Yoshiyuki Endo

BRAF mutations in papillary carcinomas of the thyroid.

BRAF is a serine/threonine kinase that receives a mitogenic signal from RAS and transmits it to the MAP kinase pathway. Recent studies have reported that mutations of the BRAF gene were detected with varying frequencies in several cancers, notably more than 60% in melanoma. We analysed mutations of BRAF and RAS genes in 100 cases of thyroid carcinoma to investigate genetic aberrations in the RAS/RAF/MEK/MAP kinase pathway. BRAF mutations were detected exclusively in papillary carcinomas (40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas. NRAS mutation was observed in six cases (6%), all in histological types other than papillary carcinoma, and was exclusively Q61R. No mutations were found in KRAS or HRAS. Our results suggest that BRAF mutations may play a critical role in the carcinogenesis of papillary carcinoma of the thyroid.

Adenoendocrine cell carcinoma of the gallbladder: report of a case.

Adenoendocrine cell carcinoma of the gallbladder is an uncommon form of cancer. We treated a 36-year-old woman who came to us with a chief complaint of abdominal pain. The abnormality was diagnosed to be a tumor-like mass in the gallbladder, and adenomyomatosis of the gallbladder was strongly suspected. A laparoscopic cholecystectomy was successfully performed, and the histopathological finding was adenoendocrine cell carcinoma of the gallbladder. The tumor cells of the small round cell carcinoma partly stained positively for synaptophysin, neuron-specific enolase, and CD 56, while adenocarcinoma cells showed positive reactions to keratin, which was thus suggestive of adenoendocrine cell carcinoma. The patient is alive and doing well at 12 months after the treatment.

Prognostic Relevance of Tn Expression in Breast Cancer

BackgroundAbnormal glycosylation patterns have been recognized as a feature of carcinoma-associated mucins. The expression of the Tn antigen in breast cancer tissue was investigated to assess its prognostic relevance.MethodsFormalin-fixed, paraffin-embedded materials from 219 patients with breast cancer were used. Immunohistochemical staining of the Tn antigen was retrospectively investigated and a lesion staining 10% or more was considered positive.ResultsTn antigen expression was present in 99 (45%) of 219 lesions. There were no correlations between Tn antigen expression and mean patient age, nodal status, estrogen receptor status, or menopausal status, but there was a slightly significant association between Tn and tumor size. Patients negative for the Tn antigen had a significantly better survival rate than those who were positive. Multivariate analysis also indicated that Tn expression correlated significantly with overall survival in addition to nodal status and tumor size.ConclusionsTn expression was a significant prognostic factor in breast cancer, but the significance was lost on multivariate analysis. The biological implication of Tn expression in breast cancer needs further investigation.

Rhabdomyosarcoma Presenting as an Anterior Cervical Mass in an Adult: Report of a Case

Abstract We report herein the case of a 61-year-old man who was referred to our hospital for treatment of a rapidly growing tumor in the right anterior cervical region. A 13 × 14 × 15 cm mass was palpated on physical examination. Computed tomography (CT) findings indicated a thyroid tumor, but cytology results suggested rhabdomyosarcoma. A tumor, measuring 9.3 × 7.2 × 5.2 cm and weighing 220 g, was resected and histopathological examination confirmed a diagnosis of rhabdomyosarcoma. Cervical rhabdomyosarcoma is rarely found in adults.