PRKC融合型黑素细胞瘤是黑素细胞瘤的一个亚群,它与蓝色痣的关系比与PRKAR1A失活的色素上皮样黑素细胞瘤的关系更为密切。

IF 4.5 1区 医学 Q1 PATHOLOGY American Journal of Surgical Pathology Pub Date : 2024-11-01 Epub Date: 2024-06-12 DOI:10.1097/PAS.0000000000002262
Pragi Patel, Alice Chen, Natasha Sharma, Yongzhan Zhang, Victor L Quan, Shantel Olivares, Pedram Gerami
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引用次数: 0

摘要

形态上被归类为色素上皮样黑素细胞瘤(PEMs)的肿瘤在基因组上多种多样,最常见的两种基因组亚型是PRKC融合或PRKAR1A失活突变。PRKC 融合会激活 Gαq/11 通路,与蓝痣类似。相反,PRKAR1A 的失活突变会激活 Gαs 通路。我们假设,与 PRKAR1A 失活的 PEMs 相比,PRKC 融合体与蓝痣的基因组重叠程度更高。我们描述了 21 例 PRKC 和 PRKACB 融合型黑素细胞瘤的临床和形态特征,并将其与 PRKAR1A 突变的 PEMs 进行了比较。为了验证我们的假设,即相对于 PRKAR1A 突变的 PEMs,PRKC 融合痣和蓝痣之间的基因组重叠程度更高,我们使用 mRNA 表达数据进行了主成分分析 (PCA)。最后,我们对 PRKC 融合的结果数据进行了荟萃分析。与 PRKAR1A 突变的 PEMs 相比,PRKC 融合发生的中位年龄更小(16 岁对 27 岁)。从组织学角度看,PRKC 融合型上皮样黑素细胞呈实性聚集,这与 PRKAR1A 突变的 PEMs 并不典型。PCA 图显示,PRKC 融合组与 PRKAR1A 突变的 PEM 之间没有重叠。PRKC融合组与蓝痣组之间有明显重叠。文献中对PRKC融合病例的荟萃分析表明,黑色素瘤并不常见,但BAP-1核表达的缺失可能与不良预后有关,正如蓝痣家族的肿瘤一样。与 PRKAR1A 突变的 PEMs 相比,PRKC 融合型黑素细胞瘤与蓝痣的基因组重叠程度更高。我们建议将良性PRKC融合黑素细胞瘤归类为蓝融合痣/瘤。
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PRKC Fusion Melanocytic Tumors, a Subgroup of Melanocytic Tumors More Closely Aligned to Blue Nevi Than to PRKAR1A-inactivated Pigmented Epithelioid Melanocytomas.

Tumors morphologically classified as pigmented epithelioid melanocytomas (PEMs) are genomically diverse, with the 2 most common genomic subtypes being PRKC fusions or PRKAR1A inactivating mutations. PRKC fusions activate the Gα q/11 pathway similar to blue nevi. Conversely, inactivating mutations in PRKAR1A activate the Gα s pathway. We hypothesize that PRKC fusions have greater genomic overlap with blue nevi compared with PRKAR1A-inactivated PEMs. We characterized the clinical and morphologic features of 21 PRKC and PRKACB fusion melanocytic tumors and compared this to PRKAR1A mutated PEMs. To test our hypothesis regarding greater genomic overlap between PRKC fusions and blue nevi relative to PRKAR1A mutated PEMs, we performed a principal component analysis (PCA) using mRNA expression data. Lastly, we performed a meta-analysis focusing on the outcome data of PRKC fusions. PRKC fusions occur at a younger median age than PRKAR1A mutated PEMs (16 vs. 27). Histologically, PRKC fusions have solid aggregates of epithelioid melanocytes not typical of PRKAR1A mutated PEMs. The PCA plot showed no overlap between the PRKC fusion group and the PRKAR1A-mutated PEMs. There was a significant overlap between PRKC fusions and blue nevi. A meta-analysis of PRKC fusion cases in the literature suggests melanoma is uncommon, but the loss of BAP-1 nuclear expression may be associated with an adverse prognosis as in tumors from the blue nevus family. PRKC fusion melanocytic tumors have greater genomic overlap with blue nevi compared with PRKAR1A mutated PEMs. We recommend categorizing benign PRKC fusion melanocytic tumors as blue fusion nevi/tumors.

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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
期刊最新文献
A High-grade PML::JAK1 Fusion Sarcoma. Papillary Intralymphatic Angioendothelioma Versus Splenic Lymphatic Malformation With Papillary Endothelial Proliferation: Different Terms for the Same Entity. Biomarker Testing in Microinvasive Carcinoma of the Breast. Multifocal Papillary Thyroid Carcinomas With Discordant Molecular Drivers: Emphasizing the Morphology and Collision Tumors. PRKC Fusion Melanocytic Tumors, a Subgroup of Melanocytic Tumors More Closely Aligned to Blue Nevi Than to PRKAR1A-inactivated Pigmented Epithelioid Melanocytomas.
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