Monosomy 22 and del(10)(p12) in an ameloblastoma previously diagnosed as an adenoid cystic carcinoma of the salivary gland

Barril, Nilce; Oliveira, Paulo Roberto Grimaldi; Tajara, Eloíza H.

doi:10.1016/s0165-4608(96)00154-9

Cited by 11 publications

(4 citation statements)

References 5 publications

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“…Future studies will clarify whether the pattern of chromosomal abnormalities described here is characteristic of CCOC and whether it predicts clinical behavior. Cytogenetic analysis of four previously reported cases of ameloblastomas demonstrated monosomy 22 in two of them [3,20]. The pattern of chromosomal abnormalities detected in the recurrent CCOC investigated, (losses of 6 and 9, gains of 14q, 19, and 20), clearly differs from cytogenetic findings in ameloblastoma.…”

Section: Discussionmentioning

confidence: 66%

Clear-cell odontogenic carcinoma with pulmonary metastases resembling pulmonary meningothelial-like nodules

et al. 2001

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Clear-cell odontogenic carcinoma (CCOC) is a rare neoplasm with malignant potential and unknown cytogenetic alterations. We describe the case of a 43-year-old woman who presented with an unusual odontogenic epithelial tumor. Histologically, the tumor was composed of clear-cell areas and exhibited a squamous pattern with little nuclear pleomorphism similar to benign squamous odontogenic tumor. Multiple small pulmonary nodules occurring 3 years after primary surgical treatment histologically closely resembled benign minute pulmonary meningothelial-like nodules (MPMN) with clear-cell features. Comparative genomic hybridization (CGH) and immunohistochemistry, performed as diagnostic adjuncts, revealed in the odontogenic tumor and the pulmonary lesions a very similar pattern of chromosomal aberrations (loss of 9, gains of 14q, 19 and 20 in both, and additional loss of 6 in the odontogenic tumor) and the same pattern of expression (positive for cytokeratin 5, 6, 8, 19 and negative for cytokeratin 18, epithelial membrane antigen, and vimentin), differing from that of MPMN. These findings confirmed the final diagnosis of metastasizing CCOC with partial squamous differentiation, substantiated the unfavorable prognosis of the clear-cell component, and highlighted the diagnostic impact of CGH and immunohistochemistry for classification of these morphologically peculiar pulmonary CCOC metastases.

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Section: Discussionmentioning

confidence: 66%

Clear-cell odontogenic carcinoma with pulmonary metastases resembling pulmonary meningothelial-like nodules

et al. 2001

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“…13,14 Chromosomal imbalances in ameloblastomas are reported to be rare with losses in chromosomes 22 and 10 being most frequently described. 15,16 Aneuploidy is more common in ameloblastic carcinomas than ameloblastomas and may predict malignant potential. 17 Several immunohistochemical studies have been described in the literature as an attempt to understand the mechanism of development of ameloblastomas.…”

Section: Discussionmentioning

confidence: 99%

Allelic loss of tumor suppressor genes in ameloblastic tumors

et al. 2004

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Ameloblastoma is an odontogenic tumor with a variety of histologic appearances and an unpredictable biologic behavior. Little is known about allelic losses of tumor suppressor genes in ameloblastomas. This study surveyed DNA damage in ameloblastomas and correlated this with histologic sub-type and clinical outcome. There were 12 ameloblastomas (two peripheral, eight solid, and two unicystic) and three ameloblastic carcinoma studied for loss of heterozygosity of tumor suppressor genes on chromosomes 1p, 3p, 9p,10q, and 17p (L-myc, hOGG1, p16, pten, and p53). The frequency of allelic loss and the intratumoral heterogeneity were calculated. L-myc (71% frequency of allelic loss) and pten (62% frequency of allelic loss) had the most frequent allelic losses. Overall frequency of allelic loss and intratumoral heterogeneity were higher in mandibular and in unicystic tumors and lower in tumors that recurred/metastasized. The rate of allelic loss in the three carcinomas was similar to that seen in benign tumors. The frequency of allelic loss and intratumoral heterogeneity did not correlate with age, gender, histologic subtype, or prognosis. Since tumors that behaved aggressively did not harbor more allelic losses, it is likely that DNA damage in ameloblastomas and ameloblastic carcinomas is sporadic and cumulative. We conclude that other genetic or epigenetic mechanisms may be responsible for malignant behavior in ameloblastic carcinomas.

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“…Amplification of the MDM2 gene locus was defined as an MDM2/CEN12 signal ratio ≥2 in >10% of the total number of cells or as clustering of multiple copies of green signals [79,80]. In ameloblastomas, CEN12 was expected to be euploid, as chromosomal copy number variations for this tumor are rare and do not include chromosome 12 [73,[81][82][83][84]. Therefore, no external controls were necessary.…”

Section: Fishmentioning

confidence: 99%

Association of MDM2 Overexpression in Ameloblastomas with MDM2 Amplification and BRAFV600E Expression

Tosios,

Kalogirou,

Koutlas

2024

IJMS

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Ameloblastoma is a rare tumor but represents the most common odontogenic neoplasm. It is localized in the jaws and, although it is a benign, slow-growing tumor, it has an aggressive local behavior and high recurrence rate. Therefore, alternative treatment options or complementary to surgery have been evaluated, with the most promising one among them being a targeted therapy with the v-Raf murine sarcoma viral oncogene homologue B (BRAF), as in ameloblastoma the activating mutation V600E in BRAF is common. Studies in other tumors have shown that the synchronous inhibition of BRAF and human murine double minute 2 homologue (MDM2 or HDM2) protein is more effective than BRAF monotherapy, particularly in the presence of wild type p53 (WTp53). To investigate the MDM2 protein expression and gene amplification in ameloblastoma, in association with BRAFV600E and p53 expression. Forty-four cases of ameloblastoma fixed in 10% buffered formalin and embedded in paraffin were examined for MDM2 overexpression and BRAFV600E and p53 expression by immunohistochemistry, and for MDM2 ploidy with fluorescence in situ hybridization. Sixteen of forty-four (36.36%) cases of ameloblastoma showed MDM2 overexpression. Seven of sixteen MDM2-positive ameloblastomas (43.75%) were BRAFV600E positive and fifteen of sixteen MDM2-positive ameloblastomas (93.75%) were p53 negative. All MDM2 overexpressing tumors did not show copy number alterations for MDM2. Overexpression of MDM2 in ameloblastomas is not associated with MDM2 amplification, but most probably with MAPK activation and WTp53 expression. Further verification of those findings could form the basis for the use of MDM2 expression as a marker of MAPK activation in ameloblastomas and the trial of dual BRAF/MDM2 inhibition in the management of MDM2-overexpressing/BRAFV600E-positive/WTp53 ameloblastomas.

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Monosomy 22 and del(10)(p12) in an ameloblastoma previously diagnosed as an adenoid cystic carcinoma of the salivary gland

Cited by 11 publications

References 5 publications

Clear-cell odontogenic carcinoma with pulmonary metastases resembling pulmonary meningothelial-like nodules

Clear-cell odontogenic carcinoma with pulmonary metastases resembling pulmonary meningothelial-like nodules

Allelic loss of tumor suppressor genes in ameloblastic tumors

Association of MDM2 Overexpression in Ameloblastomas with MDM2 Amplification and BRAFV600E Expression

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