Pituitary Unit, Center for the Diagnosis and Treatment of Hypothalamic-Pituitary Diseases, Istituto di Ricerca e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna, Bologna, Italia.
Dipartimento di Scienze Biomediche e Neuromotorie - DIBINEM, Università di Bologna, Bologna, Italia.
Otolaryngol Head Neck Surg. 2021 Apr;164(4):807-814. doi: 10.1177/0194599820957271. Epub 2020 Sep 15.
The aim of this study is to assess the association between clinical and radiological features as well as of isocitrate dehydrogenase 1 and 2 ( 1,2) mutations with outcome in head and neck chondrosarcomas.
Retrospective study.
Tertiary referral center.
Clinical, histological, and molecular data of patients with head and neck chondrosarcomas treated by surgery were collected.
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 mutation status.
An adequate margin positively affects survival. mutation status does not affect patient outcome.
本研究旨在评估临床和影像学特征以及异柠檬酸脱氢酶 1 和 2（IDH1、IDH2）突变与头颈部软骨肉瘤患者结局的相关性。
回顾性研究。
三级转诊中心。
收集了经手术治疗的头颈部软骨肉瘤患者的临床、组织学和分子数据。
共纳入 46 例患者，诊断时的平均年龄为 56 岁（范围，17-78 岁）。肿瘤起源于颅底（52.2%）、面骨（28.2%）或喉气管区域（19.6%）。末次随访时（中位随访时间 52.5 个月），38 例患者存活，其中 30 例无疾病，8 例死亡，4 例死于疾病进展，4 例死于其他原因。14 例（30.4%）发生局部复发，2 例（4.3%）发生肺转移。所有病例免疫组织化学均为角蛋白 AE1/AE3、 brachyury 和 IDH1 阴性，而 Sanger 测序鉴定出 9 例（37.5%）起源于颅底的肿瘤存在 IDH1/2 点突变，典型的 IDH1 R132C。手术标本的边缘浸润对结局有负面影响，而与突变状态无相关性。
适当的切缘可改善患者的生存情况。IDH 突变状态不影响患者的预后。
