MAPK pathway alterations in polymorphous low-grade neuroepithelial tumor of the young: diagnostic considerations.

IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Brain Tumor Pathology Pub Date : 2024-10-01 Epub Date: 2024-08-18 DOI:10.1007/s10014-024-00487-8
Shilpa Rao, Aditi Goyal, Allen Johnson, Nishanth Sadashiva, Karthik Kulanthaivelu, Vikas Vazhayil, Vani Santosh
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Abstract

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently recognised tumor type with indolent behaviour with characteristic imaging and histomolecular features. We describe the clinical, imaging, histo-molecular features of 15 cases diagnosed as low-grade glioma suggestive of PLNTY, over a period of 3 years. Immunohistochemistry (IHC) and fluorescence in situ hybridisation were used to assess molecular alterations. The tumors were seen predominantly in children (range 5-65 years). Most of the patients presented with history of seizures. Imaging revealed cortical-subcortical well demarcated solid-cystic tumor with intratumoral calcification. Histopathology revealed a low-grade tumor with oligodendroglia-Iike cells admixed with astrocytic cells immunopositive for CD34. BRAF p.V600E mutations and FGFR2 breakapart were observed in six cases each, while three showed FGFR3 breakapart. FGFR2 breakapart positive PLNTY were seen in children exclusively. The majority of cases were seizure free post-surgery, except two patients who succumbed to the illness. PLNTY, needs to be considered as a prime differential diagnosis in a solid-cystic tumor in a young patient with history of seizures. Characteristic clinical features, radiology, histomorphology with an IHC panel of OLIG2, GFAP and CD34 correlates with one of the MAPK alterations in PLNTY (BRAF p.V600E, FGFR2/3 gene rearrangement). In a resource limited setting, this limited panel may be sufficient for a correlative diagnosis.

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多形性低级别幼年神经上皮肿瘤的 MAPK 通路改变:诊断考虑因素。
多形性低级别幼年神经上皮瘤(PLNTY)是最近才被确认的一种肿瘤类型,其症状不明显,具有特征性的影像学和组织分子特征。我们描述了 15 例被诊断为低级别胶质瘤并提示为 PLNTY 的病例的临床、影像学和组织分子特征,这些病例历时 3 年。免疫组化(IHC)和荧光原位杂交被用于评估分子改变。这些肿瘤主要见于儿童(5-65 岁)。大多数患者都有癫痫发作史。影像学检查发现皮质-皮质下分界清楚的实性囊性肿瘤,伴有瘤内钙化。组织病理学显示,这是一种低级别肿瘤,其中有少突胶质细胞和星形胶质细胞,CD34免疫阳性。六例患者均出现 BRAF p.V600E 突变和 FGFR2 分裂,三例出现 FGFR3 分裂。FGFR2 breakapart 阳性 PLNTY 仅见于儿童。除两名患者因病去世外,大多数病例在手术后都没有癫痫发作。对于有癫痫发作史的年轻患者,应将 PLNTY 作为实体-囊性肿瘤的主要鉴别诊断。其特征性临床特征、放射学、组织形态学与OLIG2、GFAP和CD34的IHC面板相关,与PLNTY中的一种MAPK改变(BRAF p.V600E、FGFR2/3基因重排)相关。在资源有限的情况下,这种有限的检测组合可能足以进行相关诊断。
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来源期刊
Brain Tumor Pathology
Brain Tumor Pathology 医学-病理学
CiteScore
5.40
自引率
9.10%
发文量
30
审稿时长
>12 weeks
期刊介绍: Brain Tumor Pathology is the official journal of the Japan Society of Brain Tumor Pathology. This international journal documents the latest research and topical debate in all clinical and experimental fields relating to brain tumors, especially brain tumor pathology. The journal has been published since 1983 and has been recognized worldwide as a unique journal of high quality. The journal welcomes the submission of manuscripts from any country. Membership in the society is not a prerequisite for submission. The journal publishes original articles, case reports, rapid short communications, instructional lectures, review articles, letters to the editor, and topics.Review articles and Topics may be recommended at the annual meeting of the Japan Society of Brain Tumor Pathology. All contributions should be aimed at promoting international scientific collaboration.
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