Periosteal chondrosarcoma: a histopathological and molecular analysis of a rare chondrosarcoma subtype

Cleven, Arjen H.G.; Zwartkruis, Evita; Hogendoorn, Pancras C.W.; Kroon, Herman M.; Bruijn, Inge H. Briaire-de; Bovée, Judith V.M.G.

doi:10.1111/his.12666

Cited by 29 publications

(29 citation statements)

References 48 publications

(73 reference statements)

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“…Loss of p16 protein expression was found to correlate with histological grade of central chondrosarcomas [64]. In dedifferentiated chondrosarcoma, mesenchymal, clear cell chondrosarcoma and periosteal chondrosarcoma, p16 aberrations were found to be common (85,70,95 and 50% of cases, respectively) [14,17]. One study [62 & ] reported that the pRb pathway is affected in 96% of the high-grade central chondrosarcomas, either by a decrease in the amount of CDKN2A/p16 (48%), an increase in the amount of CDK4 (55%) or expression of cyclin D1 (62%).…”

Section: Tumour Suppressor Pathways: Retinoblastoma and P53mentioning

confidence: 92%

“…Inactivation of p53 may result in high levels of two essential negative regulators of p53: MDM2 and MDMX. Overexpression of p53 detected by immunohistochemistry was found in 59% of dedifferentiated chondrosarcomas, 39% of mesenchymal chondrosarcomas, 9% of clear cell chondrosarcomas and not in periosteal chondrosarcomas [14,17]. A significant correlation was observed between overexpression or alteration of the TP53 gene and both the histological grade of the tumour and the presence of metastasis [61].…”

Section: Tumour Suppressor Pathways: Retinoblastoma and P53mentioning

confidence: 94%

“…Mutations in the IDH1 and IDH2 genes have been observed in cartilaginous neoplasms, including conventional central chondrosarcomas ($50%) and dedifferentiated chondrosarcomas (57%) [14][15][16]. IDH1 or IDH2 mutations have been reported in only a small subset (15%) of the periosteal chondrosarcomas [17]. Mutations in IDH1 or IDH2 are early events as they are also found in benign cartilage tumours [15,16].…”

Section: Isocitrate Dehydrogenasementioning

confidence: 99%

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Molecular oncogenesis of chondrosarcoma: impact for targeted treatment

Speetjens

Jong²,

Gelderblom³

et al. 2016

Current Opinion in Oncology

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As many different genetic alterations in chondrosarcoma have been identified, it is of the utmost importance to classify druggable targets that may improve the prognosis of chondrosarcoma patients. In recent years an increased number of trials evaluating targeted therapies are being conducted. As chondrosarcoma is an orphan disease consequently all studies are performed with small numbers of patients. The results of clinical studies so far have been largely disappointing. Therapeutic intervention studies of these new targets emerging from preclinical studies are of highest importance to improve prognosis of chondrosarcoma patients with advanced disease.

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Section: Tumour Suppressor Pathways: Retinoblastoma and P53mentioning

confidence: 92%

Section: Tumour Suppressor Pathways: Retinoblastoma and P53mentioning

confidence: 94%

Section: Isocitrate Dehydrogenasementioning

confidence: 99%

See 1 more Smart Citation

Molecular oncogenesis of chondrosarcoma: impact for targeted treatment

Speetjens

Jong²,

Gelderblom³

et al. 2016

Current Opinion in Oncology

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“…A specific antibody against the IDH R132H mutation, widely used for the diagnosis of gliomas, permits detection of this mutation by immunohistochemistry in rare chondrosarcoma cases (Figure 4A). IDH mutations are present in 87% of Ollier- associated enchondromas, 86% of secondary central chondrosarcoma, 38–70% of primary central chondrosarcoma, ~15% of periosteal chondrosarcoma and 54% of dedifferentiated chondrosarcoma 56–58,75 and are absent in peripheral chondrosarcoma, osteosarcoma and in chordoma. 56,58,76,77 …”

Section: Sarcomas With Simple Genomementioning

confidence: 99%

Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma

Mariño-Enríquez

Bovée

2016

Surgical Pathology Clinics

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Sarcomas are infrequent malignant mesenchymal neoplasms characterized by notable morphological and molecular heterogeneity. At present, the diagnosis of sarcoma is based on morphology, immunohistochemistry, and clinicopathological correlation. Molecular studies in the clinical setting provide refinements to morphologic sarcoma classification, and contribute diagnostic information (frequently), prognostic stratification (rarely) and predictive information concerning specific therapies (occasionally). In this review, we summarize the major molecular mechanisms that underlie sarcoma pathogenesis, highlighting molecular alterations that provide diagnostic, prognostic or predictive information. The discussion focuses on representative mesenchymal tumor types, following a pathogenic classification combining cytogenetic / genomic information and molecular biologic features. We will address five major molecular alterations frequent in sarcoma, including 1) the presence of chimeric transcription factors, in vascular tumors; 2) abnormal kinase signaling, in gastrointestinal stromal tumor; 3) epigenetic deregulation, either by oncometabolites, as a result of metabolic enzyme mutations, or as primary events, in chondrosarcoma, chondroblastoma, and other tumor types; 4) deregulated cell survival and proliferation, due to extreme copy number alterations, in dedifferentiated liposarcoma; and 5) extreme genomic instability in conventional osteosarcoma, as a representative example of sarcomas with highly complex karyotype.

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“…They are typically low or intermediate grade malignancies that originate from the periosteum, firmly distinguishing them from primary CCS [7]. JCS are usually found on the metaphysis or diaphysis of the femur and humerus [8][9][10], and occurrence in the head and neck region is exceedingly rare. These tumors appear to have a positive prognosis with low rates of recurrence, metastases, and a 5-year survival >90% for those with adequate surgical margins [8,10].…”

Section: Introductionmentioning

confidence: 99%

Head and Neck Juxtacortical Chondrosarcoma: A Systematic Review

Jones¹,

Alwani²,

Summerlin³

et al. 2019

AOHNS

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Objective: To present a case and systematically evaluate trends in clinical presentation, imaging, histopathology, and management modalities and outcomes of all head and neck juxtacortical chondrosarcoma (HNJCS) cases reported in the existing literature. Methods: We describe a rare case of HNJCS from our tertiary referral center following which the PubMed, MEDLINE, Embase, and Web of Science databases were searched for all HNJCS reports. Relevant titles and abstracts were screened. Resulting full-text articles were assessed for eligibility, and remaining studies were included for data extraction, summarization, and analysis. Results: Potential studies were identified dating from May 1946 to February 2019. A total of nine cases were included in our systematic review, eight of which were identified from full-text articles and one recruited from our tertiary referral center. The median presentation age was 41 years with a 66.7% male preponderance. The commonest presenting sign was a painless, isolated swelling after a median symptom duration of 2.5 months. CT imaging revealed hypodense lesions with peripheral enhancement and micro-calcifications. T1-weighted MRI showed hypo-to iso-intense, lobulated masses with peripheral and/or septal enhancement. The masses were diffusely hyper-intense on T2-weighted MRI. Histopathology demonstrated septated lobules of malignant hyaline cartilage with a peripheral fibrous capsule. Most tumors were low-or intermediate-grade tumors with average diameter of 4.3 cm. Local recurrence was identified in only one case (four years after initial resection). No distal and/or nodal metastases were identified. All tumors were managed by wide-or narrow-margin surgical excision. Two reports employed adjuvant treatment. There was no evidence of disease at final follow-up (median of 1.5 years). Conclusion: To the best of our knowledge, only nine cases of HNJCS have been adequately described. HNJCS have relatively consistent clinical and diagnostic profile regardless of location in the body. Surgical management yields excellent outcomes with low recurrence rates.

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Periosteal chondrosarcoma: a histopathological and molecular analysis of a rare chondrosarcoma subtype

Cited by 29 publications

References 48 publications

Molecular oncogenesis of chondrosarcoma: impact for targeted treatment

Molecular oncogenesis of chondrosarcoma: impact for targeted treatment

Molecular Pathogenesis and Diagnostic, Prognostic and Predictive Molecular Markers in Sarcoma

Head and Neck Juxtacortical Chondrosarcoma: A Systematic Review

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