IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract - Normandie Université Access content directly
Journal Articles Human Pathology Year : 2019

IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract

Abstract

Chondrosarcomas are rare primary malignant bone tumors that involve the head and neck region in 1% to 12% of cases. Central conventional chondrosarcoma is the most common subtype and is associated with isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) gene mutations in 50% to 60% of cases. We aimed to define the frequency of IDH1 and IDH2 gene mutations in a multicenter series of 88 cases of chondrosarcoma of the head and neck, including tumors involving the base of the skull (n = 30), the facial skeleton (n = 11), and the laryngeal and tracheal cartilages (n = 47). Petrous bone and cricoid cartilage were the most frequently involved sites for chondrosarcomas of the skull base and laryngotracheal tract (43.3% and 31.9%, respectively). Overall, 64.9% of craniofacial chondrosarcomas featured IDH mutations, with a high rate for skull base tumors (85.7%) but no IDH mutations in tumors of the facial skeleton. This different mutational profile could be related to the type of ossification, the bones of the base of the skull mainly resulting from endochondral ossification, and those of the face from intramembranous ossification. Conversely, mutation was infrequent in chondrosarcomas involving the laryngeal and tracheal cartilages (11.8% of 47 cases). Evaluation of IDH mutation status may be a useful diagnostic tool for bone tumors of the skull base, which are most often assessable with only small biopsy samples. The low rate of IDH mutations observed in laryngotracheal chondrosarcomas suggests a different mode of tumorigenesis needing further exploration.
Fichier principal
Vignette du fichier
S0046817718303794.pdf (13.27 Mo) Télécharger le fichier
Origin Files produced by the author(s)

Dates and versions

hal-02316608 , version 1 (21-10-2021)

Licence

Identifiers

Cite

Matthias Tallegas, Elodie Miquelestorena-Standley, Corinne Labit-Bouvier, Cécile Badoual, Arnaud François, et al.. IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract. Human Pathology, 2019, 84, pp.183-191. ⟨10.1016/j.humpath.2018.09.015⟩. ⟨hal-02316608⟩
87 View
76 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More