New PLAG1-fusion transcripts in the spectrum of pediatric fibrotic, lipofibrotic, and mature lipomatous tumors.

IF 1.1 Q4 ONCOLOGY International journal of clinical and experimental pathology Pub Date : 2022-10-15 eCollection Date: 2022-01-01
Bernhard Theis, Ilmi Alhussami, Elke Kämmerer, Karim Kentouche, Christian Vokuhl, Nikolaus Gassler, Kathrin Katenkamp
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Abstract

The histomorphology of liboblastoma is highly variable and comprises different patterns that are found admixed or in pure form within a tumor. The most important features - mature lipomatous, fibrotic, lipofibrous, and myxoid - overlap with the histomorphology of several other pediatric tumor entities. Regarding the morphologic overlaps, molecular diagnostics with identification of fusion transcripts involving PLAG1 or HMGA2 is essential to identify lipoblastomas. This paper describes the diagnostic procedure in general and two new fusion transcripts of lipoblastoma, MEG3-PLAG1 and COL1A1-PLAG1. In conclusion, the algorithm to diagnose lipoblastomas among this group of pediatric fibrotic, lipofibrous and mature lipomatous tumors essentially includes histomorphology, immunohistochemistry, and molecular diagnostics.

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新的plag1融合转录物在儿童纤维化、脂肪纤维化和成熟脂肪瘤肿瘤的谱。
成脂细胞瘤的组织形态是高度可变的,包括不同的模式,在肿瘤中发现混合或纯形式。最重要的特征-成熟脂肪瘤,纤维化,脂肪纤维性和粘液样-与其他几种儿科肿瘤实体的组织形态学重叠。关于形态重叠,鉴定涉及PLAG1或HMGA2的融合转录物的分子诊断对于鉴定成脂细胞瘤至关重要。本文介绍了脂肪母细胞瘤的一般诊断程序和两种新的融合转录物MEG3-PLAG1和COL1A1-PLAG1。综上所述,在这组儿童纤维化、脂肪纤维性和成熟脂肪瘤性肿瘤中诊断成脂细胞瘤的算法基本上包括组织形态学、免疫组织化学和分子诊断。
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审稿时长
1 months
期刊介绍: The International Journal of Clinical and Experimental Pathology (IJCEP, ISSN 1936-2625) is a peer reviewed, open access online journal. It was founded in 2008 by an international group of academic pathologists and scientists who are devoted to the scientific exploration of human disease and the rapid dissemination of original data. Unlike most other open access online journals, IJCEP will keep all the traditional features of paper print that we are all familiar with, such as continuous volume and issue numbers, as well as continuous page numbers to keep our warm feelings towards an academic journal. Unlike most other open access online journals, IJCEP will keep all the traditional features of paper print that we are all familiar with, such as continuous volume and issue numbers, as well as continuous page numbers to keep our warm feelings towards an academic journal.
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