Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

Taylor, Rhiannon; Kashima, Takeshi; Ferguson, David J. P.; Szuhai, Károly; Hogendoorn, Pancras C.W.; Athanasou, Nicholas A.

doi:10.1038/modpathol.2011.141

Cited by 22 publications

(17 citation statements)

References 23 publications

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“…However, osteofibrous dysplasia always present as a palpable mass with bone deformities. Furthermore, a number of cases present with pathologic fractures and high alkali phosphatase levels (13). Additional differential diagnoses include osteoblastic sarcoma and aneurysmal bone cysts.…”

Section: Discussionmentioning

confidence: 99%

Focal fibrocartilaginous dysplasia in the thoracic vertebra: A case report

et al. 2014

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Focal fibrocartilaginous dysplasia (FFCD) is a rare, paraneoplastic disease that often presents in children and teenagers. Previous studies have reported cases of lesions in the proximal tibia and distal femur, as well as lesions in the upper extremities. The present study describes a case of FFCD on the transverse process and the rib. The imaging findings were found to correspond with the typical observations of FFCD and a biopsy from the nidus revealed pathological results similar to those of previous reports. Thus, the present study demonstrated that FFCD affects tubular bones as well as flat bones. Further studies are required to investigate the underlying mechanism and treatment of FFCD.

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Section: Discussionmentioning

confidence: 99%

Focal fibrocartilaginous dysplasia in the thoracic vertebra: A case report

et al. 2014

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“…Adamantinoma [3,[112][113][114][115][116] Progressive complexity of cytogenetic alterations including increased copy number of chromosomes 7, 8, 12, 19, and 21, KMT2D alterations and rare gene fusions…”

Section: Loss Of Multiple Tumor Suppressor Genesmentioning

confidence: 99%

Genetic characteristics and molecular diagnostics of bone tumors

Suster¹,

Suster²

2021

JCMT

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The diagnosis of primary tumors of bone relies heavily on clinicopathological and radiological correlation and is often best performed in a multidisciplinary setting. Bone tumors comprise a heterogenous category of human lesions ranging from benign to malignant neoplasms. These tumors affect a wide age range and can become problematic for diagnosis when less common entities are encountered. Traditionally the pathological diagnosis of many bone tumors has been based primarily on the evaluation of hematoxylin and eosin-stained glass slides, sometimes combined with ancillary diagnostic techniques such as immunohistochemistry, conventional cytogenetics, fluorescence in situ hybridization, and polymerase chain reaction-based assays. More recently, the advent of massively parallel sequencing-based techniques has opened new avenues for diagnostic testing in bone tumors; however, these new testing modalities are sensitive to traditional decalcification procedures that are commonly used in the routine processing of bony specimens. Herein we provide a focused review concentrating on the molecular genetic features of bone tumors with specific, recurrent genetic alterations that make them appealing targets for directed ancillary testing by conventional or molecular techniques. In addition, specimen handling with regards to decalcification procedures are discussed and the different types of testing modalities available are reviewed.

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“…Differentiated AD have been described as OFD‐like, regressive, juvenile, and intracortical AD. Distinguishing classic AD and OFD‐like AD is a controversial and critical distinction as significant controversy remains regarding prognosis and treatment of OFD‐like AD, as some consider OFD‐like AD to have no/low‐risk of metastasis, while others consider it a transitional state between benign OFD and more aggressive classic AD 9‐12 . Recent studies by Ali et al 13 show identification of KMT2D gene mutations and elevated expression of DLK1 protein in both subtypes of ADs, serving as a potential biomarker for distinguishing ADs from other lesions 13 .…”

Section: Introductionmentioning

confidence: 99%

Adamantinomatous tumors: Long‐term follow‐up study of 20 patients treated at a single institution

Schwarzkopf

Tavarez

Healey

et al. 2020

Journal of Surgical Oncology

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Background and Objectives Adamantinomas are primary, low‐grade malignant tumors of the bone that have metastatic potential to the lungs, lymph nodes, and other regions. The rarity of this disease and its nonspecific symptoms complicate diagnosis. Materials and Methods Records for 20 patients who underwent treatment for adamantinoma from 1975 to 2018 were reviewed for demographic, clinical, and pathological data, treatment details, postoperative complications, and outcomes. Results Patients presented at a median age of 22 years (1‐79 years): 14 patients had a localized primary tumor, three presented with local recurrence, and three with metastatic disease. Median tumor size was 5.7 cm (0.5‐15.5 cm). Wide excision was performed primarily in 15 cases; the remaining five patients underwent intralesional curettage. At a median follow‐up of 7.3 years, 14 patients had no evidence of disease; two patients were alive with disease, and four patients died from the disease. Local recurrence and distant metastasis occurred at a median of 11.4 years (6 month‐19 years) and 15.8 years (4 month‐23 years) after diagnosis. Conclusions Adequate histopathological diagnosis is crucial to avoid misdiagnosis of this rare tumor. Local and distant recuAbs_Para_meprrence can occur more than 20 years after the initial diagnosis. Life‐long follow‐up with clinical examination and imaging is required.

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Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

Cited by 22 publications

References 23 publications

Focal fibrocartilaginous dysplasia in the thoracic vertebra: A case report

Focal fibrocartilaginous dysplasia in the thoracic vertebra: A case report

Genetic characteristics and molecular diagnostics of bone tumors

Adamantinomatous tumors: Long‐term follow‐up study of 20 patients treated at a single institution

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