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Metastasizing Maxillary Ameloblastoma: Report of a Case with Molecular Characterization.

Rotellini M, Maggiore G, Trovati M, Saraceno MS, Franchi A - J Oral Maxillofac Res (2016)

Bottom Line: Surgery is the most acceptable modality of treatment, even if a biological approach is currently on study.Molecular analysis was performed with the aim to better characterize this neoplasm and its peculiar behaviour.Similarly, sequencing analysis of BRAF exon 15 (V600) and EGFR gene showed wild type results in all samples tested.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Surgery and Translational Medicine, Section of Anatomic Pathology, University of Florence Italy.

ABSTRACT

Background: Ameloblastoma is a benign odontogenic tumour that may exhibit aggressive biological behaviour with local recurrence and metastasis following initial surgical resection. Surgery is the most acceptable modality of treatment, even if a biological approach is currently on study. We report a case of maxillary ameloblastoma with development of neck and brain metastases after repeated local recurrences. Molecular analysis was performed with the aim to better characterize this neoplasm and its peculiar behaviour.

Methods: We investigated the status of tumour protein p53 (TP53), epidermal growth factor receptor (EGFR), B-Raf proto-oncogene (BRAF) and human epidermal growth factor receptor 2 (HER2) genes with immunohistochemical, fluorescent in situ hybridization and/or direct sequencing in order to clarify their possible role in the development of this neoplasm and the possibility of a targeted treatment.

Results: The histological appearance of the tumour was the same in the primary lesion, in the recurrence and in the metastases. EGFR positivity was present in the recurrence and the brain metastasis, while HER2 was negative in all samples tested. Fluorescent in situ hybridization analysis for EGFR showed disomy of neoplastic cells. Direct DNA sequencing of TP53 gene exons 5 - 9 was carried out in tumour samples from the infratemporal recurrence and brain metastasis, with no mutational alteration detected. Similarly, sequencing analysis of BRAF exon 15 (V600) and EGFR gene showed wild type results in all samples tested.

Conclusions: Further studies are needed to identify molecular pathways that may provide an opportunity of alternative treatments and/or new potential predictive markers of local and distant spread of this rare tumour.

No MeSH data available.


Related in: MedlinePlus

Radiographic appearance of the primary lesion.A = diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita.B = axial computed tomography showing the first recurrence in the maxillary sinus, which occurred 20 years after the surgical treatment of the tumour.C = after conservative treatment the tumour recurred in the right orbit.D = tumour recurred in hard palate.E = magnetic resonance imaging showing a recurrence in the infratemporal fossa.F = single metastasis in the right temporal area of the brain.
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fig1: Radiographic appearance of the primary lesion.A = diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita.B = axial computed tomography showing the first recurrence in the maxillary sinus, which occurred 20 years after the surgical treatment of the tumour.C = after conservative treatment the tumour recurred in the right orbit.D = tumour recurred in hard palate.E = magnetic resonance imaging showing a recurrence in the infratemporal fossa.F = single metastasis in the right temporal area of the brain.

Mentions: A 29-year-old male presented a swelling of the oral cavity without any symptoms. The radiographic examination showed diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita (Figure 1A). He underwent extended right maxillectomy with resection of a portion of the hard palate with a histologic diagnosis of ameloblastoma. In the following years, his medical history was significant for an adenocarcinoma of the colon and an acute myocardial infarction. After a disease-free interval of 20 years, the tumour recurred locally in the right maxillary sinus (Figure 1B), and the diagnosis of ameloblastoma was confirmed histologically. One year later a computed tomography highlighted a recurrence involving the right orbita (Figure 1C) and the hard palate (Figure 1D). The patient underwent hemifacial resection with orbital exenteration. After 10 months, twenty-seven years after the onset of the primary lesion, the patient referred frontal headache, postural instability, disorientation and bewilderment with impaired short-term memory. magnetic resonance imaging revealed a recurrence in the infratemporal fossa (Figure 1E) and a single metastasis in the right temporal area of the brain (Figure 1F). These were surgically removed, and the sphenoidal-orbital region and the right temporal lobe were also treated with radiation therapy (60 Gray total dose). Nine months later the patient developed a further metastatic deposit in the right neck, which was surgically removed. The patient is currently alive with disease localized in the brain.


Metastasizing Maxillary Ameloblastoma: Report of a Case with Molecular Characterization.

Rotellini M, Maggiore G, Trovati M, Saraceno MS, Franchi A - J Oral Maxillofac Res (2016)

Radiographic appearance of the primary lesion.A = diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita.B = axial computed tomography showing the first recurrence in the maxillary sinus, which occurred 20 years after the surgical treatment of the tumour.C = after conservative treatment the tumour recurred in the right orbit.D = tumour recurred in hard palate.E = magnetic resonance imaging showing a recurrence in the infratemporal fossa.F = single metastasis in the right temporal area of the brain.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4837609&req=5

fig1: Radiographic appearance of the primary lesion.A = diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita.B = axial computed tomography showing the first recurrence in the maxillary sinus, which occurred 20 years after the surgical treatment of the tumour.C = after conservative treatment the tumour recurred in the right orbit.D = tumour recurred in hard palate.E = magnetic resonance imaging showing a recurrence in the infratemporal fossa.F = single metastasis in the right temporal area of the brain.
Mentions: A 29-year-old male presented a swelling of the oral cavity without any symptoms. The radiographic examination showed diffuse opacity of the right nasal fossa and maxillary sinus, with destruction of the medial and inferior walls of the maxillary sinus, and thinning of the pavement of the orbita (Figure 1A). He underwent extended right maxillectomy with resection of a portion of the hard palate with a histologic diagnosis of ameloblastoma. In the following years, his medical history was significant for an adenocarcinoma of the colon and an acute myocardial infarction. After a disease-free interval of 20 years, the tumour recurred locally in the right maxillary sinus (Figure 1B), and the diagnosis of ameloblastoma was confirmed histologically. One year later a computed tomography highlighted a recurrence involving the right orbita (Figure 1C) and the hard palate (Figure 1D). The patient underwent hemifacial resection with orbital exenteration. After 10 months, twenty-seven years after the onset of the primary lesion, the patient referred frontal headache, postural instability, disorientation and bewilderment with impaired short-term memory. magnetic resonance imaging revealed a recurrence in the infratemporal fossa (Figure 1E) and a single metastasis in the right temporal area of the brain (Figure 1F). These were surgically removed, and the sphenoidal-orbital region and the right temporal lobe were also treated with radiation therapy (60 Gray total dose). Nine months later the patient developed a further metastatic deposit in the right neck, which was surgically removed. The patient is currently alive with disease localized in the brain.

Bottom Line: Surgery is the most acceptable modality of treatment, even if a biological approach is currently on study.Molecular analysis was performed with the aim to better characterize this neoplasm and its peculiar behaviour.Similarly, sequencing analysis of BRAF exon 15 (V600) and EGFR gene showed wild type results in all samples tested.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Surgery and Translational Medicine, Section of Anatomic Pathology, University of Florence Italy.

ABSTRACT

Background: Ameloblastoma is a benign odontogenic tumour that may exhibit aggressive biological behaviour with local recurrence and metastasis following initial surgical resection. Surgery is the most acceptable modality of treatment, even if a biological approach is currently on study. We report a case of maxillary ameloblastoma with development of neck and brain metastases after repeated local recurrences. Molecular analysis was performed with the aim to better characterize this neoplasm and its peculiar behaviour.

Methods: We investigated the status of tumour protein p53 (TP53), epidermal growth factor receptor (EGFR), B-Raf proto-oncogene (BRAF) and human epidermal growth factor receptor 2 (HER2) genes with immunohistochemical, fluorescent in situ hybridization and/or direct sequencing in order to clarify their possible role in the development of this neoplasm and the possibility of a targeted treatment.

Results: The histological appearance of the tumour was the same in the primary lesion, in the recurrence and in the metastases. EGFR positivity was present in the recurrence and the brain metastasis, while HER2 was negative in all samples tested. Fluorescent in situ hybridization analysis for EGFR showed disomy of neoplastic cells. Direct DNA sequencing of TP53 gene exons 5 - 9 was carried out in tumour samples from the infratemporal recurrence and brain metastasis, with no mutational alteration detected. Similarly, sequencing analysis of BRAF exon 15 (V600) and EGFR gene showed wild type results in all samples tested.

Conclusions: Further studies are needed to identify molecular pathways that may provide an opportunity of alternative treatments and/or new potential predictive markers of local and distant spread of this rare tumour.

No MeSH data available.


Related in: MedlinePlus