Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)

Other names	Bone dysplasia with medullary fibrosarcoma
	Bone dysplasia with malignant fibrous histiocytoma
	Hereditary bone dysplasia with malignant change
Note	DMS-MFH is an hereditary bone dysplasia / cancer syndrome
Inheritance	autosomal dominant; rare hereditary cancer syndrome with only four families identified worldwide; etiology unknown
	Photograph A: Lateral X-ray view of the left tibia and fibula of an 18 year old male with DMS-MFH and MFH. Note the extensive diaphyseal cortical thickening, areas of resultant medullary stenosis, endosteal irregularities, overall permeative pattern in the medullary cavity, and metaphyseal striations.

Note	radiologic evidence of bone dysplasia not evident in childhood; X-ray findings become apparent during adolescence
Phenotype and clinics	main features include: bone dysplasia (100%) cortical growth abnormalities: diaphyseal medullary stenosis with overlying endosteal cortical thickening and scalloping, metaphyseal striations, scattered sclerotic areas symmetrically affecting the long bones; bilateral mandibular radiolucent and sclerotic lesions bone infarctions pathologic fractures: subsequent poor healing or non-union progressive wasting or bowing of the lower extremities bone pain pre-senile cataracts (25%) bone malignant fibrous histiocytoma (MFH) (35%) diagnosis: X-ray skeletal findings are unique; however, there may be some radiologic overlap with other diaphyseal dysplasias including Camurati-Engelman and Kenny-Caffey diseases and radiation osteitis; no hematologic or urinary markers of disease have been identified; 201Thallium chloride radionucleotide scans may offer discrimination between areas of increased metabolic bone activity found in DMS-MFH patients and malignant change.
	Photograph B: Tibia and MFH of patient shown in Photograph A. The MFH tumor was associated with the infarcted area in the proximal tibia. Hematoxylin and eosin preparation shows removed MFH tumor from infarcted area with typical storiform arrangement of spindle cells throughout the view.
Neoplastic risk	thirteen cases of osseous MFH; thirty-five per cent of DMS-MFH patients develop MFH; the age distribution has been from the second to fifth decades; no sex predilection; in its sporadic form, MFH represents approximately 6% of all bone cancers and is the most frequently occurring adult soft-tissue sarcoma
Treatment	no known treatment for the dysplasia; the tumors are highly aggressive ­ treated with surgical ablation and the same chemotherapeutic regimens as osteosarcoma; it is believed that preoperative chemotherapy improves surgical outcome
Evolution	the disease becomes radiologically apparent only in adolescence: however, retrospectively, clinical signs and symptoms may be evident in childhood; these include unexplained bone pain and pathologic fractures; in some, crippling pain and weakness of the lower extremities ensues following the sixth decade; malignancy occurs most frequently between the second to fifth decades and is particularly aggressive; only two long-term survivors, greater than five years, are known.; pre-senile cataracts have been noted as early as in the third decade

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