), Cittadinanzattiva Aps, the Italian Federation of Volunteer Associations in Oncology (Favo), the Italian Federation of Rare Diseases Onlus (Uniamo), with the unconditional contribution of Gsk. The event – as stated in a note – was an opportunity for a discussion between institutions, the scientific community, patient associations and civil society from which intervention trajectories emerged to increase knowledge of hereditary-familial tumors, with particular reference to Lynch Syndrome, to promote fair and homogeneous access to pathways dedicated to the evaluation of the genetic risk profile and to reference centers. Currently, only two Regions, Lombardy and Campania, recommend specific tests to identify subjects at risk.
Lynch syndrome is an inherited condition associated with an increased risk of developing various types of cancer over a lifetimemainly gastric, colorectal and endometrial cancers. Still largely underdiagnosed today, 98% of patients are not identified in time. Furthermore, diagnostic and therapeutic pathways are markedly heterogeneous at the regional level, with consequent disparities across the country with respect to its identification. Yet it would take very little to identify potential patients in time, thus saving them from an often invasive and disabling therapeutic pathway. A simple test, already included for some time in the Essential Levels of Assistance (Lea), could not only allow monitoring of people at risk, but also reduce mortality, for example from colon cancer, by up to 60%, thanks precisely to timely patient care. These are huge numbers that, at the moment, remain written on paper, like the suggestion of universal screening, dated 2008, and the specific indications of the National Oncology Plan.
The Aiom Recommendations published in 2022 provide for the integration of the universal test on histological samples of all new cases of colorectal and endometrial cancers with oncological genetic counseling, essential for a correct interpretation of the test and for the definition of personalized prevention and surveillance programs. Only two Regions, Lombardy and Campania, have recommended, through specific decrees, the use of immunohistochemical analysis for the evaluation of MMR proteins on all new cases of colorectal and endometrial cancer as a universal test to identify Lynch Syndrome.
Campania, in particular, has codified a specific path for Lynch Syndrome within the Pdta dedicated to hereditary-familial tumors and built a multidisciplinary care model in conjunction with general medicine and six reference centers for genetic counseling. Other Regions suggest but do not formalize the use of the universal test, with the consequent use of the test spontaneously and in the absence of coordination with the oncology genetic counseling path.
Lynch syndrome can be caused by variants of genes encoding proteins involved in the DNA mismatch repair system – the so-called MMR genes, in particular Mlh1, Pms2, Msh2 and Msh6 – whose frequency in the general population has been estimated at 1 in 279. Numerous evidences demonstrate the effectiveness of prevention strategies – through intensive surveillance programs or prophylactic surgery – in subjects carrying one of these variants. In many countries, the use of universal screening has been proposed through immunohistochemical analysis of MMR proteins in histological samples of all new cases of colorectal and endometrial tumors. The so-called somatic test (performed on the tumor) must then be followed by a genetic counseling process aimed at identifying subjects carrying pathogenic variants affected by Lynch syndrome and planning the care of their family members at high oncological risk. “Despite the availability of robust evidence demonstrating the effectiveness of prevention strategies in subjects carrying pathogenic variants, in terms of greater survival and better quality of life, as well as reduction of costs for the health system – states Francesca Merzagora, president of the Onda Ets Foundation – in our country there is a marked lack of homogeneity in the paths for identifying Lynch Syndrome. An open dialogue and a constructive comparison between scientific societies, patient associations and institutions represent the essential prerequisites for addressing a complex and multidimensional challenge that is not only organizational and educational but also cultural, to ensure equity and equal opportunities for all citizens in all Regions”.
The lack of geneticists is one of the main critical issues and is aggravated by the absence in the Italian health system of a professional figure to support (genetic counsellor). To ensure fair and homogeneous access to screening and care pathways for subjects at high hereditary-familial risk, it is necessary to invest resources in oncology networks, in the training of doctors and in digitalization. “We will follow up with Parliament on the necessary initiatives to take into account the needs of these people”, concludes the Honorable Elisabetta Gardini, Co-founder of the Parliamentary Intergroup on Rare Diseases and Oncology.
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