Skip to main content

Advertisement

SpringerLink
Log in

Phosphaturic Mesenchymal Tumors in the Head and Neck Demonstrate a Broad Clinical and Morphologic Spectrum

  • Case Reports
  • Published:
Head and Neck Pathology Aims and scope Submit manuscript

Abstract

Phosphaturic mesenchymal tumour (PMT) is a rare tumour that occurs in bone or soft tissue and is associated with production of fibroblast growth factor 23 (FGF23) leading to tumor-induced osteomalacia. We report three cases of PMT involving the head and neck that highlight the broad spectrum of clinical and histologic features of PMT. One of these lesions from the hard palate demonstrated an admixture of epithelial and mesenchymal elements, a feature that can pose a diagnostic challenge. The diagnostic utility of immunohistochemistry including FGF23, somatostatin receptor 2A, SATB2, ERG and CD56 is discussed. The biochemical pathway in the development of PMT associated tumor induced osteomalacia and its role in investigations and management of PMT is also described.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5

Similar content being viewed by others

Data Availability

Data and material used for the manuscript can be made available on request.

Code Availability

Not applicable.

References

  1. WHO Classification of Tumours Soft Tissue and Bone Tumours (5th Ed)

  2. Houang M, Clarkson A, Sioson L, et al. Phosphaturic mesenchymal tumors show positive staining for somatostatin receptor 2A (SSTR2A). Hum Pathol. 2013;44(12):2711–8.

    Article  CAS  Google Scholar 

  3. Folpe AL. Phosphaturic mesenchymal tumors: a review and update. Sem Diag Path. 2019;36:260–8.

    Article  Google Scholar 

  4. Wu H, Bui MM, Zhou L, Li D, Zhang H, Zhong D. Phosphaturic mesenchymal tumor with an admixture of epithelial and mesenchymal elements in the jaws: clinicopathological and immunohistochemical analysis of 22 cases with literature review. Mod Pathol. 2019;32:189–204.

    Article  CAS  Google Scholar 

  5. Weidner N, Santa CD. Phosphaturic mesenchymal tumours. A polymorphous group causing osteomalacia or rickets. Cancer. 1987;59:1442–52.

    Article  CAS  Google Scholar 

  6. Folpe AL, Fanburg-Smith JC, Billings SD, et al. Most osteomalacia-associated mesenchymal tumours are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature. Am J Surg Pathol. 2004;28(1):1–30.

    Article  Google Scholar 

  7. Bär L, Stournaras C, Lang F, Föller M. Regulation of fibroblast growth factor 23 (FGF23) in health and disease. FEBS Lett. 2019;593:1879–900.

    Article  Google Scholar 

  8. Lee JC, Su SY, Changou CA, et al. Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumours. Mod Pathol. 2016;29:1335–46.

    Article  CAS  Google Scholar 

  9. Lee JC, Jeng YM, Su SY, et al. Identification of a novel FN1-FGFr1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour. J Pathol. 2015;235:539–45.

    Article  CAS  Google Scholar 

  10. Uchihashi K, Nishijima-Matsunobu A, Matsuyama A, et al. Phosphaturic mesenchymal tumour, nonphosphaturic variant, causing fatal pulmonary metastasis. Hum Pathol. 2013;44(11):2614–8.

    Article  Google Scholar 

  11. Sent-Doux KN, Mackinnon C, Lee JC, Folpe AL, Habeeb O. Phosphaturic mesenchymal tumour without osteomalacia; additional confirmation of the “nonphosphaturic” variant, with emphasis on the roles of FGF23 chromogenic in situ hydridization and FN1-FGFR1 fluorescence in situ hydridization. Hum Pathol. 2018;80:94–8.

    Article  CAS  Google Scholar 

  12. Agaimy A, Michal M, Chiosea S, et al. Phosphaturic mesenchymal tumours: clinicopathologic, immunohistochemical and molecular analysis of 22 cases expanding their morphologic and immunophenotypic spectrum. Am J Surg Pathol. 2017;41(10):1371–80.

    Article  Google Scholar 

  13. Tajima S, Fukayama M. CD56 may be a more useful immunohistochemical marker than somatostatin receptor 2A for the diagnosis of phosphaturic mesenchymal tumors. Int J Clin Exp Pathol. 2015;8(7):8159–64.

    PubMed  PubMed Central  Google Scholar 

  14. Wasserman JK, Purgina B, Lai CK, et al. Phosphaturic mesenchymal tumour involving the head and neck: a report of five cases with FGFR1 fluorescence in situ hybridization analysis. Head Neck Pathol. 2016;10(3):279–85.

    Article  Google Scholar 

  15. Bergwitz C, Collins MT, Kamath RS, Rosenberg AE. Case records of the Massachusetts General Hospital. Case 33–2011. A 56-year-old-man with hypophosphataemia. N Engl J Med. 2011;365:1625–35.

    Article  CAS  Google Scholar 

Download references

Funding

The authors did not receive support from any organization for the submitted work. The authors have no relevant financial or non-financial interests to disclose.

Author information

Authors and Affiliations

  1. Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW, Australia

    K. R. Hulme, A. Mahar & R. Gupta

  2. Department of Ear, Nose and Throat Surgery, Royal Prince Alfred Hospital, Sydney, NSW, Australia

    R. G. Campbell

  3. Department of Ear, Nose and Throat Surgery, Macquarie University Hospital, Sydney, NSW, Australia

    R. G. Campbell

  4. Department of Ear, Nose and Throat Surgery, Chris O’Brien Lifehouse, Sydney, NSW, Australia

    R. G. Campbell

  5. Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia

    R. Clifton-Bligh

  6. Sydney Medical School, University of Sydney, Sydney, Australia

    R. Clifton-Bligh, A. J. Gill, C. E. Palme & R. Gupta

  7. Department of Pathology, Royal North Shore Hospital, NSW Health Pathology, Sydney, Australia

    A. J. Gill

  8. Department of Head and Neck Surgery, Royal Prince Alfred Hospital, Sydney, NSW, Australia

    C. E. Palme

  9. Department of Head and Neck Surgery, Chris O’Brien Lifehouse, Sydney, NSW, Australia

    C. E. Palme

Authors
  1. K. R. Hulme
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Mahar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. G. Campbell
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. Clifton-Bligh
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. J. Gill
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. E. Palme
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. R. Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to K. R. Hulme.

Ethics declarations

Ethical Approval

In accordance with the requirements of the Sydney Local Health District Ethics Review Committee the individual cases gave written informed consent for inclusion in this publication and no further ethical approval is required.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hulme, K.R., Mahar, A., Campbell, R.G. et al. Phosphaturic Mesenchymal Tumors in the Head and Neck Demonstrate a Broad Clinical and Morphologic Spectrum. Head and Neck Pathol 16, 902–912 (2022). https://doi.org/10.1007/s12105-022-01419-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12105-022-01419-8

Keywords

Search

Navigation