Objective: The aim of this study is to assess the association between clinical and radiological features as well as of isocitrate dehydrogenase 1 and 2 (IDH 1,2) mutations with outcome in head and neck chondrosarcomas. Study Design: Retrospective study. Setting: Tertiary referral center. Methods: Clinical, histological, and molecular data of patients with head and neck chondrosarcomas treated by surgery were collected. Results: Forty-six patients were included. The mean age at diagnosis was 56 years (range, 17-78). The tumor originated from the skull base (52.2%), facial bones (28.2%), or laryngotracheal area (19.6%). At last follow-up (median 52.5 months), 38 patients were alive, 30 of which were disease free, whereas 8 had died, 4 of disease progression and 4 of other causes. Fourteen (30.4%) had local recurrence and 2 (4.3%) had lung metastasis. All cases were negative for cytokeratin AE1/AE3, brachyury, and IDH1 at immunohistochemistry, while Sanger sequencing identified IDH1/2 point mutations, typically IDH1 R132C, in 9 (37.5%) tumors arising from the skull base. Margin infiltration on the surgical specimen negatively affected the outcome, whereas no correlation was identified with IDH mutation status. Conclusions: An adequate margin positively affects survival. IDH mutation status does not affect patient outcome.

Association of Clinicopathological Features With Outcome in Chondrosarcomas of the Head and Neck

Asioli S.;Zoli M.;Guaraldi F.;Gibertoni D.;Mazzatenta D.;Foschini M. P.;
2021

Abstract

Objective: The aim of this study is to assess the association between clinical and radiological features as well as of isocitrate dehydrogenase 1 and 2 (IDH 1,2) mutations with outcome in head and neck chondrosarcomas. Study Design: Retrospective study. Setting: Tertiary referral center. Methods: Clinical, histological, and molecular data of patients with head and neck chondrosarcomas treated by surgery were collected. Results: Forty-six patients were included. The mean age at diagnosis was 56 years (range, 17-78). The tumor originated from the skull base (52.2%), facial bones (28.2%), or laryngotracheal area (19.6%). At last follow-up (median 52.5 months), 38 patients were alive, 30 of which were disease free, whereas 8 had died, 4 of disease progression and 4 of other causes. Fourteen (30.4%) had local recurrence and 2 (4.3%) had lung metastasis. All cases were negative for cytokeratin AE1/AE3, brachyury, and IDH1 at immunohistochemistry, while Sanger sequencing identified IDH1/2 point mutations, typically IDH1 R132C, in 9 (37.5%) tumors arising from the skull base. Margin infiltration on the surgical specimen negatively affected the outcome, whereas no correlation was identified with IDH mutation status. Conclusions: An adequate margin positively affects survival. IDH mutation status does not affect patient outcome.
Asioli S.; Ruengwanichayakun P.; Zoli M.; Guaraldi F.; Sollini G.; Greco P.; Facco C.; Gibertoni D.; Jimenez B.V.; Benini S.; Turri-Zanoni M.; Pasquini E.; Mazzatenta D.; Foschini M.P.; Righi A.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/785919
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