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

Sofia Asioli, Poosit Ruengwanichayakun, Matteo Zoli, Federica Guaraldi, Giacomo Sollini, Paolo Greco, Carla Facco, Dino Gibertoni, Brayan Vega Jiménez, Stefania Benini, Mario Turri-Zanoni, Ernesto Pasquini, Diego Mazzatenta, Maria Pia Foschini, Alberto Righi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalOtolaryngology - Head and Neck Surgery
DOIs
Publication statusE-pub ahead of print - Sep 15 2020

Keywords

  • cartilaginous tumor
  • chondrosarcoma
  • gene mutation
  • head and neck
  • isocitrate dehydrogenase

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