“…Yet, no case of COD sarcomatous transformation was identified in this review. We believe, however, that the radiographic aspect in the study by Pack et al is more compatible with a florid COD rather than a FD as described by the authors. Cases of concomitant diagnosis of COD and malignant tumors can be found in the literature, including one case from our institution .…”
Section: Discussionsupporting
confidence: 53%
“…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%
“…Since 2007, a simple and reliable method of identifying the GNAS1 mutation in paraffin‐embedded tissue is available . However, several cases described after that time did not evaluate the GNAS mutation in the initial sample nor in the malignant tumor . We believe that this information is of paramount importance and should be evaluated in further reports.…”
Section: Discussionmentioning
confidence: 98%
“…FD presents invariably in early childhood or rarely early in adolescence. Therefore, reports in which the initial diagnosis of FD was made at a more advanced age can raise suspicion of a misdiagnosis. The most important pitfall is related to a misdiagnosis due to similar clinical, radiological, and histological features between FD and other lesions.…”
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.
“…Yet, no case of COD sarcomatous transformation was identified in this review. We believe, however, that the radiographic aspect in the study by Pack et al is more compatible with a florid COD rather than a FD as described by the authors. Cases of concomitant diagnosis of COD and malignant tumors can be found in the literature, including one case from our institution .…”
Section: Discussionsupporting
confidence: 53%
“…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%
“…Since 2007, a simple and reliable method of identifying the GNAS1 mutation in paraffin‐embedded tissue is available . However, several cases described after that time did not evaluate the GNAS mutation in the initial sample nor in the malignant tumor . We believe that this information is of paramount importance and should be evaluated in further reports.…”
Section: Discussionmentioning
confidence: 98%
“…FD presents invariably in early childhood or rarely early in adolescence. Therefore, reports in which the initial diagnosis of FD was made at a more advanced age can raise suspicion of a misdiagnosis. The most important pitfall is related to a misdiagnosis due to similar clinical, radiological, and histological features between FD and other lesions.…”
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.
“…Malignant degeneration of FD is rare 602G>A;pR201H). (82)(83)(84)(85)(86)(87)(88)(89)(90)(91). However, reports of malignancy arising from FD suggest the affected body region should be under long-term monitoring (90,91).…”
Background: Certain constitutive chromosomal abnormalities of the human X chromosome are relatively common in conspicuous neuropsychiatric findings. Although tumors or tumor-like lesions are occasionally reported in diseases of the X chromosome, they are numerically negligible, for example, in aneuploidy such as the triple X syndrome (TXS). Case Report: A 16-year-old female patient with a known TXS and premutation stage of fragile X syndrome was referred by her dentist for diagnosis and treatment of unilateral cheek swelling. The examination of the psychologically conspicuous patient revealed a unilateral mandibular tumor with dysesthesia of the mental nerve. Surgical removal of soft, crumbly spongiosa over the nerve canal resulted in sufficient pressure release of the constricted nerve and restoration of epicritic sensitivity. Imaging findings and histological and molecular genetic examination revealed monostotic craniofacial fibrous dysplasia. Conclusion: Although the data in the literature do not give reason to suppose an accumulation of neoplasms in TXS, a numb chin syndrome should be a reason for detailed diagnostics. Careful diagnosis allows for customized therapy. This is the first report on the coincidence of TXS, fragile X syndrome, and fibrous dysplasia in a single individual.
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