https://scholars.lib.ntu.edu.tw/handle/123456789/473696
標題: | From epistaxis to bone pain-report of two cases illustrating the clinicopathological spectrum of phosphaturic mesenchymal tumour with fibroblast growth factor receptor 1 immunohistochemical and cytogenetic analyses | 作者: | Mok Y. JEN-CHIEH LEE Lum J.H.Y. Petersson F. |
公開日期: | 2016 | 出版社: | Blackwell Publishing Ltd | 卷: | 68 | 期: | 6 | 起(迄)頁: | 925-930 | 來源出版物: | Histopathology | 摘要: | Aims: Phosphaturic mesenchymal tumour (PMT) is a rare, recently described neoplastic entity. It is characterized by distinct histological features, which often occur together with oncogenic osteomalacia. Recently, a novel FN1-FGFR1 gene fusion has been described in a subset of PMTs. The aim of this study is to characterise the clinicopathological features of two PMTs, with FGFR1 immunohistochemical and cytogenetic analyses. Methods and results: We present two contrasting cases of PMT, one occurring in the sinonasal region, and the other occurring in bone (proximal femur). In the former, local effects, including epistaxis and anosmia, dominated the clinical presentation, whereas the latter case presented with refractory bone pain, muscle weakness, and occult osteomalacia, the cause of which was only identified after 2 years. Both tumours showed characteristic histological features of PMT, including a monomorphic proliferation of round to ovoid cells, osteoclast-like multinucleated giant cells, and areas of 'smudgy' basophilic calcifications. Chromogenic in-situ hybridization showed fibroblast growth factor FGF-23 expression by the sinonasal tumour. By using immunohistochemistry, we also demonstrated, for the first time, FGF receptor 1 (FGFR1) protein overexpression in this tumour, for which FN1-FGFR1 gene fusion was not detected by fluorescence in-situ hybridization. Conclusions: Our findings indicate that up-regulation of FGFR1 in phosphaturic mesenchymal tumours can occur via mechanisms other than FN1-FGFR1 fusion, raising the possibility of FGFR1 overexpression being a potential common pathway with pathophysiological and therapeutic implications. ? 2016 John Wiley & Sons Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84949643860&doi=10.1111%2fhis.12872&partnerID=40&md5=2ecc69c87f7897dcd2c9ebf9a428e2d3 https://scholars.lib.ntu.edu.tw/handle/123456789/473696 |
ISSN: | 0309-0167 | DOI: | 10.1111/his.12872 | SDG/關鍵字: | 25 hydroxyvitamin D; antibiotic agent; fibroblast growth factor 23; fibroblast growth factor receptor 1; fibronectin; fibronectin 1; phosphate; unclassified drug; FGFR1 protein, human; fibroblast growth factor receptor 1; adipocyte; adult; anosmia; antibiotic resistance; Article; bone pain; cancer localization; cancer surgery; case report; cell maturation; cell proliferation; cell shape; chromogenic in situ hybridization; clinical feature; computer assisted emission tomography; connective tissue tumor; cytogenetics; disease course; disease duration; epistaxis; femur diaphysis; follow up; gene fusion; gene overexpression; genomic in situ hybridization; giant cell; histopathology; human; human tissue; hypertension; hypocalcemia; hypophosphatemia; immunohistochemistry; kidney tubule absorption; knee pain; laboratory test; male; medical history; mesenchymoma; middle aged; mitosis rate; muscle weakness; nuclear magnetic resonance imaging; oncogenic osteomalacia; open reduction; osteomalacia; osteosynthesis; palliative therapy; phosphate urine level; phosphaturic mesenchymal tumor; postoperative period; priority journal; protein expression; rare disease; recurrent disease; treatment outcome; treatment response; upregulation; vitamin blood level; bone tumor; chromosome analysis; complication; epistaxis; genetics; hypophosphatemia; nose cavity; nose tumor; pain; pathology; soft tissue tumor; Bone Neoplasms; Cytogenetic Analysis; Epistaxis; Humans; Hypophosphatemia; Immunohistochemistry; Male; Middle Aged; Nasal Cavity; Nose Neoplasms; Pain; Receptor, Fibroblast Growth Factor, Type 1; Soft Tissue Neoplasms |
顯示於: | 病理學科所 |
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