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Abstract

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Background: Lynch Syndrome due to mutations in one of DNA mismatch repair (MMR) genes, is found in patients with colon cancer (3%).The mutations in these DNA repair genes induce genetic instability and development of ovarian, endometrial, urothelial, gastrointestinal and biliary tract carcinoma. Methods: In our center, 31 patients with Lynch syndrome are followed in Oncology Department in multidisciplinary team according to regional diagnostic therapeutic assistance paths and international guidelines. Immunohistochemical staining (IC) for mismatch repair proteins (MLH1, MSH2, MSH6, PMS2) and microsatellite instability testing (MSI) by PCR real time easyPGX were performed in colon cancer, genetic testing has been preceded by genetic counseling. When GIST diagnosis occurred in patients with colon cancers and Lynch syndrome, IC and MSI were performed in GIST too. Results: MSI-H has been detected in synchronous colo-rectal cancer in 2 patients with GIST. Pathogenetic germline mutations in MSH2 gene were observed in both patients. In 1 female patient with gist of duodenum (very low risk according to Miettinen classification) with previous endometrial cancer and sincronous PT3N0 rectal cancer, we observed MSI-stable in IC and PCR, KIT/PDGFRα wild type in Next GenSequencing analysis, BRAF wild type (PCR-real time), SDH-B + (IC), NTRK 1 (exon 9-10, exon 1-12 del, exon 12), NTRK 2 (exon 12-15.exon 16-17), exon 14, NTRK 3 (exon 14, exon 15) no gene fusion by PCR-real time (CE.IVD kit easy NTRK). In 1 male patient with ileal GIST (intermediate risk according to Miettinen classification ) with ileal adenocarcinoma pT3N0, we observed KIT exon 11 mutated, MSI-stable in IC, when we repeated the analysis using PCR real time EasyPGX, we observed high instability of microsatellites. Conclusions: For the first time we observed in Lynch Syndrome MSH2 mutated, simolutaneous GIST and colon cancer in the same site of ileum and PCR analisys detected a rare exemple of microsatellite instability in GIST.

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Journal of Clinical Oncology
Pages: e23510

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Published online: May 31, 2023
Published in print: June 01, 2023

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Silvia Gasperoni
Department of Oncology and Robotic Surgery, University Hospital Careggi, Florenze, Italy, Florence, -, Italy
Luca Messerini
Experimental and Clinic Department, University Hospital Careggi, Florence, Italy
Francesca Castiglione
SODc Istologia Patologica e Diagnostica Molecolare AOU-Careggi Florence, Italy, Firenze, Italy
Laura Papi
Department of Experimental and Clinical Biomedical Sciences “Mario Serio” Medical Genetics Unit University of Florence, Florence, Italy
Francesca Gensini
Department of Experimental and Clinical Biomedical Sciences “Mario Serio” Medical Genetics Unit, Florence, Italy
Fabio Cianchi
Division of Digestive Surgery. Careggi University Hospital, Florence, Italy, Firenze, Italy
Antonio Taddei
Hepatobiliary Surgery, Careggi University Hospital, Florence, Italy
Paolo Prosperi
Emergency surgery Unit, University Hospital Careggi, Florenze, Italy, Florence, Italy
Federico Perna
Surgical Oncology and Robotics, Department of Oncology and Robotics University Hospital Careggi, Florence, Italy
Francesco Coratti
Digestive Tract Surgey, University Hospital Careggi, Florence, Italy
Lorenzo Antonuzzo
Clinical Oncology Unit, Careggi University Hospital - Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
Department of Oncology and Robotic Surgery, University Hospital Careggi, Florenze, Italy, Florence, -, Italy; Experimental and Clinic Department, University Hospital Careggi, Florence, Italy; SODc Istologia Patologica e Diagnostica Molecolare AOU-Careggi Florence, Italy, Firenze, Italy; Department of Experimental and Clinical Biomedical Sciences “Mario Serio” Medical Genetics Unit University of Florence, Florence, Italy; Department of Experimental and Clinical Biomedical Sciences “Mario Serio” Medical Genetics Unit, Florence, Italy; Division of Digestive Surgery. Careggi University Hospital, Florence, Italy, Firenze, Italy; Hepatobiliary Surgery, Careggi University Hospital, Florence, Italy; Emergency surgery Unit, University Hospital Careggi, Florenze, Italy, Florence, Italy; Surgical Oncology and Robotics, Department of Oncology and Robotics University Hospital Careggi, Florence, Italy; Digestive Tract Surgey, University Hospital Careggi, Florence, Italy; Clinical Oncology Unit, Careggi University Hospital - Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy

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Silvia Gasperoni, Luca Messerini, Francesca Castiglione, Laura Papi, Francesca Gensini, Fabio Cianchi, Antonio Taddei, Paolo Prosperi, Federico Perna, Francesco Coratti, Lorenzo Antonuzzo
Journal of Clinical Oncology 2023 41:16_suppl, e23510-e23510

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