title: Clinical implications of pre-operative rapid BRAF analysis for papillary thyroid cancer.
abstract: The activating point mutation of the BRAF gene, BRAF(T1799A), is the most common and specific genetic alteration in adult papillary thyroid carcinoma (PTC) and a possible marker of malignant potential of PTC. We have applied the PCR-RFLP method using fine-needle aspiration biopsy samples not only to our clinical practice but also to the international medical assistance effort around the Semipalatinsk Nuclear Testing Site in Kazakhstan. Seventy-seven cases (100 nodules) from Japan and 131 cases (137 nodules) from Kazakhstan were examined. There were 14 Japanese and 76 Kazakhstani cases of cytological malignant tumors from the examined samples. We detected 12 (85.7% of PTC) and 19 (25% of PTC) cases with BRAF(T1799A) among the Japanese and Kazakhstani cases, respectively. Of these cases, we found mutations in one cytologically "suspicious" case and even in two pathologically "benign" cases (after surgery in Kazakhstan). All of the BRAF mutation-positive cases, including those three, were confirmed as PTC by careful pathological examination, including immunohistochemical analysis. In summary, our PCR-RFLP method for BRAF(T1799A) detection using FNAB samples is useful not only for preoperative diagnosis of PTC but also as a complementary diagnostic tool for accurate pathological diagnosis, even after surgery.
authors.affiliation: Department of Molecular Medicine, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kumagai
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Namba
authors.forename: Zhanay
authors.initials: Z
authors.lastname: Akanov
authors.forename: Vladimir A
authors.initials: VA
authors.lastname: Saenko
authors.forename: Serik
authors.initials: S
authors.lastname: Meirmanov
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtsuru
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yano
authors.forename: Shigeto
authors.initials: S
authors.lastname: Maeda
authors.forename: Masanobu
authors.initials: M
authors.lastname: Anami
authors.forename: Tomayoshi
authors.initials: T
authors.lastname: Hayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ito
authors.forename: Sagadat
authors.initials: S
authors.lastname: Sagandikova
authors.forename: Zhanar
authors.initials: Z
authors.lastname: Eleubaeva
authors.forename: Daniyal
authors.initials: D
authors.lastname: Mussinov
authors.forename: Maira
authors.initials: M
authors.lastname: Espenbetova
authors.forename: Shunichi
authors.initials: S
authors.lastname: Yamashita
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D003940:Diagnostic Techniques, Endocrine; D005260:Female; D006801:Humans; D007564:Japan; D007623:Kazakhstan; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D011300:Preoperative Care; D048493:Proto-Oncogene Proteins B-raf / Q000032:analysis* / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf