Bardakhchyan Samvel, Kager Leo, Danielyan Samvel, Avagyan Armen, Karamyan Nerses, Vardevanyan Hovhannes, Mkhitaryan Sergey, Papyan Ruzanna, Zohrabyan Davit, Safaryan Liana, Sargsyan Lilit, Harutyunyan Lilit, Hakobyan Lusine, Iskanyan Samvel, Tamamyan Gevorg
Department of Oncology, Yerevan State Medical University, Yerevan, Armenia.
Yerevan State Medical University, Muratsan Hospital Complex, Clinic of Chemotherapy, Yerevan, Armenia.
Ital J Pediatr. 2017 Mar 29;43(1):32. doi: 10.1186/s13052-017-0353-0.
Giant cell tumor of bone (GCT) is a rare primary bone tumor, which can metastasize and undergo malignant transformation. The standard treatment of GCT is surgery. In patients with unresectable or metastatic disease, additional therapeutic options are available. These include blocking of the receptor activator of NF-kappa B ligand (RANKL) signaling pathway, which plays a role in the pathogenesis of GCT of bone, via the anti-RANKL monoclonal antibody denosumab.
Herein we report on a female teenager who presented in a very poor clinical condition (cachexia, diplopia, strabismus, dysphonia with palsy of cranial nerves V, VI, VIII, IX, X, XI and XII) due to progressive disease, after incomplete resection and adjuvant radiotherapy, of a GCT which affected the cervical spine (C1 and C2) as well as the skull base; and who had an impressive clinical response to denosumab therapy. To the best of our knowledge, this is the youngest patient ever reported with a skull base tumor treated with denosumab.
In situations when surgery can be postponed and local aggressiveness of the tumor does not urge for acute surgical intervention, upfront use of denosumab in order to reduce the tumor size might be considered. Principally, the goal of denosumab therapy is to reduce tumor size as much as possible, with the ultimate goal to make local surgery (or as in our case re-surgery) amenable. However, improvement in quality of life, as demonstrated in our patient, is also an important aspect of such targeted therapies.
骨巨细胞瘤（GCT）是一种罕见的原发性骨肿瘤，可发生转移和恶变。GCT的标准治疗方法是手术。对于无法切除或转移性疾病患者，还有其他治疗选择。这些包括通过抗核因子κB受体活化因子配体（RANKL）单克隆抗体地诺单抗阻断RANKL信号通路，该通路在骨巨细胞瘤的发病机制中起作用。
在此，我们报告一名女性青少年，因颈椎（C1和C2）及颅底的骨巨细胞瘤在不完全切除和辅助放疗后病情进展，临床状况极差（恶病质、复视、斜视、发音困难伴第V、VI、VIII、IX、X、XI和XII对脑神经麻痹）；并且她对地诺单抗治疗有显著的临床反应。据我们所知，这是报道中接受地诺单抗治疗的最年轻的颅底肿瘤患者。
在手术可推迟且肿瘤局部侵袭性不迫切需要紧急手术干预的情况下，可以考虑先使用地诺单抗以缩小肿瘤大小。原则上，地诺单抗治疗的目标是尽可能缩小肿瘤大小，最终目标是使局部手术（或如我们病例中的再次手术）可行。然而，正如我们的患者所示，生活质量的改善也是这种靶向治疗的一个重要方面。
