Investigation of the BRAF V600E Mutation by Pyrosequencing in Lymphoproliferative Disorders

被引：25

作者：

Laurini, Javier A. ^{[1
]}

Aoun, Patricia ^{[1
]}

Iqbal, Javeed ^{[1
]}

Chan, Wing ^{[1
]}

Greiner, Timothy C. ^{[1
]}

机构：

[1] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, Omaha, NE 68195 USA

来源：

AMERICAN JOURNAL OF CLINICAL PATHOLOGY | 2012年 / 138卷 / 06期

关键词：

Pyrosequencing; Lymphoma; Hairy cell leukemia; BRAF mutations; PTLD; HAIRY-CELL LEUKEMIA; LUNG ADENOCARCINOMAS; COLORECTAL-CANCER; B-CELL; DIAGNOSIS; GENES; ASSAY;

D O I：

10.1309/AJCP5TWORA0TMXGL

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. However, many uncommon subtypes of lymphoma have not been studied. We designed a BRAF pyrosequencing assay specific for the V600E mutation, which has a sensitivity of 5% and is applicable to paraffin-embedded tissue. DNA was sequenced in 9 cases of HCL; 6 cases of variant HCL; 10 cases each of nodal marginal zone lymphoma (NMZL), extranodal marginal zone lymphoma (ENMZL), posttransplantation lymphoproliferative disorder (PTLD), and large granular lymphocyte (LGL) proliferations; 11 cases of peripheral T-cell lymphoma (PTCL); and 12 cases of anaplastic large cell lymphoma (ALCL). All (100%) cases of HCL were positive for BRAF mutations. No mutations were identified in variant HCL, NMZL, ENMZL, PTLD, PTCL, ALCL, or LGL proliferations. Among lymphoproliferative disorders, BRAF mutations are restricted to HCL.

引用

页码：877 / 883

页数：7

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