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

K R Hulme; A Mahar; R G Campbell; R Clifton-Bligh; A J Gill; C E Palme; R Gupta

doi:10.1007/s12105-022-01419-8

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

Head Neck Pathol. 2022 Sep;16(3):902-912. doi: 10.1007/s12105-022-01419-8. Epub 2022 Feb 4.

Authors

K R Hulme¹, A Mahar², R G Campbell^{3

4

5}, R Clifton-Bligh^{6

7}, A J Gill^{7

8}, C E Palme^{7

9

10}, R Gupta^{2

7}

Affiliations

¹ Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW, Australia. hulmekatherine@gmail.com.
² Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital, NSW Health Pathology, Sydney, NSW, Australia.
³ Department of Ear, Nose and Throat Surgery, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
⁴ Department of Ear, Nose and Throat Surgery, Macquarie University Hospital, Sydney, NSW, Australia.
⁵ Department of Ear, Nose and Throat Surgery, Chris O'Brien Lifehouse, Sydney, NSW, Australia.
⁶ Department of Endocrinology, Royal North Shore Hospital, Sydney, Australia.
⁷ Sydney Medical School, University of Sydney, Sydney, Australia.
⁸ Department of Pathology, Royal North Shore Hospital, NSW Health Pathology, Sydney, Australia.
⁹ Department of Head and Neck Surgery, Royal Prince Alfred Hospital, Sydney, NSW, Australia.
¹⁰ Department of Head and Neck Surgery, Chris O'Brien Lifehouse, Sydney, NSW, Australia.

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.

Keywords: ERG; Epithelial component in phosphaturic mesenchymal tumor; FGF23; Phosphaturic mesenchymal tumor; SATB2; SSTR2A; Tumor-induced osteomalacia.

MeSH terms

Fibroblast Growth Factors
Humans
Mesenchymoma*
Neoplasms, Connective Tissue*
Osteomalacia*
Paraneoplastic Syndromes*
Soft Tissue Neoplasms*

Substances

Fibroblast Growth Factors