BRAF突变和形态上是斯皮茨瘤,一种难以区分于真斯皮茨瘤的黑色细胞瘤子组
Pedram Gerami1, Alice Chen1, Natasha Sharma1
1Department of Dermatology, Feinberg School of Medicine, Northwestern University.
The American journal of surgical pathology
|March 25, 2024
概括
发生BRAF突变的和形态上是spitzoid (BAMS) 的瘤可能与Spitz瘤 (STs) 非常相似. 即使是专家病理学家也很难将BAMS与真正的ST区分开来,这突出了黑色细胞新生病的诊断挑战.
科学领域:
- 皮肤病理学 皮肤病理学
- 在瘤学瘤学.
- 遗传学 遗传学是一种遗传学.
背景情况:
- 斯皮茨瘤 (STs) 通常是由HRAS突变或斯皮茨相关的基因组融合驱动的.
- 发生BRAF突变的黑色细胞瘤可以表现出模仿ST的形态特征,称为BRAF突变和形态形 (BAMS).
- 准确区分BAMS和ST对于适当的临床管理至关重要.
研究的目的:
- 评估专家病理学家之间的诊断准确性和观察者之间的协议,以区分BAMS和真正的STs.
- 评估BAMS和ST之间的形态重叠.
- 为了确定BAMS是否可以根据形态学单独可靠地与ST区分.
主要方法:
- 54个病例 (40个BAMS,14个真正的ST) 被17名专家黑色素瘤病理学家审查.
- 病理学家评估了盲目对基因组数据的病例,选择了包括BAMS,ST,黑色素瘤等在内的诊断.
- 使用kappa统计数据量化了观察者之间的一致性.
主要成果:
- 病理学家支持在32%的BAMS病例中诊断ST,而BAMS仅在38%的BAMS病例中诊断ST.
- 在ST投票率最高的案件中,一半是BAMS.
- 对准确诊断BAMS的观察者间一致性较差 (kappa = 0.16),但对它们不是黑色素瘤 (kappa = 0.7) 的一致性很好.
结论:
- BRAF突变和形态上是斯皮茨形 (BAMS) 的病变经常模仿真正的斯皮茨瘤 (STs).
- 专家病理学家在形态上区分BAMS和STs方面表现出显著的困难,近一半的BAMS病例被认为是STs.
- 这些发现强调了BAMS所带来的诊断挑战以及综合临床病理学和分子评估的必要性.
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