TY - JOUR
T1 - IDH mutation status in a series of 88 head and neck chondrosarcomas
T2 - different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract
AU - Tallegas, Matthias
AU - Miquelestorena-Standley, Élodie
AU - Labit-Bouvier, Corinne
AU - Badoual, Cécile
AU - Francois, Arnaud
AU - Gomez-Brouchet, Anne
AU - Aubert, Sébastien
AU - Collin, Christine
AU - Tallet, Anne
AU - de Pinieux, Gonzague
N1 - Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - Chondrosarcoma
KW - Facial skeleton
KW - Head and neck
KW - IDH
KW - Laryngotracheal tract
KW - Molecular pathology
KW - Skull base
UR - http://www.scopus.com/inward/record.url?scp=85060026302&partnerID=8YFLogxK
U2 - 10.1016/j.humpath.2018.09.015
DO - 10.1016/j.humpath.2018.09.015
M3 - Article
C2 - 30296521
AN - SCOPUS:85060026302
SN - 0046-8177
VL - 84
SP - 183
EP - 191
JO - Human Pathology
JF - Human Pathology
ER -