Phosphaturic Mesenchymal Tumor Involving the Head and Neck: A Report of Five Cases with FGFR1 Fluorescence In Situ Hybridization Analysis

Abstract

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm; however, it is the most common cause of tumor-induced osteomalacia (TIO), a paraneoplastic syndrome characterized by renal phosphate wasting and hypophosphatemia. A subset of PMTs harbours an FGFR1 translocation although this alteration has not been demonstrated in PMT involving a head and neck site. We present a series of five PMTs involving the head and neck and demonstrate the diagnostic utility of fluorescence in situ hybridization (FISH) for detecting FGFR1 translocations. Patients' age and sex, tumor location, original diagnosis, the duration of symptoms, the presence of TIO, biochemical results, and medical management were reviewed. The median age at presentation was 45 (range, 24-58 years) and TIO was present in three cases. Four tumors involved soft tissue and one involved bone. Four out of the five tumors in our series were initially misdiagnosed. Three tumors were ultimately categorized as malignant PMT (two patients developed metastatic disease). FGFR1 translocation was present in two out of four cases and remained unknown in one case. In summary, we report on five cases of PMTs arising in the head and neck and confirm utility of FGFR1 FISH in the diagnosis of a subset of PMT.

Subsets of salivary duct carcinoma defined by morphologic evidence of pleomorphic adenoma, PLAG1 or HMGA2 rearrangements, and common genetic alterations

“…The PLAG1 and HMGA2 rearrangement status of 27 tumors was previously determined and reported . Fibroblast growth factor receptor 1 ( FGFR1 ) FISH was performed as previously described …”

“…7 Fibroblast growth factor receptor 1 (FGFR1) FISH was performed as previously described. 23 Library Preparation, Sequencing, and Data Analysis DNA extraction and targeted next-generation sequencing analysis were performed as previously described. 19 Library concentrations and amplicon sizes were determined using the TapeStation System (Agilent Technologies, Santa Clara, Calif).…”

177Lu-DOTATATE PRRT in Recurrent Skull-Base Phosphaturic Mesenchymal Tumor Causing Osteomalacia: A Potential Application of PRRT Beyond Neuroendocrine Tumors

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