Paôlla Freitas Perdigão

Oral myiasis by screwworm Cochliomyia hominivorax.

We report a rare case of periodontal myiasis by New World screwworm Cochliomyia hominivorax, an obligatory larval parasite, in a 66-year-old woman. The myiasis occurred in the anterior upper jaw associated with a pre-existent generalised periodontitis. About 40 larvae were removed from the lesion. One week later the periodontal tissues were healing normally and the patient was referred to a periodontist. As all of the larvae were in the last stage, they were probably deposited 5-7 days before.

Characterization of the tumor suppressor gene WWOX in primary human oral squamous cell carcinomas

Oral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral cavity, representing ˜90% of all oral carcinomas and accounting for 3–5% of all malignancies. The WWOX gene (WW‐domain containing oxidoreductase) is a candidate tumor suppressor gene located at 16q23.3–24.1, spanning the second most common fragile site, FRA16D. In this report, the role of the WWOX gene was investigated in 20 tumors and 10 normal oral mucosas, and we demonstrated an altered WWOX gene in 50% (10/20) of OSCCs. Using nested RT‐PCR, mRNA transcription was altered in 35% of the tumors, with the complete absence of transcripts in 2 samples as well as absence of exons 6–8 (2 tumors), exon 7 (1 tumor), exon 7 and exon 6–8 (1 tumor) and partial loss of exons 8 and 9 (1 tumor). To determine if the aberrant transcripts were translated, Western blots were performed in all samples; however, only the normal protein was detected. By immunohistochemistry, a reduction in Wwox protein expression was observed, affecting 40% of the tumors when compared with normal mucosa. In addition, a novel somatic mutation (S329F) was found. The presence of alterations in mRNA transcription correlated with the reduced expression of Wwox protein in the tumors. These results show that the WWOX gene is frequently altered in OSCC and may contribute to the carcinogenesis processes in oral cancer.

Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism.

Central giant cell lesion (CGCL) is a reactive bone lesion that occurs mainly in the mandible, characterized by the multinucleated osteoclast-like giant cells in a background of oval to spindle-shaped mononuclear cells. The etiology is unknown and occurs more commonly in young adults. Cherubism, a rare disease found predominantly in females has histologic characteristics indistinguishable from those of CGCL and is caused by mutations mostly present in exon 9 of the SH3BP2 gene. In this study, we investigated four cases of CGCL and one case of cherubism. DNA was extracted from peripheral blood and tumor tissue and all coding and flanking regions of the SH3BP2 amplified by PCR and directly sequenced to identify underlying mutations. Two novel mutations were found; a heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and a heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. These findings open a new window to investigate the possible relationship between the pathogenesis of the cherubism and CGCL.

Idiopathic bone cavity: a clinical, radiographic, and histological study

The aim of the present study was to evaluate the clinical, radiographic and histological characteristics of idiopathic bone cavities from the Oral Pathology archives at Universidade Federal de Minas Gerais. Forty-three cases were retrieved. Age, sex, some radiographic variables and morphological variables measured of the connective tissue, were studied. The results showed the men who developed cavities tended to be younger than women (median 16 years (range 11-48) compared with 18 (12-64)). Radiographically rounded lesions that were single, unilocular, and small were more common in younger patients. While rounded cavities occurred mainly in the anterior region, cavities with interdental scalloping occurred in the posterior area. The median age of the patients with thin connective tissue on the wall of the bony cavity was lower than that of those with a thicker lining. In conclusion, the present study shows that there is a significant relation between age and sex, radiographic and histological variables. These findings may contribute to the diagnosis of idiopathic bone cavities.

NFATc1 and TNFα expression in giant cell lesions of the jaws

BACKGROUND Activation mutations of SH3BP2 gene have been demonstrated in cherubism and central giant cell lesion (CGCL). In the present study we first attempted to investigate the SH3BP2 gene in peripheral giant cell lesion (PGCL). The effect of SH3BP2 gene mutations on the transcription of the downstream genes nuclear factor of activated T cells (NFATc1) and the cytokine tumor necrosis factor-alpha (TNF-alpha) was also investigated together with the immunolocalization of NFATc1 protein in a set of cases of PGCL, CGCL and cherubism with and without SH3BP2 mutation. METHOD Fresh samples of five PGCL, five CGCL and one cherubism cases were included in this study. One of the samples of CGCL presented a somatic heterozygous mutation c.1442A>T in exon 11. The cherubism case showed a heterozygotic substitution c.320C>T in both blood and lesion. These mutations were previously published. All coding and flanking regions of the SH3BP2 gene were sequenced in the cases of PGCL. The real-time polymerase chain reaction (RT-PCR) was performed to analyze the transcription of NFATc1 and TNF-alpha genes. The immunohistochemical analysis of the NFATc1 protein was also performed. RESULTS No SH3BP2 gene mutation was found in PGCL. The RT-PCR showed increased expression of NFATc1 and decreased transcription of TNF-alpha in all the samples. The immunohistochemical analysis of the NFATc1 protein showed a predominant nuclear staining in the multinucleated giant cells. CONCLUSION The development of giant cells lesions of the jaws and cherubism are possibly mediated by overexpression of NFAT in the nucleus of the multinucleated cells.

Oral Metastasis of Breast Carcinoma Diagnosed by Fine Needle Aspiration Cytology

BACKGROUND Fine needle aspiration cytology (FNAC) is an important technique in the diagnosis of oral and maxillofacial conditions. The purpose of the present paper is to report a case of oral metastasis of breast carcinoma diagnosed by FNAC. CASE A 45-year-old, black woman was referred for evaluation of symptomatic swelling in the left mandible. The medical history revealed that the patient had undergone extensive surgery to remove a lobular carcinoma. She had finished chemotherapy treatment about 5 months earlier. Due to the main diagnostic considerations of metastatic and inflammatory disease, FNAC was performed. The cytologic picture was consistent with a metastatic glandular neoplasm. CONCLUSION FNAC is a safe, reliable, cost-effective and easy procedure and sometimes eliminates the need for open biopsy.