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Phosphaturic mesenchymal tumor, mixed connective tissue type, non‐phosphaturic variant: Report of a case and review of 32 cases from the Japanese published work

Phosphaturic mesenchymal tumor, mixed connective tissue type (PMTMCT) is a rare neoplasm that can cause tumor‐induced osteomalacia due to overproduction of a phosphaturic hormone, fibroblast growth factor 23 (FGF23). We report here a case of subcutaneous PMTMCT, non‐phosphaturic variant, in the sole. We also review 32 Japanese cases of PMTMCT reported in detail. They occurred in 16 men and 15 women (one was unknown), with ages ranging 20–73 years (median, 48). Tumors were found in soft tissue, bone and sinuses in 17, 11 and four, respectively. A history of long‐standing osteomalacia was noted in all cases except two non‐phosphaturic variant cases. Serum FGF23 level was elevated in 11 of 12 cases examined. In terms of follow‐up information, metastases were found in four patients, and two patients died of disease. In conclusion, PMTMCT is histologically a benign lesion; however, there may be rare metastatic and malignant cases. Wider recognition of the histological features of this unique neoplasm would aid its distinction from the large number of mesenchymal tumors for which it may be mistaken and should enable correct diagnosis of tumors with osteomalacia.