Pellise, M. (María)
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- Risk of cancer in family members of patients with lynch-like syndrome(MDPI AG, 2020) Cubiella, J. (Joaquin); Garau, C. (Catalina); López-Fernández, A. (Adrià); Sánchez, A. (Ariadna); Ramon-y-Cajal, T. (Teresa); Balaguer, F. (Francesc); Carrillo-Palau, M. (Marta); Alustiza, M. (Miren); Herraiz-Bayod, M.J. (Maite J.); López, M.J. (María Jesús); Castells, A. (Antoni); Giner-Calabuig, M. (Mar); Murcia, Ó. (Óscar); Picó, M.D. (María Dolores); Zapater, P. (Pedro); Yagüe, C. (Carmen); Llort, G. (Gemma); Bujanda, L. (Luis); Castillejo, A. (Adela); Jover, R. (Rodrigo); Sánchez‑Heras, A.B. (Ana Beatriz); Moreira, L. (Leticia); Rivas, L. (Laura); Pellise, M. (María); Gisbert-Beamud, A. (Alexandra); Salces, I. (Inmaculada); Lacueva, F.J. (Francisco Javier); Alenda, C. (Cristina); Soto, J.L. (José L.); Alvarez-Urturi, C. (Cristina)Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). We compared the risk of CRC in first-degree relatives (FDRs) in LLS and LS patients. LLS was diagnosed when tumors showed immunohistochemical loss of MSH2, MSH6, and PMS2; or loss of MLH1 with BRAF wild type; and/or no MLH1 methylation and absence of pathogenic mutation in these genes. CRC and other LS-related neoplasms were followed in patients diagnosed with LS and LLS and among their FDRs. Standardized incidence ratios (SIRs) were calculated for CRC and other neoplasms associated with LS among FDRs of LS and LLS patients. In total, 205 LS (1205 FDRs) and 131 LLS families (698 FDRs) had complete pedigrees. FDRs of patients with LLS had a high incidence of CRC (SIR, 2.08; 95% confidence interval (CI), 1.56–2.71), which was significantly lower than that in FDRs of patients with LS (SIR, 4.25; 95% CI, 3.67–4.90; p < 0.001). The risk of developing other neoplasms associated with LS also increased among FDR of LLS patients (SIR, 2.04; 95% CI, 1.44–2.80) but was lower than that among FDR of patients with LS (SIR, 5.01, 95% CI, 4.26–5.84; p < 0.001). FDRs with LLS have an increased risk of developing CRC as well as LS-related neoplasms, although this risk is lower than that of families with LS. Thus, their management should take into account this increased risk.
- Clinical and Pathological Characterization of Lynch-Like Syndrome(AGA Institute, 2020) Picó, M.D. (María Dolores); Castillejo, A. (Adela); Murcia, Ó. (Óscar); Giner-Calabuig, M. (Mar); Alustiza, M. (Miren); Sánchez, A. (Ariadna); Moreira, L. (Leticia); Pellise, M. (María); Castells, A. (Antoni); Carrillo-Palau, M. (Marta); Ramon-y-Cajal, T. (Teresa); Gisbert-Beamud, A. (Alexandra); Llort, G. (Gemma); Yagüe, C. (Carmen); López-Fernández, A. (Adrià); Alvarez-Urturi, C. (Cristina); Cubiella, J. (Joaquin); Rivas, L. (Laura); Rodríguez-Alcalde, D. (Daniel); Herraiz, M. T. (María Teresa); Garau, C. (Catalina); Dolz, C. (Carlos); Bujanda, L. (Luis); Cid, L. (Lucia); Povés, C. (Carmen); Garzon, M. (Marta); Salces, I. (Inmaculada); Ponce, M. (Marta); Hernández-Villalba, L. (Luis); Alenda, C. (Cristina)Background & Aims Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins—this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. Methods We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. Results We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. Conclusions Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC.
- The “diagnose and leave in” strategy for diminutive rectosigmoid polyps in Lynch syndrome: a post hoc analysis from a randomized controlled trial(2020) Rivero-Sánchez, L. (Liseth); Gavric, A. (Aleksandar); Herrero, J. (Jesús); Remedios, D. (David); Alvarez, V. (Victoria); Albéniz, E. (Eduardo); Gordillo, J. (Jordi); Puig, I. (Ignasi); López-Vicente, J. (Jorge); Huerta, A. (Alain); Lopez-Ceron, M. (Maria); Salces, I. (Inmaculada); Peñas, B. (Beatriz); Parejo, S. (Sofía); Rodriguez-de-Santiago, E. (Enrique); Herraiz, M. T. (María Teresa); Carretero, C. (Cristina); Gimeno-García, A.Z. (A. Z.); Saperas, E. (Esteban); Alvarez-Urturi, C. (Cristina); Arnau-Collell, C. (Coral); Ortiz, O. (Oswaldo); Sánchez, A. (Ariadna); Jung, G. (Gerhard); Balaguer, F. (Francesc); Pellise, M. (María)Background: The "diagnose-and-leave-in" policy has been established to reduce the risks and costs related to unnecessary polypectomies in the average-risk population. In individuals with Lynch syndrome, owing to accelerated carcinogenesis, the general recommendation is to remove all polyps, irrespective of size, location, and appearance. We evaluated the feasibility and safety of the diagnose-and-leave-in strategy in individuals with Lynch syndrome. METHODS : We performed a post hoc analysis based on per-polyp data from a randomized, clinical trial conducted by 24 dedicated colonoscopists at 14 academic centers, in which 256 patients with confirmed Lynch syndrome underwent surveillance colonoscopy from July 2016 to January 2018. In vivo optical diagnosis with confidence level for all detected lesions was obtained before polypectomy using virtual chromoendoscopy alone or with dye-based chromoendoscopy. Primary outcome was the negative predictive value (NPV) for neoplasia of high-confidence optical diagnosis among diminutive (≤ 5 mm) rectosigmoid lesions. Histology was the reference standard. Results: Of 147 rectosigmoid lesions, 128 were diminutive. In 103 of the 128 lesions (81 %), the optical diagnostic confidence was high and showed an NPV of 96.0 % (95 % confidence interval [CI] 88.9 %-98.6 %) and accuracy of 89.3 % (95 %CI 81.9 %-93.9 %). By following the diagnose-and-leave-in policy, we would have avoided 59 % (75/128) of polypectomies at the expense of two diminutive low grade dysplastic adenomas and one diminutive sessile serrated lesion that would have been left in situ. Conclusion: In patients with Lynch syndrome, the diagnose-and-leave-in strategy for diminutive rectosigmoid polyps would be feasible and safe.
- Factors associated with lesion detection in colonoscopy among different indications(Wiley, 2022) Mangas‐Sanjuan, C. (Carolina); Seoane, A. (Agustín); Alvarez‐Gonzalez, M. A. (Marco Antonio); Luè, A. (Alberto); Suárez, A. (Adolfo); Álvarez‐García, V. (Verónica); Bujanda, L. (Luis); Portillo, I. (Isabel); González, N. (Natalia); Cid, L. (Lucia); Cubiella, J. (Joaquin); Rodríguez‐Camacho, E. (Elena); Ponce, M. (Marta); Díez‐Redondo, P. (Pilar); Herraiz, M. T. (María Teresa); Pellise, M. (María); Ono, A. (Akiko); Baile‐Maxía, S. (S.); Medina‐Prado, L. (L.); Murcia, Ó. (Óscar); Zapater, P. (Pedro); Jover, R. (Rodrigo)Background and objective: Different factors may influence colonoscopy performance measures. We aimed to analyze procedure‐ and endoscopist‐related factors associated with detection of colorectal lesions and whether these factors have a similar influence in the context of different colonoscopy indications: positive fecal immunochemical test (+FIT) and post‐polypectomy surveillance colonoscopies. Methods: This multicenter cross‐sectional study included adults aged 40–80 years. Endoscopists (N = 96) who had performed ≥50 examinations were assessed for physician‐related factors. Adenoma detection rate (ADR), adenomas per colonoscopy rate (APCR), advanced ADR, serrated polyp detection (SDR), and serrated polyps per colonoscopy rate (SPPCR) were calculated. Results: We included 12,932 procedures, with 4810 carried out after a positive FIT and 1967 for surveillance. Of the 96 endoscopists evaluated, 43.8% were women, and the mean age was 41.9 years. The ADR, advanced ADR, and SDR were 39.7%, 17.7%, and 12.8%, respectively. Adenoma detection rate was higher in colonoscopies after a +FIT (50.3%) with a more than doubled advanced ADR compared to non‐FIT procedures (27.6% vs. 13.0%) and similar results in serrated lesions (14.7% vs. 13.5%). Among all the detection indicators analyzed, withdrawal time was the only factor independently related to improvement (p < 0.001). Regarding FIT‐ positive and surveillance procedures, for both indications, withdrawal time was also the only factor associated with a higher detection of adenomas and serrated polyps (p < 0.001). Endoscopist‐related factors (i.e., weekly hours dedicated to endoscopy, annual colonoscopy volume and lifetime number of colonoscopies performed) had also impact on lesion detection (APCR, advanced ADR and SPPCR). Conclusions: Withdrawal time was the factor most commonly associated with improved detection of colonic lesions globally and in endoscopies for + FIT and post‐polypectomy surveillance. Physician‐related factors may help to address strategies to support training and service provision. Our results can be used for establishing future benchmarking and quality improvement in different colonoscopy indications.