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黑色素瘤中BRAF V600突变状态与细针穿刺抽吸标本的细胞学特征相关。

BRAF V600 Mutational Status in Melanoma Correlates with Cytologic Features in Fine-Needle Aspirate Specimens.

作者信息

Lee Paul J, Dennis Katie, Madan Rashna, Fan Fang

机构信息

Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA,

Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

出版信息

Acta Cytol. 2019;63(1):10-16. doi: 10.1159/000491814. Epub 2018 Nov 5.

Abstract

Melanomas are known as the great mimicker and must be considered in the differential diagnosis of any fine-needle aspirations (FNA). Despite recent advancements in understanding of the mutational landscape of melanomas, there still exists a divide between the genetic and morphologic correlates. A consecutive cohort of 39 FNA of clinically verified metastatic melanomas with concurrent BRAF V600 assessment were selected [positive (n = 18) and wild-type (n = 21)]. The melanoma cytology specimens were evaluated blinded to the BRAF mutation status in a dichotomized fashion for the presence of 8 selected morphologic classifiers. When comparing the BRAF-mutated vs. BRAF-wild type cohorts, the percentage of cases were, respectively: macronucleoli (56 and 52%), intranuclear inclusions (50 and 33%), pigment (44 and 24%), binucleation/multinucleation (78 and 57%), nuclear pleomorphism (72 and 67%), cytoplasmic vacuolization (22 and 29%), spindle cell morphology (61 and 29%), and necrosis (11 and 10%). The average age of the BRAF-mutated cohort was 52.2 years, compared to the BRAF wild-type cohort at 65.2 years. The prevalence of sex ratio and the location of the primary melanoma were matched between cohorts. Spindle cell morphology was more correlated with BRAF V600-mutated melanomas. Clinicians utilized the BRAF status to alter clinical decisions with use of BRAF inhibitors.

摘要

黑色素瘤被称为“超级模仿者”,在任何细针穿刺抽吸活检(FNA)的鉴别诊断中都必须予以考虑。尽管近年来在黑色素瘤突变图谱的理解方面取得了进展,但基因与形态学之间的关联仍存在分歧。我们选取了连续39例经临床验证的转移性黑色素瘤的FNA样本,并同时进行BRAF V600评估[阳性(n = 18)和野生型(n = 21)]。对黑色素瘤细胞学标本进行评估时,在不知BRAF突变状态的情况下,以二分法对8种选定的形态学分类指标进行检测。比较BRAF突变型与BRAF野生型队列时,各指标出现的病例百分比分别为:大核仁(56%和52%)、核内包涵体(50%和33%)、色素(44%和24%)、双核/多核(78%和57%)、核多形性(72%和67%)、细胞质空泡化(22%和29%)、梭形细胞形态(61%和29%)以及坏死(11%和10%)。BRAF突变型队列的平均年龄为52.2岁,而BRAF野生型队列为65.2岁。两个队列的性别比例和原发性黑色素瘤的位置分布相匹配。梭形细胞形态与BRAF V600突变型黑色素瘤的相关性更强。临床医生利用BRAF状态来调整使用BRAF抑制剂的临床决策。

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