Gnathic giant-cell-rich conventional osteosarcoma with MDM2 and CDK4 gene amplification

2017 ◽  
Vol 70 (7) ◽  
pp. 1171-1173 ◽  
Author(s):  
Katsutoshi Hirose ◽  
Masaya Okura ◽  
Sunao Sato ◽  
Shumei Murakami ◽  
Jyun-Ichiro Ikeda ◽  
...  
Keyword(s):  
Giant Cell ◽  
Gene Amplification ◽  
Conventional Osteosarcoma ◽  
Cdk4 Gene

Common alternative gene alterations in adult malignant astrocytomas, but not in childhood primitive neuroectodermal tumors: P16ink4 homozygous deletions and CDK4 gene amplifications

1996 ◽  
Vol 84 (6) ◽  
pp. 1020-1023 ◽  
Author(s):  
Joseph Petronio ◽  
Ju He ◽  
Daniel Fults ◽  
Carolyn Pedone ◽  
C. David James ◽  
...  
Keyword(s):  
Gene Amplification ◽  
Gene Encoding ◽  
Primary Tumors ◽  
Content Type ◽  
Primitive Neuroectodermal Tumors ◽  
Malignant Astrocytomas ◽  
Neuroectodermal Tumors ◽  
Cdk4 Gene ◽  
Homozygous Deletions ◽  
Gene Alterations

✓ Alterations in P16ink4 or in the gene encoding one of its ligands, cyclin-dependent kinase 4 (CDK4), have been reported in human glioma cell lines and primary tumors but not in primitive neuroectodermal tumors (PNETs), the most common malignant brain tumor of childhood. In this study the authors have examined DNA from 20 primary PNETs in children and from 20 malignant astrocytomas to assess the frequency of P16ink4 and CDK4 gene alterations associated with each type of tumor. Southern hybridization analysis revealed homozygous P16ink4 deletions in one (5%) of 20 PNETs and in seven (35%) of 20 malignant astrocytomas. The CDK4 gene amplification was evident in two additional astrocytomas, but not in any of the PNETs. In total, nine astrocytomas (45%) exhibited homozygous P16ink4 deletion or CDK4 gene amplification, but only one PNET (5%) demonstrated either gene alteration. These results indicate that the incidence of P16ink4 and CDK4 gene alterations in these two groups of tumors is different and suggest distinct pathogenetic etiologies may be associated with each neoplasm.

scholarly journals Acute respiratory failure as initial manifestation of conventional osteosarcoma rich in giant cells: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Laura Mosquera-Salas ◽  
Nathalia Salazar-Falla ◽  
Bladimir Perez ◽  
Saveria Sangiovanni ◽  
Luz F. Sua ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Giant Cell ◽  
Mediastinal Mass ◽  
Soft Tissues ◽  
Pulseless Electrical Activity ◽  
Sudden Increase ◽  
Initial Manifestation ◽  
Histological Variant ◽  
Conventional Osteosarcoma

Abstract Background Osteosarcoma is a malignant tumor of the bone. The giant cell-rich osteosarcoma (GCRO) is a rare histological variant of the conventional osteosarcoma, accounting for 3% of all osteosarcomas. It has a variable clinical presentation, ranging from asymptomatic to multiple pathological fractures, mainly involving long bones, and less frequently the axial skeleton and soft tissues. Case presentation We present the case of a 25-year-old Hispanic woman, previously healthy, with a 1-month history of dyspnea on exertion, intermittent dry cough, hyporexia, and intermittent unquantified fever. She presented to the emergency department with a sudden increase in dyspnea during which she quickly entered ventilatory failure and cardiorespiratory arrest with pulseless electrical activity. Resuscitation maneuvers and orotracheal intubation were initiated, but effective ventilation was not achieved despite intubation and she was transferred to the intensive care unit of our institution. The chest radiograph showed a mediastinal mass that occluded and displaced the airway. The chest tomography showed a large mediastinal mass that involved the pleura and vertebral bodies. A thoracoscopic biopsy was performed that documented a conventional giant cell-rich osteosarcoma. The patient was considered to be inoperable due to the size and extent of the tumor and subsequently died. Conclusions The giant cell-rich osteosarcoma is a very rare histological variant of conventional osteosarcoma. Few cases of this type of osteosarcoma originating from the spine have been reported in the literature, and to our knowledge none of the reported cases included invasion to the chest cavity with airway compression and fatal acute respiratory failure that was present our case. Radiological and histological features of the GCRO must be taken into account to make a prompt diagnosis.

scholarly journals Central giant cell lesion of the jaws: study of CCND1 gene amplification and p16INK4a protein levels

2013 ◽  
Vol 44 (5) ◽  
pp. 527-534 ◽  
Author(s):  
Renato Luiz Maia Nogueira ◽  
Mário Henrique Girão Faria ◽  
Rafael Lima Verde Osterne ◽  
Roberta Barroso Cavalcante ◽  
Ronaldo Albuquerque Ribeiro ◽  
...  
Keyword(s):  
Giant Cell ◽  
Gene Amplification ◽  
Ccnd1 Gene ◽  
Protein Levels ◽  
Giant Cell Lesion ◽  
Central Giant Cell Lesion

MDM2/CDK4 gene amplification in large/deep-seated ‘lipomas’: incidence, predictors and clinical significance

Pathology ◽  
2016 ◽  
Vol 48 (3) ◽  
pp. 203-209 ◽  
Author(s):  
Daniel D. Wong ◽  
Irene C. Low ◽  
Joanne Peverall ◽  
Peter D. Robbins ◽  
Dominic V. Spagnolo ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Gene Amplification ◽  
Cdk4 Gene
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