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Erschienen in: Head and Neck Pathology 3/2022

04.02.2022 | Case Reports

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

verfasst von: K. R. Hulme, A. Mahar, R. G. Campbell, R. Clifton-Bligh, A. J. Gill, C. E. Palme, R. Gupta

Erschienen in: Head and Neck Pathology | Ausgabe 3/2022

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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.
Literatur
1.
Zurück zum Zitat WHO Classification of Tumours Soft Tissue and Bone Tumours (5th Ed) WHO Classification of Tumours Soft Tissue and Bone Tumours (5th Ed)
2.
Zurück zum Zitat 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.CrossRef 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.CrossRef
3.
Zurück zum Zitat Folpe AL. Phosphaturic mesenchymal tumors: a review and update. Sem Diag Path. 2019;36:260–8.CrossRef Folpe AL. Phosphaturic mesenchymal tumors: a review and update. Sem Diag Path. 2019;36:260–8.CrossRef
4.
Zurück zum Zitat 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.CrossRef 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.CrossRef
5.
Zurück zum Zitat Weidner N, Santa CD. Phosphaturic mesenchymal tumours. A polymorphous group causing osteomalacia or rickets. Cancer. 1987;59:1442–52.CrossRef Weidner N, Santa CD. Phosphaturic mesenchymal tumours. A polymorphous group causing osteomalacia or rickets. Cancer. 1987;59:1442–52.CrossRef
6.
Zurück zum Zitat 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.CrossRef 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.CrossRef
7.
Zurück zum Zitat 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.CrossRef 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.CrossRef
8.
Zurück zum Zitat 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.CrossRef 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.CrossRef
9.
Zurück zum Zitat 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.CrossRef 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.CrossRef
10.
Zurück zum Zitat 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.CrossRef 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.CrossRef
11.
Zurück zum Zitat 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.CrossRef 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.CrossRef
12.
Zurück zum Zitat 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.CrossRef 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.CrossRef
13.
Zurück zum Zitat 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.PubMedPubMedCentral 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.PubMedPubMedCentral
14.
Zurück zum Zitat 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.CrossRef 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.CrossRef
15.
Zurück zum Zitat 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.CrossRef 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.CrossRef
Metadaten
Titel
Phosphaturic Mesenchymal Tumors in the Head and Neck Demonstrate a Broad Clinical and Morphologic Spectrum
verfasst von
K. R. Hulme
A. Mahar
R. G. Campbell
R. Clifton-Bligh
A. J. Gill
C. E. Palme
R. Gupta
Publikationsdatum
04.02.2022
Verlag
Springer US
Erschienen in
Head and Neck Pathology / Ausgabe 3/2022
Elektronische ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-022-01419-8

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