Yuhei Yamamoto

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1

Background: Treacher Collins syndrome (TCS) is a disorder of craniofacial development, that is caused by mutations in the TCOF1 gene. TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved.

Undifferentiated pleomorphic sarcoma with lymph node metastasis and subcutaneous metastaes

72歳女性。2001年1月頃, 左膝前面に皮下腫瘤が出現し徐々に増大した。2002年6月, 疼痛を伴ってきたため前医を受診した。生検により平滑筋肉腫の診断で, 同年7月に当科を受診した。初診時, 左膝前面に50mm×50mm, 弾性硬, 下床と癒着する皮下腫瘍を認めた。治療は拡大切除と下腿穿通枝皮弁による再建, 膝靭帯再建, 鼠径リンパ節生検を行った。病理組織学的診断は未分化肉腫でリンパ節に悪性所見を認めず, 術後補助療法は行わなかった。術後3ヵ月で左鼠径リンパ節転移と左大腿皮下転移を認め, 左鼠径リンパ節郭清と左大腿部拡大切除を行うとともに, 補助療法として放射線を照射した。その後, 感受性試験を基にした化学療法を行ったが, 左外腸骨リンパ節転移, 後腹膜腔・骨盤内再発を認め, 2005年2月に永眠された。

Basal cell carcinoma arising in the Large hemangioma simplex on the face

A hemangioma simplex (HS) or a port-wine stain has a tendency to darken in color and to become thickened gradually in its natural history. But it is uncommon for a skin cancer to develop inside an HS.We report a case of a 64-year-old female, who had a large HS on her face from birth, in which a basal cell carcinoma (BCC) developed. At first an excisional biopsy was done to define the histological diagnosis of the nodule which developed on her lower lip, and the diagnosis was BCC. Then a wide local excision of the nodule with 5mm surgical margin and plasty of the enlarged lip and tongue were performed under general anesthesia. At 11 months after the final operation, no sign of loco-regional recurrence was observed.There have been reported 19 cases of BCC developing inside HS in the literature. Eleven of these cases had some previous treatments for HS, such as thorium-X irradiation or cryotherapy. The etiological significance of the therapy is still unknown but is discussed in this article. [Skin Cancer (Japan) 2004; 19: 198-202]