Denosumab treatment for progressive skull base giant cell tumor of bone in a 14 year old female – a case report and literature review

Abstract

BackgroundGiant 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.Case PresentationHerein 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.ConclusionIn 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s13052-017-0353-0) contains supplementary material, which is available to authorized users.

Denosumab for effective tumor size reduction in patients with giant cell tumors of the bone: a systematic review and meta-analysis

“…An important point to note is that nine cases of a single transformation of GCBT during treatment with denosumab, without prior radiation treatment, have been reported in the literature [92]. Inhibition of RANKL has been reported to increase the risk of new malignant diseases (e.g., osteosarcoma) because of immunosuppression [65,94].…”

Sphenoid Sinus Giant Cell Tumor: A Case Report and Literature Review

“…Even with advances in endoscopic surgical techniques, complete resection of skull base tumors are often not possible without functional compromise [4]. Additionally, these tumors have high recurrence rates with incomplete surgical excision [5]. Recent utilization of the NF-kappa B ligand (RANKL) inhibitor denosumab shows utility in decreasing tumor burden and preventing tumor recurrence.…”

Left orbital roof giant cell tumor of bone: A case report

“…[ 4 ] Giant cell tumor of bone originating from the connective tissue within the bone marrow is benign but locally aggressive with high recurrent rate after treatment. [ 1 3 8 ] Giant cell tumor of bone accounts for about 3% to 7% of primary bone tumors. In all, 90% of the cases involve the epiphysis of long bones and less than 2% involve the skull.…”

“…In all, 90% of the cases involve the epiphysis of long bones and less than 2% involve the skull. [ 1 6 8 ] Giant cell tumors of the skull occur most frequently in the sphenoid and temporal bones, and very rarely in the ethmoid, frontal, parietal, and occipital bones. [ 1 6 8 ] The first case of giant cell tumor of the orbit reported in the English literature was published in 1993.…”

“…[ 1 6 8 ] Giant cell tumors of the skull occur most frequently in the sphenoid and temporal bones, and very rarely in the ethmoid, frontal, parietal, and occipital bones. [ 1 6 8 ] The first case of giant cell tumor of the orbit reported in the English literature was published in 1993. [ 12 ] We would like to share a case of giant cell tumor of bone arising from the left orbital roof with involving ethmoid sinus, which was diagnosed to be a meningioma before surgery.…”