Malignant Sarcomatous Transformation of Fibrous Dysplasia

Mardekian, Stacey K.; Tuluc, Madalina

doi:10.1007/s12105-014-0567-z

Cited by 18 publications

(17 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hence, interpretation of genetic alterations must always be performed in the context of morphology and imaging. 26,27 Our findings support prior observations that in the appropriate context, the detection of a GNAS mutation in a primary bone tumor is supportive of a diagnosis of fibrous dysplasia, and GNAS mutations rarely, if ever, occur in parosteal osteosarcoma. The reason for the findings by Carter and colleagues, however, remain elusive.…”

Section: Discussionsupporting

confidence: 87%

GNAS mutations are not detected in parosteal and low-grade central osteosarcomas

et al. 2015

View full text Add to dashboard Cite

Parosteal osteosarcoma, low-grade central osteosarcoma, and fibrous dysplasia share similar histological features that may pose a diagnostic challenge. The detection of GNAS mutations in primary bone tumors has been useful in clinical practice for diagnosing fibrous dysplasia. However, the recent report of GNAS mutations being detected in a significant proportion of parosteal osteosarcoma challenges the specificity of this mutation. As the number of cases reported in this study was small we set out to determine if these results could be reproduced. We studied 97 formalin-fixed paraffin-embedded low-grade osteosarcomas from 90 patients including 62 parosteal osteosarcomas, of which MDM2 amplification was detected in 79%, 11 periosteal osteosarcomas and 24 low-grade central osteosarcoma samples. The mutational status of GNAS was analyzed in codons p.R201, p.Q227, and other less common GNAS alterations by bidirectional Sanger sequencing and/or next generation sequencing using the Life Technologies Ion Torrent platform. GNAS mutations were not detected in any of the low-grade osteosarcomas from which informative DNA was extracted. Our findings therefore support prior observations that GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas. Parosteal and low-grade central osteosarcomas are rare low-grade primary malignant bone tumors comprising o4% of all osteosarcomas. In contrast, fibrous dysplasia is one of the most common benign fibro-osseous tumor-like lesions in medullary bone. Morphologically, there is considerable overlap between these lesions all showing variably shaped bony trabeculae surrounded by spindled-shaped cells, with little to no cytologic atypia. 1 In the majority of cases, imaging studies can easily differentiate parosteal osteosarcoma from fibrous dysplasia and central low-grade osteosarcoma: parosteal osteosarcoma is a surface tumor that may secondarily invade bone marrow, and low-grade central osteosarcoma and fibrous dysplasia are centrally based. Occasionally, fibrous dysplasia arises eccentrically in the marrow space, presenting as an exophytic surfacebased lesion. Such lesions are referred to as fibrous dysplasia protuberans. 2 Hence, distinguishing fibrous dysplasia protuberans from parosteal osteosarcoma can be challenging and differentiating between lowgrade central osteosarcoma and fibrous dysplasia can also be difficult.Parosteal osteosarcoma typically harbors one or more supernumerary ring chromosomes with amplification of the MDM2, SAS, and CDK4 genes. 3,4 MDM2 amplification is reported to occur in 93% (14/15) of low-grade central osteosarcomas 3,5 and in 79% (68/86) of parosteal osteosarcomas. 5,6 Dedifferentiated parosteal osteosarcoma is a distinct tumor variant in which a (high-grade) sarcoma coexists with a conventional parosteal osteosarcoma. Dedifferentiation affects 16-43% of parosteal osteosarcomas

show abstract

Section: Discussionsupporting

confidence: 87%

GNAS mutations are not detected in parosteal and low-grade central osteosarcomas

et al. 2015

View full text Add to dashboard Cite

show abstract

“…A malignant transformation of FD is rare, which occurs less than 1% of cases [19, 20]. In present study, the clinicians performed biopsy or surgery for 13 of the patients.…”

Section: Discussionmentioning

confidence: 92%

The value of 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia

Zhang

et al. 2017

BMC Med Imaging

View full text Add to dashboard Cite

BackgroundFibrous dysplasia (FD) is a rare benign bone disorder in which the normal bone is replaced by immature fibro-osseous tissue. However, some case reports have reported that FD showed significantly increased 99mTc-methylene diphosphonate (99mTc-MDP) uptake on whole-body bone scintigraphy (WBS), which may mimic bone metastasis or skeletal involvement of the patients with known cancer. Thus, the purpose of present study is to observe the reliable characteristics and usefulness of single photon emission computed tomography/computed tomography (SPECT/CT) for the diagnosis of FD.MethodsThis was a retrospective review of 21 patients with FD (14 males and 7 females, mean age 51.2 ± 12.5 years) who were referred to have WBS to determine whether there was any osseous metastasis. WBS and SPECT/CT images were independently interpreted by two experienced nuclear medicine physician together with a diagnostic radiologist. In cases of discrepancy, consensus was obtained by a joint reading. The final diagnosis was based on biopsy proof and radiologic follow-up over at least 1 year.ResultsThe lesions of FD were most frequently found in craniofacial region (15/21). Eighteen of the 21 (85.7%) cases showed moderate and high metabolism on WBS (compared to sternum). On CT imaging, GGO and expansion were the most common finding, were noted in 90.5% and 85.7% of the patients. Lytic lesions were present in 61.9% of the patients, and sclerosis was present in 38.1% of the patients. Cortical disruption was not seen in any patient.ConclusionsFD has certain characteristic appearance on SPECT/CT. It should be enrolled in the differential diagnoses when lesions show elevated 99mTc-MDP uptake on WBS. For SPECT/CT, the CT features of GGO and expansion in the areas of abnormal radiotracer uptake are helpful for the diagnosis of FD.

show abstract

“…After applying the inclusion and exclusion criteria, 14 studies were included for review. The manual search added five more studies, resulting in 19 articles included in this systematic review reporting the malignant transformation of 27 patients with FOLs . Only cases that fulfilled all the inclusion criteria within case series studies were included in this review.…”

Section: Resultsmentioning

confidence: 99%

“…Concerning the outcome, five studies did not report any follow‐up information and one study only reported that the patient did not respond to therapy, yet the time of follow‐up was not mentioned . Among the other reports (n = 21), eight patients remained alive during the follow‐up, while 13 died because of the tumor.…”

Section: Resultsmentioning

confidence: 99%

Malignant transformation of craniomaxillofacial fibro‐osseous lesions: A systematic review

Wagner

Carlos²,

Romañach

et al. 2019

J Oral Pathology Medicine

View full text Add to dashboard Cite

The purpose of this study was to perform a systematic review of the literature concerning all documented cases of malignant transformation of craniomaxillofacial fibro‐osseous lesions (FOLs). Three electronic databases were searched. Data were evaluated descriptively. Kaplan‐Meier survival curves were constructed and compared using the log‐rank test. A critical appraisal of included articles was performed through the Joanna Briggs Institute tool. A total of 19 studies including 27 patients were selected for data extraction. Twenty‐six cases were initially diagnosed as fibrous dysplasia and one as ossifying fibroma. The mean age at the time of malignant transformation was 38.11 years, and the average time from initial diagnosis to malignant transformation was 18.2 years. The male:female ratio was 1:1.2, and the maxilla:mandible ratio was 1.5:1. The histological type of the malignant tumor was predominantly osteosarcoma. Follow‐up was available for 21 patients. The 3‐year overall survival rate was 51%. Mandible tumors and diagnoses other than osteosarcoma tended to have poor survival rates, but no significant difference was identified. We concluded that between all FOLs, only fibrous dysplasia seems to have a considerable increased risk of malignant transformation. Thus, a regular and long follow‐up period is advised.

show abstract

Malignant Sarcomatous Transformation of Fibrous Dysplasia

Abstract: A case of osteosarcoma developing from fibrous dysplasia of the sphenoid bone in a 59-year-old female will be discussed. The characteristic radiologic and histologic features of the entity will be described.

Cited by 18 publications

References 8 publications

GNAS mutations are not detected in parosteal and low-grade central osteosarcomas

GNAS mutations are not detected in parosteal and low-grade central osteosarcomas

The value of 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia

Malignant transformation of craniomaxillofacial fibro‐osseous lesions: A systematic review

Contact Info

Product

Resources

About