Journal
HUMAN PATHOLOGY
Volume 80, Issue -, Pages 94-98Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.humpath.2018.02.022
Keywords
Phosphaturic mesenchymal tumor; Nonphosphaturic; FGF23; FN1-FGFR1; Tumor-induced osteomalacia (TIO)
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Phosphaturic mesenchymal tumor (PMT) is a rare, histologically distinctive neoplasm that classically presents with phosphaturia and tumor-induced osteomalacia (TIO; ie, oncogenic osteomalacia). Both the phosphaturia and the 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 (ie, the nonphosphaturic variant) and are therefore much more challenging to diagnose. Here, we report the first case of a genetically confirmed, nonphosphaturic PMT, in which the correct diagnosis was established through a combination of careful histologic evaluation, FGF23 chromogenic in situ hybridization, and fluorescence in situ hybridization testing for FN1-FGFR1. (C) 2018 Elsevier Inc. All rights reserved.
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