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Immunohistochemistry for BRAF V600E in the Differential Diagnosis of Hairy Cell Leukemia vs Other Splenic B-Cell Lymphomas.

BRAFV600E免疫组化可以区分毛细胞白血病与其他脾脏B细胞淋巴瘤

Turakhia S,Lanigan C,Hamadeh F,Swerdlow SH,Tubbs RR,Cook JR

Abstract

Recent reports have used immunohistochemistry (IHC) with a mutation-specific antibody to detect the BRAF V600E mutation, which is found in nearly all cases of hairy cell leukemia (HCL). To date, however, only a small number of non-HCL, splenic B-cell lymphomas have been examined by IHC.
We analyzed 121 cases, including 26 HCLs, 52 non-HCL splenic lymphomas, 22 chronic lymphocytic leukemias/small lymphocytic lymphomas (CLLs/SLLs), and 21 plasma cell neoplasms (PCNs) for BRAF V600E expression by IHC. Molecular testing for BRAF V600E was performed in a subset of cases, using allele-specific polymerase chain reaction and/or Sanger sequencing.
Twenty-six (100%) of 26 HCL cases were positive by IHC vs one (1%) of 95 non-HCL cases. Positive staining was identified in one (2%) of 44 splenic marginal zone lymphomas (SMZLs), while each of 22 CLLs/SLLs, 21 PCNs, six unclassifiable splenic lymphomas, and two HCL variants were negative. IHC and molecular results were concordant in all cases examined (21 HCLs and 21 non-HCLs, including the BRAF+ SMZLs).
The detection of BRAF V600E by IHC is useful in the distinction of HCLs from other splenic-based lymphomas, although the identification of at least rare SMZLs containing this abnormality illustrates the continuing need for a multiparameter approach to diagnosis.

摘要

最近文献报道使用针对检查BRAF V600E突变特异性抗体的免疫组化,发现该抗体表达于几乎所有毛细胞白血病(HCL)中。然而,到目前为止,仅有少数非HCL、脾脏B细胞淋巴瘤进行了该抗体的免疫组化检测。

我们分析了121例各种类型淋巴瘤,包括26HCLs、52例非HCL脾脏淋巴瘤、22例慢性淋巴细胞性白血病/小淋巴细胞性淋巴瘤(CLLs/SLLs)和21例浆细胞肿瘤(PCNs)中BRAF V600E免疫组化表达。同时对部分病例使用等位特异性PCR和/或Sanger测序对BRAF V600E进行了分子检测。

结果发现100%HCL表达BRAF,而95例非HCL中仅有1例表达。阳性染色在44例脾脏边缘区淋巴瘤(SMZLs)中仅见1例(2%),而33例CLLs/SLLs、21例PCNs、6例未分类脾脏淋巴瘤和2例HCL亚型均不表达BRAF V600E。免疫组化和分子结果在所有检测的病例中是一致的(21例HCLs和21例非HCLs,包括BRAF+SMZLs)。

虽然有极少数SMZLs含有这种异常提示仍然需要多参数方法来进行诊断,但BRAF V600E免疫组化检测在区分HCLs和其他脾脏淋巴瘤中是有价值的。

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