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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