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DSS 2010-1

DSS 2010-1. Sarah E. Martin, M.D. Eyas M. Hattab, M.D. Indiana University School of Medicine 86 th Annual Meeting of the AANP June 10-13, 2010. Clinical History. 61 yo woman with a history of multiple fractures and hypophosphatemia for 6 yrs

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DSS 2010-1

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  1. DSS 2010-1 Sarah E. Martin, M.D. Eyas M. Hattab, M.D. Indiana University School of Medicine 86th Annual Meeting of the AANP June 10-13, 2010

  2. Clinical History • 61 yo woman with a history of multiple fractures and hypophosphatemia for 6 yrs • Presented with bilateral weakness and shooting pains in her legs after a fall • MRI: multi-lobulated, vividly enhancing, heterogeneous T12 mass with extension into epidural space and paraspinal musculature

  3. Diagnosis?

  4. Phosphaturicmesenchymal tumor, mixed connective tissue variant (PMTMCT)

  5. PMTMCT • Definition • Largely benign, morphologically distinct mesenchymal neoplasm almost invariably associated with oncogenic osteomalacia • Incidence • Extremely rare, ~ 150 cases described in the literature • Historical perspective • 1987: Weidner and Santa Cruz coined term • 2004: Folpe et al. fully characterized PMTMCT

  6. PMTMCT • Location • Soft tissues and bones of the extremities • Only rarely in axial skeleton (index case) • Etiology • FGF-23 overexpression: inhibits trans-epithelial phosphate transport in renal tubules, resulting in renal phosphate wasting and subsequent osteomalacia • Clinical features: • 25-77 years; female predominance • Bone pain, multiple fractures • Hypophosphatemia, hyperphosphaturia, and osteomalacia; fail vitamin D therapy • Chronic, protracted history before tumor is discovered

  7. PMTMCT: pathology • Gross: • Superficial and deep soft tissues • Well-circumscribed • Microscopic • Low cellularity, bland spindled cells • Myxochondroid/osteoid-like matrix • Dystrophic calcification, incomplete rim of ossification • HPC-like vessels, microcysts, hemorrhage • Osteoclast-like giant cells • Immunohistochemistry • FGF-23

  8. PMTMCT: pathology • Differential diagnosis: • Hemangiopericytoma • Giant cell tumor • Osteoblastoma • Osteosarcoma • Mesenchymal chondrosarcoma • Hemangioma • Keys to diagnosis: • Awareness of entity • Clinical history of osteomalacia (not universal) • Morphologic heterogeneity

  9. PMTMCT: management • Treatment • Surgical resection is curative of both tumor and osteomalacia • Prognosis • Generally excellent after complete resection • Rare malignant forms have been reported • Increased mitoses, high nuclear grade and high cellularity • Local recurrence; lung and skeletal metastases reported

  10. The end.

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