Clear cell-rich salivary duct carcinoma involving the palate / Carcinoma do ducto salivar rico em células claras envolvendo o palato

ABSTRACT Salivary duct carcinoma (SDC) is a rare and aggressive neoplasm arising from salivary glands. SDC occurs most frequently in major salivary glands, with isolated cases arising from the minor salivary glands. The occurrence of clear cells in salivary gland tumors is uncommon and is rarer in SDC cases. We report the case of a 51-year-old male diagnosed with a clear cell variant of SDC in the minor salivary gland, involving the left hard palate. Immunohistochemical analysis revealed positivity for HER2/neu and GATA-3. The patient was submitted to radical surgical excision, neck dissection, and radiotherapy. Unfortunately, he died 14 months after the cancer diagnosis.

RESUMEN El carcinoma ductal de las glándulas salivales (CDS) es un tumor raro y agresivo que surge de las glándulas salivales. El CDS ocurre con mayor frecuencia en las glándulas salivales mayores, sin embargo, existen casos aislados de afectación en las glándulas salivales menores. La aparición de células claras en los tumores de las glándulas salivales es infrecuente y más rara en los casos de CDS. Presentamos el caso de un varón de 51 años al que se le diagnosticó la variante de células claras del CDS en la glándula salival menor, que afecta al paladar duro izquierdo. El análisis inmunohistoquímica reveló positividad para HER2/neu y GATA-3. El paciente fue sometido a escisión local quirúrgica radical, disección del cuello y la radioterapia. Desafortunadamente, murió 14 meses después del diagnóstico de cáncer.

RESUMO O carcinoma do ducto salivar (CDS) é um tumor raro e agressivo que se origina nas glândulas salivares. O CDS ocorre mais frequentemente nas glândulas salivares maiores, porém, há casos isolados de acometimento nas glândulas salivares menores. A ocorrência de células claras em tumores de glândulas salivares é incomum, sendo ainda mais rara nos casos de CDS. Relatamos o caso de um homem de 51 anos de idade que foi diagnosticado com a variante de células claras de CDS em glândula salivar menor, envolvendo o palato duro do lado esquerdo. A análise imuno-histoquímica revelou positividade para HER2/neu, GATA-3. O paciente foi submetido a excisão cirúrgica radical, esvaziamento cervical e radioterapia. Entretanto, ele faleceu 14 meses após o diagnóstico do câncer.

Association between histopathological features of dysplasia in oral leukoplakia and loss of heterozygosity.

AIMS: Oral leukoplakia (OL) dysplasia is graded on the basis of architectural and cytological features, and grade does not correlate well with malignant transformation. Loss of heterozygosity (LOH) profiles have been validated as risk predictors of OL malignant transformation. We aimed to assess whether the histological parameters used to grade dysplasia show different LOH profiles. METHODS AND RESULTS: Areas of epithelial dysplasia of 29 OL samples were microdissected, and LOH was assessed by use of a panel of 11 microsatellite markers located on chromosomes 3, 9, 11, and 17. Dysplasia was graded, and the cytological and architectural parameters were scored. Dysplasia was graded as mild in 18 samples, moderate in nine, and severe in two. The moderate/severe dysplasias and the mild dysplasias did not show different frequencies of allelic loss. Irregular epithelial stratification was associated with LOH at marker D3S1234 (3p14.2). In addition, the presence of drop-shaped rete ridges and premature keratinization in single cells showed associations with LOH at D9S162 (9p22) and P53 (17p13.1), respectively. CONCLUSIONS: We provide evidence that architectural and cellular changes in OL have different LOH patterns.

Defects of the Carney complex gene (PRKAR1A) in odontogenic tumors.

The surgical treatment of some odontogenic tumors often leads to tooth and maxillary bone loss as well as to facial deformity. Therefore, the identification of genes involved in the pathogenesis of odontogenic tumors may result in alternative molecular therapies. The PRKAR1A gene displays a loss of protein expression as well as somatic mutations in odontogenic myxomas, an odontogenic ectomesenchymal neoplasm. We used a combination of quantitative RT-PCR (qRT-PCR), immunohistochemistry, loss of heterozygosity (LOH) analysis, and direct sequencing of all PRKAR1A exons to assess if this gene is altered in mixed odontogenic tumors. Thirteen tumors were included in the study: six ameloblastic fibromas, four ameloblastic fibro-odontomas, one ameloblastic fibrodentinoma, and two ameloblastic fibrosarcomas. The epithelial components of the tumors were separated from the mesenchymal by laser microdissection in most of the cases. We also searched for odontogenic pathology in Prkar1a(+) (/) (-) mice. PRKAR1A mRNA/protein expression was decreased in the benign mixed odontogenic tumors in association with LOH at markers around the PRKAR1A gene. We also detected a missense and two synonymous mutations along with two 5'-UTR and four intronic mutations in mixed odontogenic tumors. Prkar1a(+) (/) (-) mice did not show evidence of odontogenic tumor formation, which indicates that additional genes may be involved in the pathogenesis of such tumors, at least in rodents. We conclude that the PRKAR1A gene and its locus are altered in mixed odontogenic tumors. PRKAR1A expression is decreased in a subset of tumors but not in all, and Prkar1a(+) (/) (-) mice do not show abnormalities, which indicates that additional genes play a role in this tumor's pathogenesis.

Clinical significance of EGFR, Her-2 and EGF in oral squamous cell carcinoma: a case control study.

BACKGROUND: The erbB receptors and their ligands are involved in the pathogenesis and progression of oral squamous cell carcinoma (OSCC). Although EGFR and Her-2 are frequently overexpressed in OSCC, few studies evaluated these proteins in saliva and their association with the tumor, which may represent potential usefulness in a clinical setting. METHODS: The levels of EGFR, Her-2, and EGF were evaluated in saliva of 46 patients with OSCC before and after the surgical removal of the lesion, as well as in matched healthy controls. The relationship of salivary levels and EGFR and Her-2 immunoexpression in tumor samples with clinicopathological features was analyzed. RESULTS: EGFR and Her-2 salivary levels did not show difference between to pre-surgery and control groups, however, both demonstrated an increase after surgical removal of the tumor. No association was detectable among receptor salivary levels, tissue expression and clinicopathological features. EGF levels in pre-surgery group were significantly lower when compared to the control group. CONCLUSIONS: EGFR and Her-2 were not considered to be valuable salivary tumor markers in OSCC, however, lower levels of EGF in saliva may suggest a higher susceptibility for OSCC development.