scholarly journals Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

2020 ◽  
Vol 2020 ◽  
pp. 1-11
Author(s):  
Raja Amri ◽  
Slim Charfi ◽  
Mohamed Jemaà ◽  
Nabil Miled ◽  
Fathia Slimi ◽  
...  

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.

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Kiran Kalaiah ◽  
S. G. Thejaswi ◽  
Marula Siddappa

Giant cell tumour is a benign aggressive bone tumour. Most commonly, it is seen in epiphysiometaphyseal region around knee and distal radius. Proximal ulna is a rare location for giant cell tumour. According to reports, only 4 such cases have been reported in English literature. We report one such case of giant cell tumour of proximal ulna. Patient presented with painless, progressive swelling around right elbow since 4 months. Proximal ulna along with tumour was resected and elbow was reconstructed using nonvascularized free fibular graft. At two years of follow-up, patient is tumour-free and has functional range of movement in elbow. We are reporting the case because of its rare location and for the indigenous treatment modality of using free fibular graft for elbow reconstruction.


2018 ◽  
Vol 51 ◽  
pp. 02012
Author(s):  
Olga Shchelkova ◽  
Ekaterina Usmanova

Introduction – in the last decades, scientific research of health related quality of life (QoL) is developing fast worldwide. QoL concept pays attention to emotional experience of disease in patients, particularly to personal sense of possibility to satisfy actual needs and possibility of full social functioning in spite of disease specific limitations. The aim of the study was to reveal the basic aspects and personality factors of QoL in patients with bone tumour. Results: the study revealed that patients with bone metastases assess their health significantly worse than other patients. Besides, patients with osteosarcoma evaluate their general health higher than patients with giant cell tumour. Social functioning in patients with chondrosarcoma is higher than in patients with bone metastases and patients with giant cell tumour. Patients with chondrosarcoma have higher physical functioning and less restricted in daily activities than patients with bone metastases. Patients with bone metastases have the most intensive pain among all patients. Moreover, the study revealed personality significant influence on QoL related to bone tumour. Conclusion – patients with bone metastasis have lower QoL compared to patients with primary bone tumours. Patients with giant cell tumour have the worth quality of life among patients with primary bone tumours. Furthermore the results revealed differences in QoL parameters associated with personality characteristics in patients with bone tumour.


2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Varun Sharma Tandra ◽  
Krishna Mohan Reddy Kotha ◽  
Moorthy Gadisetti Venkata Satyanarayana ◽  
Kali Varaprasad Vadlamani ◽  
Vyjayanthi Yerravalli

Giant cell tumour (GCT) is an uncommon primary bone tumour, and its multicentric presentation is exceedingly rare. We report a case of a 45-year-old female who presented to us with GCT of left distal radius. On the skeletal survey, osteolytic lesion was noted in her right sacral ala. Biopsy confirmed both lesions as GCT. Pulmonary metastasis was also present. Resection-reconstruction arthroplasty for distal radius and thorough curettage and bone grafting of the sacral lesion were done. Multicentric GCT involving distal radius and sacrum with primary sacral involvement is not reported so far to our knowledge.


2001 ◽  
Author(s):  
S Kiraz ◽  
D Altýnok ◽  
Ý Ertenli ◽  
MA Öztürk ◽  
S Apras ◽  
...  

1979 ◽  
Vol 40 (2) ◽  
pp. 201-209 ◽  
Author(s):  
K Kasahara ◽  
T Yamamuro ◽  
A Kasahara

1998 ◽  
Vol 80-B (1) ◽  
pp. 43-47 ◽  
Author(s):  
K. A. Siebenrock ◽  
K. K. Unni ◽  
M. G. Rock

2004 ◽  
Vol 14 (1) ◽  
pp. 40-41
Author(s):  
Roop Singh ◽  
Ashwini Sharma ◽  
N. K. Magu ◽  
Rajeev Mittal

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