A Single Missense Mutation in Codon 918 of the RET Proto-Oncogene in Sporadic Medullary Thyroid Carcinomas.

DOI Web Site PubMed 被引用文献6件 参考文献23件
  • MAEDA SHIGETO
    Second Department of Surgery, Atomic Disease Institute, Nagasaki University School of Medicine
  • NAMBA HIROYUKI
    Department of Cell Physiology, Atomic Disease Institute, Nagasaki University School of Medicine
  • TAKAMURA NOBORU
    Department of Cell Physiology, Atomic Disease Institute, Nagasaki University School of Medicine
  • TANIGAWA KEN
    Department of Cell Physiology, Atomic Disease Institute, Nagasaki University School of Medicine
  • TAKAHASHI MASAHIDE
    Department of Pathology, Nagoya University School of Medicine
  • NOGUCHI SHIROH
    Noguchi Hospital
  • NAGATAKI SHIGENOBU
    First Department of Internal Medicine, Nagasaki University School of Medicine
  • KANEMATSU TAKASHI
    Second Department of Surgery, Atomic Disease Institute, Nagasaki University School of Medicine
  • YAMASHITA SHUNICHI
    Department of Cell Physiology, Atomic Disease Institute, Nagasaki University School of Medicine

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抄録

The RET proto-oncogene is expressed in human medullary thyroid carcinoma and pheochromocytoma.Recently germline mutations of the RET proto-oncogene were reported in four syndromes (MEN 2A, MEN 2B, familial medullary thyroid carcinoma and Hirschprung's disease) and somatic mutation was also found in sporadic medullary thyroid carcinoma. To determine the incidence of RET mutations in medullary thyroid carcinoma in Japan, we investigated 14 medullary thyroid carcinomas (comprising 1 case of MEN 2A, 1 case of MEN 2B, 2 cases of familial medullary thyroid carcinoma and 10 cases of sporadic). Tumors from all cases were screened by PCR-SSCP on exons 10 and 11. DNA sequencing on these exons was performed for the hereditary medullary thyroid carcinoma cases. The PCR products of exon 16 from tumor DNA were analyzed by means of Fok1 restriction enzyme digestion analysis and mutations confirmed by DNA sequencing. We found no structural abnormalities in either exon 10 or exon 11 in any of the cases examined, but in four of 10 sporadic cases we detected a common point mutation at codon 918 (ATG to ACG) in exon 16, where methionine was replaced with threonine. Our results support the theory that a point mutation of exon 16 of the RET proto-oncogene may be related to the oncogenesis of sporadic medullary thyroid carcinomas. However, further studies on the entire RET proto-oncogene are needed to clarify the relationship between its expression and thyroid tumorigenesis.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 42 (2), 245-250, 1995

    一般社団法人 日本内分泌学会

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