A Novel Complex BRAF Mutation Detected in a Solid Variant of Papillary Thyroid Carcinoma

被引：66

作者：

Chiosea, Simion ^{[1
,2
]}

Nikiforova, Marina ^{[2
]}

Zuo, Hui ^{[2
]}

Ogilvie, Jennifer ^{[3
]}

Gandhi, Manoj ^{[2
]}

Seethala, Raja R. ^{[2
]}

Ohori, N. Paul ^{[2
]}

Nikiforov, Yuri ^{[2
]}

机构：

[1] Univ Pittsburgh, Presbyterian Hosp, Dept Pathol, Med Ctr, Pittsburgh, PA 15213 USA

[2] Univ Pittsburgh, Sch Med, Dept Pathol & Lab Med, Pittsburgh, PA 15261 USA

[3] Univ Pittsburgh, Sch Med, Dept Surg, Pittsburgh, PA 15261 USA

来源：

ENDOCRINE PATHOLOGY | 2009年 / 20卷 / 02期

关键词：

BRAF mutations; papillary thyroid carcinoma; solid variant; FUNCTIONAL-CHARACTERIZATION; SIGNALING PATHWAY; HIGH PREVALENCE; B-RAF; CANCER; ACTIVATION; GENE; METASTASIS; RECURRENCE; MECHANISM;

D O I：

10.1007/s12022-009-9073-3

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

BRAF gene mutations are identified in about 45% of papillary thyroid carcinomas (PTC) and represent the most common genetic event in this tumor. Here, we report a case of PTC, solid variant, with a complex BRAF mutation that involves one nucleotide substitution, C1796T, and a CTT triplet insertion, 1798_1799insCTT, located on the same allele. This mutation leads to the replacement of a threonine with an isoleucine, T599I, and replacement of a valine with an alanine and a leucine, V600delinsAL. This mutation was identified both in the preoperative fine needle aspirate sample and in the surgical specimen after total thyroidectomy. Other rare BRAF mutations in PTC are reviewed.

引用

页码：122 / 126

页数：5

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