TY - JOUR
T1 - Prevalence, treatment and survival of malignant peripheral nerve sheath tumor in the Danish neurofibromatosis type 1 population
AU - Aggerholm-Pedersen, Ninna
AU - Handrup, Mette Møller
AU - Thomassen, Stine Bogestofte
AU - Engelmann, Bodil
AU - Kongstad, Katja Maretty
AU - Jakobsen, Maria Vad
AU - Baad-Hansen, Thomas
AU - Farholt, Stense
AU - Thomas, David
AU - Ejerskov, Cecilie
N1 - Publisher Copyright:
© The Author(s) 2026. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
PY - 2026/8
Y1 - 2026/8
N2 - Purpose: While neurofibromatosis type 1 (NF1)-associated malignant peripheral nerve sheath tumor (nfMPNST) is often considered to have a particularly poor prognosis compared to sporadic malignant peripheral nerve sheath tumor (sMPNST), this assumption remains insufficiently substantiated. This study aimed to compare clinical characteristics, treatment outcome, and survival between nfMPNST and sMPNST in a nationwide Danish cohort. Patient and method: We conducted a retrospective cohort study of patients with malignant peripheral nerve sheath tumor (MPNST) in Denmark from 2000 to 2020. NF1-associated cases were identified through a national NF1 registry, while sporadic cases of MPNST were extracted from the Danish Sarcoma Database. Clinical, pathological, and treatment data were supplemented by chart review and national pathology records. Survival outcomes were analyzed using Kaplan–Meier estimates and Cox proportional hazards models. Results: A total of 146 patients were included, of which 42 had nfMPNST and 104 sMPNST. Patients with nfMPNST were significantly younger at diagnosis (median 37 [min-max: 12-73] vs 58 [min-max: 5-93] years, P < .001) and had larger tumors (>5 cm in 88% vs 50%, P < .001). Wide margin resection was achieved less often in nfMPNST (35% vs 66%, P = .003), and adjuvant radiotherapy was more commonly administered (61% vs 36%). Five-year overall survival for localized disease was significantly lower in nfMPNST (44% vs 63%, P = .03), with higher recurrence rates (69% vs 49%, P = .049) and shorter time to recurrence (median 2.2 vs 3.4 years). Among 27 sMPNST tumors analyzed by next-generation sequencing, 5 (19%) harbored pathogenic NF1 variants. Conclusion: nfMPNST presents at a younger age with more aggressive features and worse outcomes compared to sporadic cases. These findings support the need for tailored surveillance and treatment strategies in NF1 patients and highlight the potential role of NF1 alterations in sMPNST pathogenesis.
AB - Purpose: While neurofibromatosis type 1 (NF1)-associated malignant peripheral nerve sheath tumor (nfMPNST) is often considered to have a particularly poor prognosis compared to sporadic malignant peripheral nerve sheath tumor (sMPNST), this assumption remains insufficiently substantiated. This study aimed to compare clinical characteristics, treatment outcome, and survival between nfMPNST and sMPNST in a nationwide Danish cohort. Patient and method: We conducted a retrospective cohort study of patients with malignant peripheral nerve sheath tumor (MPNST) in Denmark from 2000 to 2020. NF1-associated cases were identified through a national NF1 registry, while sporadic cases of MPNST were extracted from the Danish Sarcoma Database. Clinical, pathological, and treatment data were supplemented by chart review and national pathology records. Survival outcomes were analyzed using Kaplan–Meier estimates and Cox proportional hazards models. Results: A total of 146 patients were included, of which 42 had nfMPNST and 104 sMPNST. Patients with nfMPNST were significantly younger at diagnosis (median 37 [min-max: 12-73] vs 58 [min-max: 5-93] years, P < .001) and had larger tumors (>5 cm in 88% vs 50%, P < .001). Wide margin resection was achieved less often in nfMPNST (35% vs 66%, P = .003), and adjuvant radiotherapy was more commonly administered (61% vs 36%). Five-year overall survival for localized disease was significantly lower in nfMPNST (44% vs 63%, P = .03), with higher recurrence rates (69% vs 49%, P = .049) and shorter time to recurrence (median 2.2 vs 3.4 years). Among 27 sMPNST tumors analyzed by next-generation sequencing, 5 (19%) harbored pathogenic NF1 variants. Conclusion: nfMPNST presents at a younger age with more aggressive features and worse outcomes compared to sporadic cases. These findings support the need for tailored surveillance and treatment strategies in NF1 patients and highlight the potential role of NF1 alterations in sMPNST pathogenesis.
KW - NF1 associated MPNST
KW - prognosis
KW - sarcoma
UR - https://www.scopus.com/pages/publications/105045337579
U2 - 10.1093/oncolo/oyag255
DO - 10.1093/oncolo/oyag255
M3 - Journal article
C2 - 42397226
AN - SCOPUS:105045337579
SN - 1083-7159
VL - 31
JO - Oncologist
JF - Oncologist
IS - 8
M1 - oyag255
ER -