Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group

Lorenzo D’Ambrosio; Marta Sbaraglia; Alessandra Merlini; Martina Rabino; Giovanni Grignani; Viviana Appolloni; Giuseppe Badalamenti; Giacomo Giulio Baldi; Elena Bellan; Matteo Benelli; Alexia Francesca Bertuzzi; Roberto Biagini; Giuseppe Bianchi; Antonella Boglione; Antonella Brunello; Domenico Andrea Campanacci; Ferdinando Cananzi; Paolo Giovanni Casali; Beatrice Casini; Marilena Cesari; Benedetta Chiusole; Camilla Cristalli; Alessandro De Vita; Elena Di Blasi; Franca Fagioli; Valentina Fausti; Virginia Ferraresi; Anna Maria Frezza; Elena Fumagalli; Marco Gambarotti; Claudia Giani; Alessandro Gronchi; Massimiliano Grassi; Toni Ibrahim; Andrei Ivanescu; Gianluca Ignazzi; Lorena Incorvaia; Alessandra Linari; Roberto Luksch; Andrea Marrari; Alessandro Mazzocca; Giuseppe Maria Milano; Carlo Morosi; Margherita Nannini; Pierina Navarria; Elena Palassini; Emanuela Palmerini; Fiammetta Paloschi; Maria Abbondanza Pantaleo; Sandro Pasquali; Valeria Pavese; Enrico Pozzo; Vittorio Quagliuolo; Michela Quirino; Roberta Sanfilippo; Federica Santoro; Katia Scotlandi; Massimo Serra; Elisabetta Setola; Sabino Strippoli; Salvatore Tafuto; Elisa Tirtei; Silvia Vanni; Bruno Vincenzi; Roberta Maestro; Angelo Paolo Dei Tos; Silvia Stacchiotti

doi:10.1016/j.critrevonc.2025.104960

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Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group

Journal article

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Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group

Lorenzo D’Ambrosio, Marta Sbaraglia, Alessandra Merlini, Martina Rabino, Giovanni Grignani, Viviana Appolloni, Giuseppe Badalamenti, Giacomo Giulio Baldi, Elena Bellan, Matteo Benelli, …

Critical reviews in oncology/hematology, Vol.216, p.104960

2025-12-01

DOI: https://doi.org/10.1016/j.critrevonc.2025.104960

PMID: 40998028

Appears in Miller School of Medicine - Latest Publications

Abstract

Bone tumors

GIST

Massive parallel sequencing

Next generation sequencing

Sarcoma

Extended molecular profiling using massive parallel sequencing (MPS) technologies, commonly referred to as next-generation sequencing (NGS), has revolutionized cancer diagnosis and treatment, including in bone and soft tissue sarcomas (BSTS). This heterogeneous group of mesenchymal tumors presents a complex spectrum of genetic alterations, such as chromosomal rearrangements, point mutations, and copy number variations. Unlike carcinomas, where driver mutations are often well defined, the role of specific genomic signatures in dictating BSTS prognosis and therapy response remains to be fully elucidated. Despite its promise, the adoption of MPS/NGS in BSTS is limited by variability in testing access, turnaround times, specimen quality, costs, and data interpretation. Although identified alterations are often not yet directly targetable, they provide critical insights that can refine diagnosis, enable better patient stratification, and guide treatment strategies. To optimize the use of MPS/NGS in BSTS, harmonization and multidisciplinary collaboration within molecular tumor boards (MTBs) are essential. With this aim, the Italian Sarcoma Group ETS (ISG) convened a consensus meeting to establish best practices for integrating MPS/NGS into everyday clinical care. ISG experts developed ten consensus statements: the first five address the role of extended molecular profiling in BSTS diagnostics, while the others offer guidance on MPS/NGS use and interpretation when searching for potentially actionable targets in the treatment of advanced disease. Furthermore, collaboration with the National Rare Cancer Network to offer expert consultation and systematically correlate MPS/NGS findings with clinical outcomes for BSTS cases undergoing extended molecular profiling will be critical to advancing precision medicine in this field. [Display omitted] •Extensive molecular profiling improved diagnosis and treatment in sarcomas.•Clinical and therapeutic implications of sarcoma genetic alterations remain unclear.•NGS implementation in sarcomas is still limited despite its potential benefits.•Multidisciplinary tumor boards are key for equitable access to precision medicine.•ISG consensus aims to improve NGS use for diagnosis and treatment of sarcomas.

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Title: Extended molecular profiling in mesenchymal tumors: a consensus paper from the Italian Sarcoma Group
Creators: Lorenzo D’Ambrosio - Department of Oncology, University of Torino, Regione Gonzole 10, Orbassano, TO 10043, Italy
Marta Sbaraglia - Azienda Ospedale - Università Padova
Alessandra Merlini - Department of Oncology, University of Torino, Regione Gonzole 10, Orbassano, TO 10043, Italy
Martina Rabino - Department of Oncology, University of Torino, Regione Gonzole 10, Orbassano, TO 10043, Italy
Giovanni Grignani - Candiolo Cancer Institute
Viviana Appolloni - Italian Sarcoma Group
Giuseppe Badalamenti - Department of Precision Medicine in Medical, Surgical and Critical Care (Me.Pre.C.C.), Section of Medical Oncology, University of Palermo, Via Liborio Giuffrè 5, Palermo 90127, Italy
Giacomo Giulio Baldi - Azienda Usl Toscana Centro
Elena Bellan - Azienda Ospedale - Università Padova
Matteo Benelli - University of Firenze, Piazza San Marco 4, Firenze 50121, Italy
Alexia Francesca Bertuzzi - IRCCS Humanitas Research Hospital
Roberto Biagini
Giuseppe Bianchi - Istituto Ortopedico Rizzoli
Antonella Boglione - Ospedale San Giovanni Bosco
Antonella Brunello - Istituto Oncologico Veneto
Domenico Andrea Campanacci - Department of Surgery, Azienda Ospedaliera Universitaria Careggi, Largo Brambilla 3, Firenze 50134, Italy
Ferdinando Cananzi - IRCCS Humanitas Research Hospital
Paolo Giovanni Casali - Fondazione IRCCS Istituto Nazionale dei Tumori
Beatrice Casini - Department of Pathology, IRCCS Regina Elena National Cancer Institute, Via Chianesi 53, Rome 00144, Italy
Marilena Cesari - Istituto Ortopedico Rizzoli
Benedetta Chiusole - Istituto Oncologico Veneto
Camilla Cristalli - Istituto Ortopedico Rizzoli
Alessandro De Vita - Preclinic and Osteoncology Unit, Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via Piero Maroncelli 40, Meldola 47014, Italy
Elena Di Blasi - Fondazione IRCCS Istituto Nazionale dei Tumori
Franca Fagioli - Ospedale Regina Margherita
Valentina Fausti - Terapie cellulari avanzate e tumori rari, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via Piero Maroncelli 40, Meldola 47014, Italy
Virginia Ferraresi - Department of Sarcomas and Rare Tumors Departmental Unit, IRCCS Regina Elena National Cancer Institute, Via Chianesi 53, Rome 00144, Italy
Anna Maria Frezza - Fondazione IRCCS Istituto Nazionale dei Tumori
Elena Fumagalli - Fondazione IRCCS Istituto Nazionale dei Tumori
Marco Gambarotti - Istituto Ortopedico Rizzoli
Claudia Giani - Fondazione IRCCS Istituto Nazionale dei Tumori
Alessandro Gronchi - Fondazione IRCCS Istituto Nazionale dei Tumori
Massimiliano Grassi - Ospedale Policlinico San Martino
Toni Ibrahim - Istituto Ortopedico Rizzoli
Andrei Ivanescu - Associazione EHE Italia, Concorezzo, MB 20863, Italy
Gianluca Ignazzi - Italian Sarcoma Group
Lorena Incorvaia - Department of Precision Medicine in Medical, Surgical and Critical Care (Me.Pre.C.C.), Section of Medical Oncology, University of Palermo, Via Liborio Giuffrè 5, Palermo 90127, Italy
Alessandra Linari - Pathology Unit, Città della Salute e della Scienza di Torino, Corso Bramante 88, Torino 10126, Italy
Roberto Luksch - Fondazione IRCCS Istituto Nazionale dei Tumori
Andrea Marrari - Istituto Ortopedico Rizzoli
Alessandro Mazzocca - Università Campus Bio-Medico
Giuseppe Maria Milano - Bambino Gesù Children's Hospital
Carlo Morosi - Fondazione IRCCS Istituto Nazionale dei Tumori
Margherita Nannini - University of Bologna
Pierina Navarria - IRCCS Humanitas Research Hospital
Elena Palassini - Fondazione IRCCS Istituto Nazionale dei Tumori
Emanuela Palmerini - Istituto Ortopedico Rizzoli
Fiammetta Paloschi - Gist
Maria Abbondanza Pantaleo - University of Bologna
Sandro Pasquali - Fondazione IRCCS Istituto Nazionale dei Tumori
Valeria Pavese - Department of Oncology, University of Torino, Regione Gonzole 10, Orbassano, TO 10043, Italy
Enrico Pozzo - IRCCS Humanitas Research Hospital
Vittorio Quagliuolo - IRCCS Humanitas Research Hospital
Michela Quirino - Medical Oncology, Policlinico Gemelli, Largo Agostino Gemelli 8, Roma 00136, Italy
Roberta Sanfilippo - Fondazione IRCCS Istituto Nazionale dei Tumori
Federica Santoro - Pathology Unit, Città della Salute e della Scienza di Torino, Corso Bramante 88, Torino 10126, Italy
Katia Scotlandi - Istituto Ortopedico Rizzoli
Massimo Serra - Istituto Ortopedico Rizzoli
Elisabetta Setola - Ripamonti
Sabino Strippoli - Rare Tumors and Melanoma Unit, I.R.C.C.S. Istituto Tumori "Giovanni Paolo II", Viale Orazio Flacco 65, Bari 70124, Italy
Salvatore Tafuto - Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale"
Elisa Tirtei - Ospedale Regina Margherita
Silvia Vanni - Preclinic and Osteoncology Unit, Biosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", Via Piero Maroncelli 40, Meldola 47014, Italy
Bruno Vincenzi - Università Campus Bio-Medico
Roberta Maestro - Centro di Riferimento Oncologico
Angelo Paolo Dei Tos - Azienda Ospedale - Università Padova
Silvia Stacchiotti - Fondazione IRCCS Istituto Nazionale dei Tumori
Publication Details: Critical reviews in oncology/hematology, Vol.216, p.104960
Publisher: Elsevier B.V
Academic Unit: Miller School of Medicine; UMMG Dept of Medicine - Hematology/Oncology
Language: English
Resource Type: Journal article
PMID: 40998028
Record Identifier: 991032861099302976