Clinical description and development of a prognostic score for neurofibromatosis type 1 (NF1)-associated GISTs: a retrospective study from the NETSARC+
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Gastrointestinal stromal tumors (GISTs) occur in ∼7% of neurofibromatosis type 1 (NF1) patients. Data about their natural history remain scarce and neither risk classifications, prognosis model nor adjuvant treatment have been validated in this population. METHODS: This national retrospective study included consecutive operated NF1-GIST cases from 31 reference centers in France, mostly from the NETSARC+ network. Factors associated with relapse were used to build a new prognostic score (RECKGIST). To address potential bias between adjuvant group and follow-up group, a propensity score was used. RESULTS: ), respectively. The vast majority were KIT/PDGFRA wild type (mutation KIT 2%, PDGFRA 3%). The median follow-up was 6 years. For GISTs <30 mm (n = 35), none relapsed. For GISTS >30 mm (n = 84), 18 developed metastases (21%). There was no difference in relapse according to tumor location (P = 0.45) or tumor rupture (P = 0.11), whereas KIT/PDGFRA-mutated GISTs were at higher risk of relapse [recurrence-free survival (RFS) at 10 years of 30% versus 82.5% for wild type, P = 0.03]. Miettinen and Joensuu classification did not predict relapse accurately. For the RECKGIST score A (size ≤30 mm, n = 34) group, 10-year RFS was 100%; it was 78.5% in the RECKGIST B group (size >30 mm and 0 < mit ≤ 5, n = 60), and 45.5% in the RECKGIST C group (size >30 mm and mit >5, n = 20) (P < 0.0001). After matching, 10-year RFS was similar between adjuvant and surveillance groups (P = 0.34). CONCLUSIONS: For NF1-GISTs <30 mm, prognosis without relapse is excellent. RECKGIST score accurately predicts recurrence and needs to be validated in an external cohort, but it may help treatment decision making. No efficacy of adjuvant treatment was observed.
Source: ESMO Open
Authors: C. Cuvelier, M. Brahmi, I. Sobhani, B. Verret, A. Grancher, N. Penel, M. Toulmonde, W. Lahlou, H. Dupuis, L. Calavas, M. Muller, S. Watson, D. Bruyat, F. Poumeaud, L. Chaigneau, S. Manfredi, T. Lecomte, F. Bertucci, F. Ghiringhelli, M. Pracht, F. Mourthadhoi, L. Monceau-Baroux, M. Helyon, J.-E. Kurtz, G. Roquin, N. Regenet, M. Vinches, D. Tougeron, P. Wolkenstein, J.Y. Blay, O. Bouche, V. Hautefeuille
Institutions: Centre Hospitalier Universitaire Amiens-Picardie, Centre Léon Bérard, Centre Hospitalier Universitaire Henri-Mondor, Hôpitaux Universitaires Henri-Mondor, Université Paris-Saclay, Institut Gustave Roussy, Centre Hospitalier Universitaire de Rouen, Université de Lille, Centre Hospitalier Universitaire de Lille, Centre Oscar Lambret, Evaluation des technologies de santé et des pratiques médicales, Institut Bergonié, Université Paris Cité, Assistance Publique – Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, Hôpital Claude Huriez, Hospices Civils de Lyon, Centre Hospitalier Régional et Universitaire de Nancy, Inserm, Institut Curie, Institut Paoli-Calmettes, Centre Hospitalier Universitaire de Besançon, Université de Bourgogne, CHU Dijon Bourgogne, Université de Tours, Niche, Nutrition, Cancer et métabolisme oxydatif, Aix-Marseille Université, Centre Georges François Leclerc, Centre Eugène Marquis, Centre Hospitalier Universitaire de Saint-Étienne, Centre Hospitalier Régional Universitaire de Brest, Centre Hospitalier Universitaire de Clermont-Ferrand, Institut de Cancérologie Strasbourg, Centre Hospitalier Universitaire d'Angers, Université d'Angers, Centre Hospitalier Universitaire de Nantes, Centre Hospitalier Universitaire de Poitiers, Centre Hospitalier Universitaire de Reims, Université de Reims Champagne-Ardenne
Language: English
Subfield: Gastroenterology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,910
OpenAlex ID: W4408143950