51/57. Management of a huge tumour of the humerus by total replacement of the humerus: an 11-year follow-up. A massive tumour of the humerus was replaced using a total humerus replacement. The clinical and functional outcome at 11 years remains excellent. ( info) |
52/57. Collagenous fibroma (desmoplastic fibroblastoma): report of four cases and review of the literature. BACKGROUND: Collagenous fibroma (desmoplastic fibroblastoma) is poorly recognized and may be mistaken for other benign or even malignant spindle-cell tumors of soft tissue because of the small number of reported cases. DESIGN: Collagenous fibromas resected from four adult women were studied histologically and immunohistochemically. RESULTS: The tumors were well-circumscribed firm masses, measuring from 1.0 to 13.8 cm (mean, 5.5 cm) across the greatest diameter, located in the subcutaneous or deep soft tissue of the shoulder, thigh, back, and neck. Each of the tumors was characterized by a paucicellular lesion with spindle- and stellate-shaped fibroblastic cells embedded in a hypovascular, densely fibrous stroma. Mitotic figures and necrosis were not identified. One tumor contained dystrophic calcification and metaplastic bone, and another included small foci of floretlike multinucleated giant cells. Although appearing well demarcated on gross examination, one tumor focally infiltrated the surrounding skeletal muscle and adipose tissue. On immunohistochemical examination, all of the tumors were diffusely positive for vimentin. One tumor showed focal staining for alpha-smooth muscle actin, and another was partially positive for desmin, a staining profile that is typical of myofibroblasts. No tumor recurred during the follow-up periods of 67 to 108 months (mean, 93 months). CONCLUSION: Collagenous fibroma may be a distinctive fibrous soft-tissue tumor with benign biological behavior. ( info) |
| We report two cases of desmoplastic small round cell tumor (DSRCT) with novel molecular variants of the specific EWS-WT1 gene fusion. This fusion usually encodes a chimeric rna with an in-frame junction of exon 7 of EWS to exon 8 of WT1. In one variant patient, the EWS-WT1 fusion transcript contained an in-frame junction of exon 9 of EWS to exon 8 of WT1. Moreover, in this patient the tumor arose in the hand, an extremely unusual site for DSRCT. In the second patient, an in-frame junction of exon 10 of EWS to exon 8 of WT1 was present. These two cases of DSRCT show that the molecular variability in the EWS breakpoint observed in the EWS-FLI1 fusion of Ewing's sarcoma can occur in DSRCT as well. This type of heterogeneity is relevant to the interpretation of molecular diagnostic assays and could also affect the functional properties of the encoded chimeric transcription factors. ( info) |
| BACKGROUND AND PURPOSE: We present a rare case of desmoplastic fibroma of the skull. Desmoplastic fibroma is a distinctive and rare neoplasm of bone that histologically and biologically mimics desmoid soft tissue tumor. Only 6 cases have been reported in the skull and none of these was diagnosed by MRI. CLINICAL PRESENTATION: A 64 year-old woman, operated on in June 1991 for left mastectomy due to a ductal adenocarcinoma and again in October 1994 for a left frontal metastatic adenocarcinoma, was admitted in our Department of neurosurgery because a control cerebral MRI had detected a diploic lesion, isointense on T1-weighted images and hyperintense on T2, with moderate enhancement, localized in a right parietal site. Neurological examination was negative. The lesion was surgically removed and a cranioplasty was performed. Histological diagnosis was desmoplastic fibroma. Twelve months after treatment she has no neurological symptoms or signs of cerebral lesions (MRI) or systemic metastasis (total body CT). CONCLUSION: In the literature the number of desmoplastic fibroma is too small and the follow-up period too short to permit any conclusions regarding the aggressiveness of the tumor. ( info) |
55/57. Musculoaponeurotic fibromatosis of both bones of forearm. Desmoplastic fibroma is a rare primary tumour of bone. When it does occur, the sites of predilection are the long bones. The following is a case report of desmoplastic fibroma involving both bones of forearm in a 12 year old boy with a review of literature. ( info) |
56/57. Desmoplastic fibroblastoma. Previous reports of a distinctive, fibrous, soft-tissue tumor include eight patients with subcutaneous lesions and six patients with intramuscular lesions. We report a 48-year-old woman with a 2-cm cutaneous and subcutaneous nodule on the left arm with the same histologic features. An excisional biopsy showed a large, well circumscribed tumor replacing the reticular dermis and subcutaneous tissue. The tumor was relatively hypocellular and composed primarily of large, spindled, plump or stellate fibroblasts haphazardly dissecting between thickened fibrotic collagen bundles. The stroma contained a large amount of mucin which was positive with alcian blue at pH 2.5, and relatively numerous mast cells were present. The fibroblastic-like cells were positive with vimentin and factor xiiia and negative with S-100, desmin, actin and keratin. ( info) |
57/57. Childhood desmoplastic fibroblastoma (collagenous fibroma) with a 12-year follow-up. We report the first case of a childhood desmoplastic fibroblastoma (collagenous fibroma). The tumor was located in subcutaneous tissue of the left buttock in a 5-year-old boy. No recurrence has been observed after 12 years, the longest follow-up available. ( info) |