Abstract
Giant Cell Tumour of Bone (GCTB) is a rare bone tumour. Locally aggressive and recurrent, it might evolve into pulmonary metastases. Our present work is aimed at investigating the involvement of the epidermal growth factor receptor (ErbB) family and its downstream effectors in the development and recurrence of GCTB. For this purpose, we used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2. The mutation status of KRAS, PI3KCA, and PTEN gene as potential oncogene involved in GCTB was also evaluated. We found a significant correlation between advanced histological stages, overexpression of EGFR/HER2, and tumour recurrence. Moreover, two mutations were found in the PIK3CA gene: a missense mutation, 1634A>C, detected for the first time in GCTB patients, without influencing the stability of the protein, and a frameshift mutation, c.1658_1659delGTinsC, causing the loss of the protein kinase domain. Altogether, these results suggest that overexpression of HER2/EGFR, Campanacci, and histological stages could be used as a novel prognostic marker for GCTB recurrence.
Highlights
Giant Cell Tumour of Bone (GCTB) is an intermediate locally aggressive primary bone tumour
We used a cohort of 32 GCTB patients and we evaluated the clinicohistological features and the expression of RANKL, EGFR, and HER2
We have shown that the type of surgery is significantly associated with recurrence; among the 21 patients treated with curettage, 13 have recurrence (p < 0:005), and 2 among 7 patients treated with wide resection have recurrence (p < 0:005)
Summary
Giant Cell Tumour of Bone (GCTB) is an intermediate locally aggressive primary bone tumour. Local recurrence after surgery is estimated to occur in 15–50% of patients, with a higher prevalence after curettage than after en bloc resection [4]. In United States, GCTB accounts for approximately 3 to 5% of all primary bone tumours and 15 to 20% of all benign bone tumours [6, 7]. A slightly higher incidence was suggested in a population-based series from the Swedish Cancer Registry; of the 4625 bone tumours diagnosed over a 53-year period, 505 (11%) were GCTB [8]. In China, GCTB represents approximately 20% of all primary bone tumours [9, 10]
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