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首页> 外文期刊>Pathology >Detection of gunshot residues (GSR) on a self-inflicted gunshot wound.
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Detection of gunshot residues (GSR) on a self-inflicted gunshot wound.

机译：检测自我施加的枪弹伤口上的枪弹残留物（GSR）。

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There is concern that BRAF mutant naevus cells admixed with melanoma cells could cause false positive mutation tests in BRAF wild-type melanomas. We sought to assess the frequency of BRAF(V600E) mutations in primary melanomas arising with/without associated naevi and determine BRAF(V600E) concordance between melanomas and associated naevi. Formalin fixed, paraffin embedded (FFPE) tissue from 57 patients with primary melanomas with/without associated naevi was immunohistochemically stained to detect BRAF(V600E) mutation. In a subset of patients (n?=?29), molecular mutation testing was also carried out using a panel of 238 known genetic variants. Of the primary melanomas with an associated naevus (n?=?29), 55% were BRAF(V600E) mutant with 100% concordance between the melanoma and associated naevus. In contrast, only 21% of the primary melanomas unassociated with naevi were BRAF(V600E) mutant (p?=?0.009).Our results suggest that melanomas with associated naevi have a higher frequency of BRAF(V600E) mutations than melanomas unassociated with naevi. Furthermore, melanomas and their associated naevi were concordant in BRAF(V600E) status, which suggests that false positive mutation tests occurring as a consequence of admixed BRAF mutant naevus cells in BRAF wild-type primary melanomas are unlikely to be a problem in clinical practice. The findings have important implications for adjuvant clinical trials of targeted therapies.
机译：令人担忧的是，BRAF突变的痣细胞与黑色素瘤细胞混合会在BRAF野生型黑色素瘤中引起假阳性突变测试。我们试图评估在伴有/不伴有相关naevi的原发性黑素瘤中BRAF（V600E）突变的频率，并确定黑素瘤与相关naevi之间的BRAF（V600E）一致性。对57例伴有或不伴有相关痣的原发性黑色素瘤患者的福尔马林固定，石蜡包埋（FFPE）组织进行免疫组织化学染色以检测BRAF（V600E）突变。在一部分患者中（n≥29），还使用一组238种已知的遗传变异进行了分子突变测试。在伴有痣的原发性黑色素瘤中（n≥29），55％是BRAF（V600E）突变体，黑素瘤与伴生的痣之间具有100％的一致性。相比之下，与naevi无关的原发性黑色素瘤中只有21％是BRAF（V600E）突变体（p？=？0.009）。 。此外，黑色素瘤及其相关的naevi在BRAF（V600E）状态上是一致的，这表明在BRAF野生型原发性黑色素瘤中由于混合了BRAF突变痣细胞而发生的假阳性突变测试在临床上不太可能成为问题。这些发现对靶向治疗的辅助临床试验具有重要意义。

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