1/18. chondrosarcoma in a patient with McCune-Albright syndrome. Report of a case.A case of McCune-Albright syndrome with acromegaly and chrondrosarcoma is reported. The potential role of chronic growth hormone overproduction in the occurrence of malignant transformation and the possible value of bisphosphonates in the treatment of bone fibrous dysplasias are discussed.- - - - - - - - - - ranking = 1keywords = sarcoma (Clic here for more details about this article) |
2/18. osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome.Sarcomas infrequently develop in osseous sites of fibrous dysplasia. We report a patient with Mazabraud's syndrome (polyostotic fibrous dysplasia and soft tissue myxomas) complicated by the development of osteogenic sarcoma in a bone affected by fibrous dysplasia. This is the third case of osteosarcoma within the small population of reported patients with Mazabraud's syndrome. There may be an increased incidence of malignant transformation in these individuals' dysplastic bones above that associated with patients suffering from fibrous dysplasia alone.- - - - - - - - - - ranking = 134.26958913613keywords = osteogenic, osteosarcoma, sarcoma (Clic here for more details about this article) |
3/18. GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis.We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was suggestive of Albright hereditary osteodystrophy (AHO); however, none of the other characteristic features of AHO were expressed. Inactivating mutations of the GNAS1 gene, which encodes the alpha-subunit of the stimulatory G protein of adenylyl cyclase, is the cause of AHO. Mutational analysis of GNAS1 using genomic dna of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients. This 4-bp deletion in GNAS1 predicts a protein reading frameshift leading to 13 incorrect amino acids followed by a premature stop codon. To investigate pathways of osteogenesis by which GNAS1 may mediate its effects, we examined the expression of the obligate osteogenic transcription factor Cbfa1/RUNX2 in lesional and uninvolved dermal fibroblasts from our patient and discovered expression of bone-specific Cbfa1 messenger rna (mRNA) in both cell types. These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.- - - - - - - - - - ranking = 69.578217164873keywords = osteogenic (Clic here for more details about this article) |
4/18. Imaging findings in Mazabraud's syndrome: seven new cases.OBJECTIVE: To present seven new cases of Mazabraud's syndrome with particular observations on the magnetic resonance imaging findings and a review of the literature. DESIGN AND patients: A multi-institutional retrospective review was performed on seven patients with confirmed Mazabraud's syndrome. The patient group was composed of six women and one man, ranging in age from 39 to 65 years, with a mean age of 53 years. RESULTS: Fibrous dysplasia was more often polyostotic ( n=6) and right-sided ( n=4). Fibrous dysplasia involved the femur in five cases. The soft tissue myxomas were multiple in four cases and were intramuscular in origin. The most commonly affected location was the thigh ( n=4). On computed tomography, myxomas were well-circumscribed, low-attenuation masses. On magnetic resonance images, the lesions were significantly low in signal intensity on T1-weighted images and high in signal intensity on T2-weighted images relative to adjacent skeletal muscle. Enhancement of the myxomas was heterogeneous with irregular, peripheral rim enhancement, and a variable degree of central enhancement depending on the abundance of solid myxoid tissue and bridging fibrous septa. CONCLUSIONS: knowledge of Mazabraud's syndrome and the imaging appearance of intramuscular myxoma is important in order to avoid unnecessary biopsies of the osseous and soft tissue lesions. The unique features of this disorder allow discrimination from soft tissue malignancies such as sarcoma.- - - - - - - - - - ranking = 0.2keywords = sarcoma (Clic here for more details about this article) |
5/18. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma.A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment.- - - - - - - - - - ranking = 318.45685985627keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
6/18. Fibrous dysplasia with cartilaginous differentiation ("fibrocartilaginous dysplasia"): a review, with an illustrative case followed for 18 years.A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma.- - - - - - - - - - ranking = 0.2keywords = sarcoma (Clic here for more details about this article) |
7/18. osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome: a case report emphasizing the cytological and cytogenetic findings.Osteosarcomatous transformation in fibrous dysplasia is unusual. The incidence is increased in patients with concomitant Mazabraud's syndrome and McCune-Albright syndrome. We report the cytological, histological, and cytogenetic findings of this rare entity arising from a mass in the right elbow of a 44-year-old African-American woman. The fine-needle aspiration (FNA) findings were diagnostic of malignancy, with markedly atypical spindle and polygonal cells admixed with osteoid. The diagnosis of osteosarcoma by FNA was subsequently further confirmed by histological evaluation of an above-elbow amputation specimen. fluorescence in situ hybridization and comparative genomic hybridization demonstrated trisomies of chromosomes 5 and 7 in the fibrous dysplasia and osteosarcoma. In addition, multiple chromosomal abnormalities were also noted in the osteosarcoma. We are unaware of any previous reports of the cytogenetic findings in the tissue of this rare condition, and argue for the value of FNA in the evaluation of such patients under selected conditions.- - - - - - - - - - ranking = 192.07411591376keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
8/18. osteosarcoma in fibrous dysplasia.Two cases are reported with osteosarcomatous transformation in fibrous dysplasia, one in the skull and one in the iliac bone. In both cases the patient was known to have longstanding polyostotic fibrous dysplasia; no radiation therapy was ever given. The incidence of sarcomatous transformation in fibrous dysplasia in the files of the netherlands Committee on Bone Tumours is 0.5%. When strict criteria for spontaneous malignant transformation are used, the actual incidence is probably lower than is suggested.- - - - - - - - - - ranking = 64.691371971254keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
9/18. osteosarcoma of the mandible arising in fibrous dysplasia. A case report.A Grade 3 chondroblastic osteosarcoma is reported in the mandible of a 37-year-old man with longstanding polyostotic fibrous dysplasia. There was also a history of multiple endocrine disturbances including hyperthyroidism, pituitary adenoma, and acromegaly. Malignant transformation of fibrous dysplasia is very rare and occurs most often when the lesion is polyostotic in distribution. The patient received preoperative radiation therapy followed immediately by marginal excision, i.e., left hemimandibulectomy. Forty-two months after initial presentation of the osteosarcoma of the mandible, he is alive with no evidence of disease.- - - - - - - - - - ranking = 128.18274394251keywords = osteosarcoma, sarcoma (Clic here for more details about this article) |
10/18. Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S.A 41-year-old man with recognized polyostotic fibrous dysplasia since late childhood developed fibroblastic osteogenic sarcoma in the left tibia. Four months after the initial diagnosis, an intramuscular myxoma was discovered in the left thigh. Twenty years previously he had been found to be heterozygous for hemoglobins JBaltimore and S. Malignant transformation in fibrous dysplasia is unusual and may be associated in some individuals with prior irradiation. Soft tissue myxomas associated with fibrous dysplasia are even rarer. To the best of the authors' knowledge the occurrence of both of these lesions in a patient with fibrous dysplasia has been reported only once before. patients with both fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are individuals with only one of these lesions. There is no well-recognized association between hemoglobinopathies and either fibrous dysplasia or bone tumors. It is therefore probable that the rare constellation of findings is in this patient a stochastic event.- - - - - - - - - - ranking = 70.578217164873keywords = osteogenic, sarcoma (Clic here for more details about this article) |
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