Identification of a novel FN1–FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour

@article{Lee2015IdentificationOA,
  title={Identification of a novel FN1–FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour},
  author={Jen-Chieh Lee and Yung‐Ming Jeng and Sheng-Yao Su and Chen‐Tu Wu and K. -S. Tsai and Cheng-Han Lee and Chung-Yen Lin and Jodi M. Carter and Jenq-Wen Huang and Shu-Hwa Chen and Shyang-Rong Shih and Adrian Mari{\~n}o-Enr{\'i}quez and Chih-Chi Chen and Andrew L. Folpe and Yih-Leong Chang and Cher‐Wei Liang},
  journal={The Journal of Pathology},
  year={2015},
  volume={235}
}
Phosphaturic mesenchymal tumours (PMTs) are uncommon soft tissue and bone tumours that typically cause hypophosphataemia and tumour‐induced osteomalacia (TIO) through secretion of phosphatonins including fibroblast growth factor 23 (FGF23). PMT has recently been accepted by the World Health Organization as a formal tumour entity. The genetic basis and oncogenic pathways underlying its tumourigenesis remain obscure. In this study, we identified a novel FN1–FGFR1 fusion gene in three out of four… 

Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors

TLDR
Insight is provided into possible mechanisms underlying the pathogenesis of phosphaturic mesenchymal tumor and imply a central role of the FGF1-FGFR1 signaling pathway.

Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications

TLDR
The results demonstrated the utility of AMP-seq, which was compromised by decalcification and prolonged archiving, and identified FN1-FGFR1/FGF1 fusion genes in nearly half of PMT, suggesting a central role of FGFR1 pathways in the pathogenesis ofPMT.

Fibroblast growth factor receptor 1 (FGFR1) expression in phosphaturic mesenchymal tumors.

  • S. TajimaM. Fukayama
  • Medicine, Biology
    International journal of clinical and experimental pathology
  • 2015
TLDR
Analysis of phosphaturic mesenchymal tumor cases found that 36% of cases exhibited cytoplasmic and membranous staining with strong intensity, and FGF23 serum level does not correlate with FGFR1 membranOUS expression (staining withStrong intensity), leading to speculation that important factors other thanFGFR1 are involved in the tumor biology of PMTs overexpressing FGF 23.

Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis

Translocations involving FN1 have been described in a variety of neoplasms that share the presence of a cartilage matrix and may also contain a variable extent of calcification. Fusions of FN1 to

Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including MERTK, TEK, FGFR2, and FGFR1: a molecular and clinicopathologic analysis

TLDR
Novel findings are described that expand the morphologic spectrum of these neoplasms and have been labeled as calcified chondroid mesenchymal neoplasm, showing a predilection for the TMJ region and the extremities.

The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course

TLDR
The finding of FGFR1‐TACC1 fusion in a high‐grade, undifferentiated spindle cell sarcoma of soft tissue is novel and may offer a potential therapeutic target in the near future.

Immunohistochemical and molecular detection of the expression of FGF23 in phosphaturic mesenchymal tumors including the non-phosphaturic variant

TLDR
In conclusion, immunohistochemistry for FGF23 is an useful diagnostic adjunct for PMT, although its utility appears to be limited in cases without TIO.

Phosphaturic Mesenchymal Tumors: Clinicopathologic, Immunohistochemical and Molecular Analysis of 22 Cases Expanding their Morphologic and Immunophenotypic Spectrum

TLDR
The unifying immunophenotype of the neoplastic cells irrespective of the histologic pattern suggests a specific disease entity with diverse morphotypes/variants rather than different neoplasms unified by TIO.

FN1–EGF gene fusions are recurrent in calcifying aponeurotic fibroma

TLDR
The FN1–EGF fusion, which has not been observed in any other neoplasm, appears to be the main driver mutation in CAF, and the composition of the chimera suggests an autocrine/paracrine mechanism of transformation.

Clinicopathologic and molecular features of six cases of phosphaturic mesenchymal tumor

TLDR
It is suggested that IHC and molecular analysis can aid in the diagnosis of phosphaturic mesenchymal tumors, guiding excision of the tumor and resolution of osteomalacia.
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