DEFINITION AND PATHOGENESIS

  • (Desmoid tumor of bone, aggressive fibromatosis of bone)
  • The bony counterpart of the soft tissue desmoid tumor (aggressive fibromatosis)
  • Rare benign aggressive lesion occuring in metaphyseal location and the mandible

IMPORTANCE

  • May originate from myofibroblasts, differentiating it from a low grade fibrosarcoma may be difficult

CLINICAL FEATURES

  • Usually presents in the first 3 decades of life; 90% between 15-40 years of age
  • 90% present with pain and the symptoms have been present on the average for 7 months
  • 15% present with pathologic fx
  • Incidence in Gardner’s syndrome (± hereditary etiology)
  • May regress after menopause (± hormonal etiology)
  • TMJ dysfunction in a child with mandible location reported
  • Unusual location

RADIOLOGIC FEATURES

  • >50% in femur, tibia, humerus, radius, 26% in mandible, 14% in pelvis
  • Average size is 7-10cm
  • Very similar to NOF except that they are central within the metaphysis
  • Can become more aggressive appearing with soft tissue masses (50%), cortical erosions, and pathological fx
  • Osteolytic with trabeculated, soap-bubble pattern
  • ± sequestrum (thick, course trabeculae within the lesion)
    • Other lesions associated with a bony sequestrum
      • Osteomyelitis
      • Skeletal tuberculosis
      • Radiation necrosis
      • Eosinophilic granuloma
      • Metastatic carcinoma
      • Primary lymphoma of bone
      • Fibrosarcoma of bone
  • No periosteal reaction unless there is a fx
  • Rarely will be parosteal (more aggressive)
  • Unusual location: rib
  • Bone scan shows increased central activity within the lesion
  • CT: more accurate assessment of extent of bone destruction including cortical breakthrough and articular invasion
  • MRI: demonstrates intramedullary tumor growth and soft tissue extension best
    • T1-weighted images: nonspecific low signal intensity
    • T2-weighted images: intermediate to high signal intensity with areas of low signal intensity, inhomogeneous enhancement
    • Intermediate to low signal intensity foci on T2-weighted images do not correspond to calcifications

GROSS PATHOLOGY

  • Lobulated and firm lesion within the intramedullary canal, rarely juxtacortical
  • (If there is a soft tissue mass, rule out fibrosarcoma or MFH)

HISTOLOGIC FEATURES

  • Identical to fibromatosis of soft parts
  • Hypocellular, well-formed collagenous matrix, spindled fibroblasts with monotonous, uniform nuclei
  • No trabeculae which helps to differentiate this from FD
  • Cellularity within a single specimen fairly constant
  • Extensive cartilaginous metaplasia reported
  • EM: "dense bodies" (as seen in fibroblastic and myofibroblastic cells), RER with dilated cisternae and other organelles for production of collagen, cell-to-cell connections ("microtendons")

DIFFERENTIAL CLINICOPATHOLOGIC DIAGNOSIS

  • If there is increased cellularity, increased pleomorphism, decreased collagen, soft tissue mass, think low-grade fibrosarcoma or MFH
  • Juxtacortical or fibromatosis (desmoid) of soft parts
  • Fibrous dysplasia
  • Chondromyxoid fibroma
  • GCT
  • NOF
  • Low-grade osteosarcoma (fibrous dysplasia-like variant)
  • Metastasis (thyroid or renal carcinoma)

DISEASE COURSE AND TREATMENT

  • Tx is wide surgical margins due to high rate of recurrence with intralesional resection (40%), although reports of aggressive curettage with excellent 3-5 yr follow-up
  • Slowly growing and locally aggressive without development of metastases
  • ± chemotx, XRT have been used in the past
  • Amputation seldomly indicated (lesion never metastasizes)
  • Extension to the neck, mediastinum, or abdomen may involve vital structures threatening survival
  • Malignant transformation reported

SPECIAL CONSIDERATION

  • Infantile Desmoplastic Fibroma

    • Involvement of the maxilla reported

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