Phosphaturic Mesenchymal Tumor Without Osteomalacia: Additional Confirmation of the “Non-Phosphaturic” Variant, with Emphasis on the Roles of FGF23 Chromogenic in situ Hybridization and FN1-FGFR1 Fluorescence in situ Hybridization

Publication date: Available online 4 March 2018
Source:Human Pathology
Author(s): Kimberley N Sent-Doux, Craig Mackinnon, Jen-Chieh Lee, Andrew L Folpe, Omar Habeeb
Phosphaturic Mesenchymal Tumor (PMT) is a rare, histologically distinctive neoplasm, which classically presents with phosphaturia and tumor-induced osteomalacia (TIO) (i.e., oncogenic osteomalacia). Both the phosphaturia and TIO are due to paraneoplastic production of FGF23 (a phosphatonin) by the neoplastic cells, which are genetically characterized by rearrangements of FN1 (most often with FGFR1 – and less frequently with FGF1). However, rare cases of PMT present without phosphaturia and TIO (i.e., the "non-phosphaturic" variant) – and are therefore much more challenging to diagnose. Here, we report the first case of a genetically confirmed, non-phosphaturic PMT – in which the correct diagnosis was established through a combination of careful histological evaluation, FGF23 chromogenic in situ hybridization (CISH), and fluorescence in situ hybridization (FISH) testing for FN1-FGFR1.



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