Rieko Doi

Intraosseous Schwannoma of the Mandible

Abstract This report is of a patient with intraosseous Schwannoma of the mandible, which is extremely rare and must be cautiously diagnosed. A 45-year-old woman had a radiolucent figure at the right ramus of the mandible. The enucleated tumour consisted of spindle-shaped cells with palisading and collagenous fibres, and demonstrated a clear borderline and encapsulation by a coat. Schwannoma was discriminated from neurofibroma, leiomyoma, and fibroma using Elastica van Gieson stain, Massons trichrome stain, and the immunostains anti-S 100 protein antibody, anti-glial fibrillary acidic protein antibody, anti-α-SMA antibody, and anti-desmine antibody.

A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.

Clinicopathological Profile of Oral Soft Tissue Sarcoma

Abstract Objective: To ascertain the clinicopathological profile of oral soft tissue sarcoma. Patients and Methods: Between 1980 and 2000, twelve patients with oral soft tissue sarcoma were evaluated for the expression profile of tumour suppression gene products (p53, pRB, p16) proliferating cell nuclear antigen labelling index; invasive and metastatic potential by matrix metalloproteinase expression; and intratumoural microvessel density. Results: Oral soft tissue sarcomas generally presented as asymptomatic masses. All patients were treated by surgery except for 2 who had distant metastasis at presentation. Local recurrences after surgery were observed in 6 of the 10 operated patients (60.0%), and distant metastasis occurred in 7 of 12 patients (58.3%). Nine patients (75.0%) died despite treatment. In immunohistochemical studies, overexpression of p53 was noted in 6 of the 10 operated patients (60.0%) and loss of p16 expression was noted in 8 patients (80.0%). The mean proliferating cell nuclear antigen labelling index was 31.4%. Matrix metalloproteinase-2 and matrix metalloproteinase-9 expression was observed in all patients and the tumours showed low intratumoural microvessel density (mean, 4.5 per examination area). Conclusion: These observations illustrate the well-recognised high proliferative potential and aggressiveness without angiogenesis of oral soft tissue sarcomas.