Osteoid osteomas with chromosome alterations involving 22q

Baruffi, Marcelo Razera; Volpon, José Batista; Neto, José Barbieri; Casartelli, Cacilda

doi:10.1016/s0165-4608(00)00327-7

Cited by 48 publications

(25 citation statements)

References 22 publications

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“…Until recently, molecular data on osteoid osteoma and osteoblastoma were scarce . However, analysis of whole genome and RNA‐sequencing of five osteoblastomas and one osteoid osteoma revealed that all tumors showed an oncogenic structural rearrangement in the AP‐1 transcription factor, either FOS on chromosome 14, or, in one case, its paralogue FOSB on chromosome 19 .…”

Section: Bone‐forming Tumorsmentioning

confidence: 99%

An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing

Baumhoer

Amary

Flanagan

2018

Genes Chromosomes & Cancer

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The last decade has seen the majority of primary bone tumor subtypes become defined by molecular genetic alteration. Examples include giant cell tumour of bone (H3F3A p.G34W), chondroblastoma (H3F3B p.K36M), mesenchymal chondrosarcoma (HEY1‐NCOA2), chondromyxoid fibroma (GRM1 rearrangements), aneurysmal bone cyst (USP6 rearrangements), osteoblastoma/osteoid osteoma (FOS/FOSB rearrangements), and synovial chondromatosis (FN1‐ACVR2A and ACVR2A‐FN1). All such alterations are mutually exclusive. Many of these have been translated into clinical service using immunohistochemistry or FISH. 60% of central chondrosarcoma is characterised by either isocitrate dehydrogenase (IDH) 1 or IDH2 mutations distinguishing them from other cartilaginous tumours. In contrast, recurrent alterations which are clinically helpful have not been found in high grade osteosarcoma. High throughput next generation sequencing has also proved valuable in identifying germ line alterations in a significant proportion of young patients with primary malignant bone tumors. These findings will play an increasing role in reaching a diagnosis and in patient management.

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Section: Bone‐forming Tumorsmentioning

confidence: 99%

An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing

Baumhoer

Amary

Flanagan

2018

Genes Chromosomes & Cancer

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“…However, there can be other variations of 17p rearrangement involving at least five different chromosomes, suggesting that the mechanism of oncogenic activation is heterogeneous. Furthermore, 17p rearrangement is absent in some ABCs with abnormal karyotype [11].…”

Section: Discussionmentioning

confidence: 99%

Intracranial, intradural aneurysmal bone cyst

2015

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“…The other alterations (-5, -11, +11) were present at low frequencies. Numerous chromosome alterations, mainly numerical, are typical of non-neoplastic proliferative processes of the bone (Baruffi et al 2001). Apparently, most of them are not associated with tissue transformation to a neoplastic stage, and are probably due to the high cell division rate.…”

Section: Discussionmentioning

confidence: 99%

“…Fresh tissue samples collected under sterile conditions were processed promptly. Chromosome preparation was performed according to a previously described protocol (Baruffi et al 2001). Chromosome studies were carried out on primary cultures only.…”

Section: Cytogenetic Analysismentioning

confidence: 99%

Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone

et al. 2002

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Cytogenetic analyses were performed on a bone giant cell reparative granuloma (GCRG) and on three bone giant cell tumors (GCT). The present GCRG case is the second to be described cytogenetically. A modal chromosome number of 46 was observed in all samples. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes 17 and 18. Among the structural anomalies observed, there was preferential involvement of chromosomes 6 and 10. Three GCT cases presented del(10)(p13) and two cases presented del(6)(q25) (1 GCRG and 1 GCT). These breakpoints mapped on 10p and 6q may harbour genes of importance in the development of bone giant cell tumors.

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Osteoid osteomas with chromosome alterations involving 22q

Cited by 48 publications

References 22 publications

An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing

An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing

Intracranial, intradural aneurysmal bone cyst

Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone

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