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

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.

Source: Human Pathology - March 4, 2018 Category: Pathology Authors: Kimberley N Sent-Doux, Craig Mackinnon, Jen-Chieh Lee, Andrew L Folpe, Omar Habeeb Tags: Case Study Source Type: research