Phosphaturic Mesenchymal Tumor of Soft Tissue of the Foot: Report of a Case with Review of the Literature

Michele Bisceglia, Carlos A. Galliani, Giulio Fraternali Orcioni, Elio Perrone, Antonio Del Giudice, Alfredo Scillitani

Research output: Contribution to journalReview article

Abstract

Phosphaturic mesenchymal tumor (PMT) is a rare neoplasm that ectopically secretes fibroblast growth factor 23, a bone cell-derived protein that regulates phosphate homeostasis. The overproduction of fibroblast growth factor 23 causes a paraneoplastic syndrome characterized by hyperphosphaturia, hypophosphatemia, hypovitaminosis D, and vitamin D refractory rickets/osteomalacia, effects that disappear with tumor removal. The PMT may occur in several anatomic regions, mainly in the limbs, usually involving both soft tissue and bone. Acral locations occur in 10% to 15% of the cases, mostly in the feet, with 95 cases reported in this anatomic region to date. We report a case of a PMT in a young adult male who presented in 2007 with the classic constellation of signs and symptoms. A small soft-tissue tumor was detected in his right heel, 3 years after exhaustively seeking for it by various imaging techniques performed at different institutions. Before the tumor was detected, attempts to manage this patient's osteomalacia with phosphate and vitamin D (both calcitriol and ergocalciferol) supplementation were unsuccessful. Following surgical resection, the patient experienced prompt correction of the phosphaturia and gradual reconstitution of his bone mineralization. The pathologic diagnosis was (benign) PMT, mixed connective tissue type. In 2019, 12 years after resection, the patient is asymptomatic, and his bone mineral homeostasis has been restored.

Original languageEnglish
JournalAdvances in Anatomic Pathology
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Foot
Neoplasms
Familial Hypophosphatemia
Osteomalacia
Bone and Bones
Vitamin D
Homeostasis
Extremities
Phosphates
Hypophosphatemia
Ergocalciferols
Paraneoplastic Syndromes
Physiologic Calcification
Rickets
Heel
Calcitriol
Connective Tissue
Signs and Symptoms
Minerals
Young Adult

Keywords

  • bone and minerals
  • fibroblast growth factor 23
  • oncogenic osteomalacia
  • phosphatonin
  • phosphaturic mesenchymal tumor
  • soft-tissue tumor

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Phosphaturic Mesenchymal Tumor of Soft Tissue of the Foot : Report of a Case with Review of the Literature. / Bisceglia, Michele; Galliani, Carlos A.; Fraternali Orcioni, Giulio; Perrone, Elio; Del Giudice, Antonio; Scillitani, Alfredo.

In: Advances in Anatomic Pathology, 01.01.2019.

Research output: Contribution to journalReview article

Bisceglia, Michele ; Galliani, Carlos A. ; Fraternali Orcioni, Giulio ; Perrone, Elio ; Del Giudice, Antonio ; Scillitani, Alfredo. / Phosphaturic Mesenchymal Tumor of Soft Tissue of the Foot : Report of a Case with Review of the Literature. In: Advances in Anatomic Pathology. 2019.
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