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

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.

Authors

Institutions

Publication Details

Journal
Critical Reviews in Oncology/Hematology
Published
2025-09-24
DOI
https://doi.org/10.1016/j.critrevonc.2025.104960
Citations
2
Primary Topic
Sarcoma Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
3.04
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Alessandro Mazzocca, Camilla Cristalli, Salvatore Tafuto, Elena Di Blasi et al.
2 citations
Critical Reviews in Oncology/Hematology
Sarcoma Diagnosis and Treatment
3.04
article

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

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

Abstract

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.

Critical Reviews in Oncology/HematologyVol. 216
Humanitas University (IT), University of Padua (IT), Università Campus Bio-Medico (IT), Fondazione Roma (IT), Agostino Gemelli University Polyclinic (IT), Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IT), Italian Sarcoma Group (IT), Istituto Oncologico Veneto (IT), Azienda Ospedaliero-Universitaria Careggi (IT), Azienda USL di Bologna (IT), Ospedale San Giovanni Bosco (IT), Istituto Ortopedico Rizzoli (IT), Bambino Gesù Children's Hospital (IT), Centro di Riferimento Oncologico (IT), Istituto Tumori Bari (IT), National Cancer Institute (MY), Ospedale Regina Margherita (IT), Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale" (IT), Campus Bio Medico University Hospital (IT), Ospedale Policlinico San Martino (IT), Azienda Ospedale - Università Padova (IT), Ospedale San Giuseppe (IT), Associazione Italiana Arbitri (IT), Candiolo Cancer Institute (IT), Ospedale San Luigi Gonzaga (IT), Azienda Usl Toscana Centro (IT), Fondazione IRCCS Istituto Nazionale dei Tumori (IT), Sylvester Comprehensive Cancer Center (US), IRCCS Humanitas Research Hospital (IT), Hospital of Prato (IT), University of Florence (IT), University of Turin (IT), European Institute of Oncology (IT), University of Palermo (IT)
Openalex Percentile: Top 8%
Sarcoma Diagnosis and Treatment
3.04
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.