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10 recordsLinked to original sources
PubMed2026

Genomic Characterization of Classic Adamantinoma, Osteofibrous Dysplasia, and Osteofibrous Dysplasia-like Adamantinoma.

Classic adamantinoma, osteofibrous dysplasia (OFD), and OFD-like adamantinoma are rare bone tumors arising primarily in the tibiae. Their distinction can be challenging; data on their molecular pathogenesis remain limited. We searched our pathology files in 2004-2024 for available cases and performed targeted next-generation sequencing along with whole-genome single-nucleotide polymorphism arrays and 3-dimensional genomics/Hi-C sequencing in selected cases. Our cohort included 3 classic adamantinomas (2 females and 1 male; age, 14-56 years), 5 OFDs (3 females and 2 males; age, 9-25 years), and 2 OFD-like adamantinomas (1 female and 1 male; age, 30-41 years). Of the 10 tumors, 9 arose from the tibiae; 1 classic adamantinoma originated from the radius. The 3 classic adamantinomas harbored multiple copy number gains involving chromosome 7, 8, 10, 12, and/or 19. Focal deletion of chromosome 17, intergenic rearrangement involving FGFR1, and NRAS p.G12D were each present in 1 classic adamantinoma. Of the 5 OFDs, KMT2A p.C2441F, KMT2D p.S1040P, PHOX2B p.G213D, and RIF1 deletion were each present in 1 case; no additional copy number/single-nucleotide variants were identified. Of the 2 OFD-like adamantinomas, one case with tumor clusters visible only on cytokeratin immunostain harbored no variants, whereas another case with tumor clusters visible on light microscopy and cytokeratin/p40 immunostains showed gains of chromosome 7, 8, 19, and 20. By Hi-C, 1 classic adamantinoma harbored an approximately 9 Mb tandem duplication on chromosome 12q, 1 OFD harbored a rearrangement with breakpoints near MECOM and HOOK3, and the OFD-like adamantinoma with tumor clusters visible only on cytokeratin immunostain harbored no structural variant. In conclusion, classic adamantinomas and OFD might be genetically distinct. Classic adamantinomas harbored multiple alterations, including chromosome/arm-level copy number gains, the detection of which could aid their distinction from OFDs. Using genomics as the benchmark, OFD-like adamantinomas might be better delineated by light microscopy or p40 than by cytokeratin immunohistochemistry. These data expanded our molecular understanding of these rare bone tumors.

Humans↗
PubMed1978

Ossifying fibroma of long bone: its distinction from fibrous dysplasia and its association with adamantinoma of long bone.

Two cases of ossifying fibroma of long bones are presented. This tumor is confused with monostotic fibrous dysplasia, but can be distinguished by its intracortical location, as demonstrated radiographically, and by its histologic pattern. Distinction from fibrous dysplasia is important since ossifying fibroma of long bone is a more aggressive lesion with different therapeutic implications. It appears that ossifying fibroma and adamantinoma of long bones are somehow related, and that lesions resembling fibrous dysplasia in association with adamantinomas of long bones are actually ossifying fibromas.

Adolescent↗
PubMed1976

[A so-called adamantinoma of the right femur (author's transl)].

Report on a so-called adamantinoma of a right femur (fourth case from available publications) with remarks on the histogenesis of these tumors, which show correlating properties with malignant synovialomas. In other words, the so-called adamantinoma of long bones represents the osseous form of a malignant synovialoma, whereby an intraosseous ganglion has to be considered as a histogenetic criterion (matrix).

Diagnosis, Differential↗
PubMed1977

Tibial adamantinoma: its histogenesis from ultrastructural studies.

Only three previous reports on the ultrastructural appearance of tibial adamantinoma have been found among some 120 cases of this tumor reported in the literature. The tumor in our case is less differentiated than the cases previously reported. We believe it is of epithelial character and the possibilities of its histogenesis have been narrowed down to either mesothelial, synovial or squamous origins among the many theories proposed. Ameloblastic origin, however, cannot be ruled out.

Adult↗
PubMed1979

Adamantinoma of the appendicular skeleton.

Adamantinoma is a slowly developing tumor originating in the bones of the extremities and containing cells that resemble amelioblasts but do not produce enamel. Anamantinoma's clinically and histologically benign appearance is deceptive, for the recurrence rate is high unless surgical extirpation is complete. Thus, aggressive surgical excision of the involved area of bone should be performed at the time of diagnosis. Allograft substitution may be an effective alternative to amputation.

Adolescent↗
PubMedDate not supplied

[Histomorphological features of adamantinoma].

The histomorphological features of ameloblastoma and the literature classifications of this form are examined and a personal series of 19 cases involving the mandible and 2 involving the upper jaw is presented. Cord-like and plexiform pictures were followed by follicular, cystic, cylindromatous and stellate forms in order of frequency. Death occurred in two cases of cylindromatous ameloblastoma.

Aged↗