From FOS fusions to somatic mutations in the MAPK pathway, heterogeneous genetic abnormalities cause distinct pathophysiology among subsets of epithelioid haemangiomas.
From FOS fusions to somatic mutations in the MAPK pathway, heterogeneous genetic abnormalities cause distinct pathophysiology among subsets of epithelioid haemangiomas.
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DOI：
10.1111/bjd.20952
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发表时间：
2022-03
影响因子：
10.3
通讯作者：
Nelson, J. S.
中科院分区：
文献类型：
--
作者：
Tan, W.;Nelson, J. S.
上皮样血管瘤（EH）是一种罕见的良性血管肿瘤，包括突出的上皮样内皮细胞，发生在不同的解剖位置，包括软组织，骨骼和皮肤。1，2 EH可分为三个亚组：典型型、细胞型和血管淋巴样增生伴嗜酸性粒细胞增多症（ALHE），具有广泛的血管增生谱和炎性浸润。EH的遗传异常的新证据包括FOS重排和丝裂原活化蛋白激酶（MAPK）通路的体细胞突变。FOS基因在原发性高血压（EH）中的融合有多种类型，包括ZFP 36/FOSB、WWTR 1/FOSB、FOS/LMNA和FOS/Vim，这些基因的融合导致其转录本的连续过表达。3-5这些FOS重排常见于软组织和骨内病变，但在皮肤EH中非常罕见。3，6此外，在缺乏FOS融合的EH亚组中报告了GATA 6/FOXO 1融合。7
Epithelioid haemangioma (EH) is a rare benign vascular tumour comprised of prominent epithelioid endothelial cells, occurring at diverse anatomical locations including soft tissues, bone and skin. 1, 2 EH can be categorized into three subsets: typical, cellular, and angiolymphoid hyperplasia with eosinophilia (ALHE), with a wide range of vasoproliferative spectra and inflammatory infiltrates. The emerging evidence of genetic abnormalities in EH includes FOS rearrangements and somatic mutations in the mitogenactivated protein kinase (MAPK) pathway. This has greatly enhanced our understanding of the aetiology of this disease and facilitated molecular differential diagnosis from malignant epithelioid vascular tumours such as epithelioid haemangioendothelioma and angiosarcoma.There are several types of FOS gene fusions reported in EH, including ZFP36/FOSB, WWTR1/FOSB, FOS/LMNA and FOS/VIM, which lead to consecutive overexpression of their transcripts. 3–5 These FOS rearrangements are commonly found in soft tissue and intraosseous lesions, but are very infrequent in cutaneous EH. 3, 6 In addition, a fusion of GATA6/FOXO1 was reported in a subset of EH lacking FOS fusions. 7
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DOI：
10.1038/s41379-020-0505-4
发表时间：
2020-08
期刊：
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
影响因子：
--
作者：
Luzar B;Ieremia E;Antonescu CR;Zhang L;Calonje E
通讯作者：
Calonje E
影响因子：
3.7
作者：
Antonescu, Cristina R.;Chen, Hsiao-Wei;Fletcher, Christopher D.
通讯作者：
Fletcher, Christopher D.
含有 FOS 和 FOSB 基因重排的骨上皮样血管瘤：临床病理学和分子研究。
DOI：
10.1002/gcc.22898
发表时间：
2021-01
期刊：
Genes, chromosomes & cancer
影响因子：
--
作者：
Tsuda Y;Suurmeijer AJH;Sung YS;Zhang L;Healey JH;Antonescu CR
通讯作者：
Antonescu CR
影响因子：
10.3
作者：
WELLS, GC;WHIMSTER, IW
通讯作者：
WHIMSTER, IW
DOI：
10.1038/s41379-020-00723-4
发表时间：
2021-05
期刊：
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
影响因子：
--
作者：
Antonescu CR;Huang SC;Sung YS;Zhang L;Helmke BM;Kirchner M;Stenzinger A;Mechtersheimer G
通讯作者：
Mechtersheimer G