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IRIS è il sistema di gestione integrata dei dati della ricerca (persone, progetti, pubblicazioni, attività) adottato dall'Università degli Studi di Milano.
AIR nasce in UNIMI nel 2006 con lo scopo di raccogliere, documentare e conservare le informazioni sulla produzione scientifica dell'Università degli Studi di Milano e costituisce di fatto l'Anagrafe della ricerca dell'Ateneo.
EnglishImportance: Thymic carcinoma (TC) is a rare aggressive tumour occurring in adults characterised by one of the lowest tumor mutational burdens (TMB). Microsatellite instability (MSI) is a mutational signature, caused by defects in the DNA MisMatch Repair (MMR) system, that predicts benefit from immunotherapy and causes high TMB. Fragmentary and unstructured evidence of these conditions co-occurring are reported in literature. Objective: Review available data on the co-occurrence of these two conditions and determine its frequency in our institute case series. Design: We performed a systematic analysis of literature and a retrospective evaluation of all the cases of TET treated at our institution from 2000 to 2020, selecting patients with a medical history of multiple tumours to enhance a priori probability of identifying cases with underlying predisposition. Results: Literature yielded 3 cases of patients with MSI TC, for which MMR gene alteration was reported. None of them received immunotherapy. Of 366 patients with TETs treated in our institute, 32 had a medical history of multiple tumours and 25 of 32 (19 thymomas and 6 TCs) had available tissue for MMR analysis. One patient with TC showed a high TMB, and MSI due to MLH1 mutation and was treated in a phase II study with avelumab and axitinib combination obtaining a long-lasting partial response. MLH1 alterations are shared across MSI TC cases.
Thymic carcinoma with Lynch syndrome or microsatellite instability, a rare entity responsive to immunotherapy / M. Repetto, F. Conforti, S. Pirola, M. Calvello, L. Pala, B. Bonanni, C. Catania, G. Curigliano, T. De Pas. - In: EUROPEAN JOURNAL OF CANCER. - ISSN 0959-8049. - 153(2021), pp. 162-167. [10.1016/j.ejca.2021.05.029]
| Titolo: | Thymic carcinoma with Lynch syndrome or microsatellite instability, a rare entity responsive to immunotherapy | |
| Autori: | ||
| Parole Chiave: | Thymic epithelial tumours; Lynch syndrome; Thymic cancer; Immunotherapy; Tumor mutational burden | |
| Settore Scientifico Disciplinare: | Settore MED/06 - Oncologia Medica | |
| Data di pubblicazione: | 2021 | |
| Rivista: | ||
| Tipologia: | Article (author) | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.ejca.2021.05.029 | |
| Appare nelle tipologie: | 01 - Articolo su periodico |
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