Adenoid cystic carcinoma of the maxillary sinus: a clinical-pathological report of 10 years of experience from a single institution.

Adenoid cystic carcinoma (ACC) is the most common malignant salivary gland tumour of the maxillary sinus. The present study describes 24 cases seen over a period of 10 years at the Brazilian National Cancer Institute. Socio-demographic, clinical, pathological, and follow-up data were retrieved from the medical files for the period 1997-2006. The mean age of the patients was 51.1 years. Twenty-one (87.5%) presented advanced tumours. The main signs and symptoms found were a tumour mass (87.5%), pain (50%), nasal obstruction (25%), and epistaxis (20.8%). Most cases (62.5%) were treated with surgery and radiation therapy. Follow-up data showed two patients (8.3%) with residual disease, local recurrences in four (16.7%) patients, and distant metastasis in five (20.8%). The overall 5- and 10-year survival rates were 72.61% and 62.11%, respectively. Maxillary sinus ACC has an aggressive but indolent behaviour, typically presenting at an advanced T stage that reflects a poor prognosis for patients.

Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon by exon" PCR mediated SSCP analysis.

AIMS: To carry out a retrospective study, screening for mutations of the entire coding region of RB1 and adjacent intronic regions in patients with retinoblastoma. METHODS: Mutation screening in DNA extracts of formalin fixed, paraffin wax embedded tissues of 28 patients using combined "exon by exon" polymerase chain reaction mediated single strand conformational polymorphism analysis, followed by DNA sequencing. RESULTS: Eleven mutations were found in 10 patients. Ten mutations consisted of single base substitutions; 10 were localised in exonic regions (eight nonsense, one missense, and one frameshift) and another one in the intron-exon splicing region. Three novel mutations were identified: a 2 bp insertion in exon 2 (g.5506-5507insAG, R73fsX77), a G to A transition affecting the last invariant nucleotide of intron 13 (g.76429G>A), and a T to C transition in exon 20 (g.156795T>C, L688P). In addition, eight C to T transitions, resulting in stop codons, were found in five different CGA codons (g.64348C>T, g.76430C>T, g.78238C>T, g.78250C>T, and g.150037C>T). Although specific mutation hotspots have not been identified in the literature, eight of the 11 mutations occurred in CGA codons and seven fell within the E1A binding domains (codons 393-572 and 646-772), whereas five were of both types-in CGA codons within E1A binding domains. CONCLUSIONS: CGA codons and E1A binding domains are apparently more frequent mutational targets and should be initially screened in patients with retinoblastoma. Paraffin wax embedded samples proved to be valuable sources of DNA for retrospective studies, providing useful information for genetic counselling.