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Supratentorial multifocal gliomas associated with Ollier disease harboring IDH1 R132H mutation: A case report. 与携带IDH1 R132H突变的奥利尔病相关的肿瘤上多灶性胶质瘤:一例报告。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-03-20 DOI: 10.1111/neup.12902
Hiroshi Ikeda, Shigeru Yamaguchi, Yukitomo Ishi, Kento Wakabayashi, Ai Shimizu, Hiromi Kanno-Okada, Takeshi Endo, Mitsutoshi Ota, Michinari Okamoto, Hiroaki Motegi, Norimasa Iwasaki, Miki Fujimura

Somatic mosaicism of isocitrate dehydrogenase 1/2 (IDH1/2) mutation is a cause of Ollier disease (OD), characterized by multiple enchondromatosis. A 35-year-old woman who was diagnosed with OD at age 24 underwent resection surgery for multifocal tumors located at the right and left frontal lobes that were discovered incidentally. No apparent spatial connection was observed on preoperative magnetic resonance imaging. Pathological examinations revealed tumor cells with a perinuclear halo in the left frontal lobe tumor, whereas astrocytic tumor cells were observed in the right frontal lobe tumor. Based on positive IDH1 R132H immunostaining and the result of 1p/19q fluorescent in situ hybridization, pathological diagnoses were IDH mutant and 1p/19q-codeleted oligodendroglioma in the right frontal lobe tumor and IDH mutant astrocytoma in the left frontal lobe tumor, respectively. The DNA sequencing revealed IDH1 R132H mutation in the peripheral blood sample and frontal lobe tumors. This case suggested that in patients with OD, astrocytoma and oligodendroglioma can co-occur within the same individual simultaneously, and IDH1 R132H mutation was associated with supratentorial development of gliomas.

异柠檬酸脱氢酶1/2(IDH1/2)突变的体细胞嵌合体是奥利尔病(OD)的一个原因,其特征是多发性软骨瘤。一名35岁的女性在24岁时被诊断为OD,她接受了位于左右额叶的多灶性肿瘤的切除手术,这些肿瘤是偶然发现的。术前磁共振成像未观察到明显的空间联系。病理检查显示左额叶肿瘤中有核周晕的肿瘤细胞,而右额叶肿瘤中观察到星形细胞肿瘤细胞。根据阳性的IDH1R132H免疫染色和1p/19q荧光原位杂交结果,病理诊断分别为右额叶肿瘤中的IDH突变型和1p/19-q编码的少突胶质瘤和左额叶肿瘤中IDH突变的星形细胞瘤。DNA测序显示外周血样本和额叶肿瘤中存在IDH1 R132H突变。该病例表明,在OD患者中,星形细胞瘤和少突胶质瘤可以同时发生在同一个体内,IDH1 R132H突变与胶质瘤的幕上发展有关。
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引用次数: 0
An autopsy case of progressive multifocal leukoencephalopathy with massive iron deposition in juxtacortical lesions. 一例进行性多灶性白质脑病的尸检病例,病变旁有大量铁沉积。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-02-27 DOI: 10.1111/neup.12898
Kosuke Okamoto, Akitoshi Takeda, Hiroyuki Hatsuta, Terunori Sano, Masaki Takao, Masahiko Ohsawa, Yukio Miki, Kazuo Nakamichi, Yoshiaki Itoh

Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease caused by JC virus infection of oligodendrocytes. Little has been reported on iron deposits in patients with PML. Herein, we report a case of PML with massive iron deposition in the juxtacortical regions attaching white matter lesions in a 71-year-old woman who developed bilateral visual disturbance and progressive aphasia after 16 months of rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisolone treatment for follicular lymphoma. Magnetic resonance imaging revealed white matter lesions in the left parietal and other lobes with massive iron deposition in the juxtacortical lesions. A PCR test for JC virus was positive, confirming the diagnosis of PML. Despite treatment with mefloquine and mirtazapine, the patient died six months later. At autopsy, demyelination was found dominantly in the left parietal lobe. Moreover, hemosiderin-laden macrophages and reactive astrocytes containing ferritin were abundant in the juxtacortical regions adjacent to the white matter lesions. This is a previously unreported case of PML after lymphoma, in which iron deposition was confirmed both radiologically and pathologically.

进行性多灶性白质脑病(PML)是由少突胶质细胞感染JC病毒引起的严重脱髓鞘疾病。关于PML患者铁沉积的报道很少。在此,我们报告了一例PML患者,该患者在16岁后出现双侧视觉障碍和进行性失语症 数月的利妥昔单抗加环磷酰胺、阿霉素、长春新碱和泼尼松治疗滤泡性淋巴瘤。磁共振成像显示左顶叶和其他叶有白质病变,边缘病变有大量铁沉积。JC病毒的PCR检测呈阳性,证实了PML的诊断。尽管使用了甲氟喹和米氮平治疗,患者仍有6人死亡 几个月后。尸检发现脱髓鞘主要发生在左顶叶。此外,含含铁血黄素的巨噬细胞和含铁蛋白的反应性星形胶质细胞在白质病变附近的边缘区域大量存在。这是一个以前未报道的淋巴瘤后PML病例,其中铁沉积在放射学和病理学上都得到了证实。
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引用次数: 0
Lymphomatosis cerebri with coexistent anti-N-methyl-D-aspartate receptor antibody: A case report. 同时存在抗N-甲基-D-天冬氨酸受体抗体的脑淋巴瘤1例报告。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-02-22 DOI: 10.1111/neup.12899
Natthapon Rattanathamsakul, Tatchaporn Ongphichetmetha, Pattharasaya Weerachotisakul, Nanthaya Tisavipat, Pornsuk Cheunsuchon, Jiraporn Jitprapaikulsan

Diagnosis of lymphomatosis cerebri (LC) is usually delayed because of its rarity and the need for pathological confirmation. The association of LC with humoral immunity has scarcely been reported. Herein, we present a woman with a 2-week history of dizziness and gait ataxia, followed by diplopia, altered mental status, and spasticity of all limbs. Magnetic resonance imaging (MRI) of the brain showed multifocal lesions involving bilateral subcortical white matter, deep gray structures, and brainstem. Oligoclonal bands and anti-N-methyl-D-aspartate receptor (NMDAR) antibodies were present in cerebrospinal fluid (CSF) twice. She was initially treated with methylprednisolone but still worsening. A stereotactic brain biopsy confirmed the diagnosis of LC. This is a report on the distinctive coexistence of the rare CNS lymphoma variant and the anti-NMDAR antibody.

大脑淋巴瘤病(LC)的诊断通常因其罕见性和需要病理证实而延迟。LC与体液免疫的关系几乎没有报道。在此,我们介绍了一位有两周头晕和步态共济失调病史的女性,随后出现复视、精神状态改变和四肢痉挛。大脑磁共振成像(MRI)显示多灶性病变,涉及双侧皮质下白质、深灰色结构和脑干。脑脊液中出现两次寡克隆带和抗N-甲基-D-天冬氨酸受体(NMDAR)抗体。她最初接受了甲基强的松龙治疗,但病情仍在恶化。立体定向脑活检证实了LC的诊断。这是一份关于罕见中枢神经系统淋巴瘤变体和抗NMDAR抗体独特共存的报告。
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引用次数: 0
Pilocytic astrocytoma harboring a novel GNAI3-BRAF fusion. 毛细胞星形细胞瘤携带一种新的GNAI3-BRAF融合。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-02-14 DOI: 10.1111/neup.12896
Ruihe Lin, Alicia Kenyon, Zi-Xuan Wang, Jingli Cai, Lorraine Iacovitti, Lawrence C Kenyon

Pilocytic astrocytoma (PA), a central nervous system (CNS) World Health Organization grade 1 tumor, is mainly seen in children or young adults aged 5-19. Surgical resection often provides excellent outcomes, but residual tumors may still remain. This low-grade tumor is well recognized for its classic radiological and morphological features; however, some unique molecular findings have been unveiled by the application of next-generation sequencing (NGS). Among the genetic abnormalities identified in this low-grade tumor, increasing evidence indicates that BRAF alterations, especially BRAF fusions, play an essential role in PA tumorigenesis. Among the several fusion partner genes identified in PAs, KIAA1549-BRAF fusion is notably the most common detectable genetic alteration, especially in the cerebellar PAs. Here, we report a case of a young adult patient with a large, right-sided posterior fossa cerebellar and cerebellopontine angle region mass consistent with a PA. Of note, NGS detected a novel GNAI3-BRAF fusion, which results in an in-frame fusion protein containing the kinase domain of BRAF. This finding expands the knowledge of BRAF fusions in the tumorigenesis of PAs, provides an additional molecular signature for diagnosis, and a target for future therapy.

毛细胞星形细胞瘤(PA)是世界卫生组织的一种中枢神经系统(CNS)1级肿瘤,主要见于5-19岁的儿童或年轻人。手术切除通常能提供良好的结果,但残留的肿瘤可能仍然存在。这种低级别肿瘤因其典型的放射学和形态学特征而被公认;然而,下一代测序(NGS)的应用已经揭示了一些独特的分子发现。在这种低级别肿瘤中发现的遗传异常中,越来越多的证据表明BRAF改变,特别是BRAF融合,在PA肿瘤发生中起着重要作用。在PA中鉴定的几种融合伴侣基因中,KIAA1549-BRAF融合是最常见的可检测基因改变,尤其是在小脑PA中。在这里,我们报告了一例年轻成年患者,其右侧小脑后窝和桥小脑角区域的大肿块与PA一致。值得注意的是,NGS检测到了一种新的GNAI3-BRAF融合,其产生了一种含有BRAF激酶结构域的帧内融合蛋白。这一发现扩展了BRAF融合在PAs肿瘤发生中的知识,为诊断提供了额外的分子特征,并为未来的治疗提供了靶点。
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引用次数: 0
A case of "genetically defined" radiation-induced glioma: 29 years after surgery and radiation for pilocytic astrocytoma. 一例“基因定义”的放射性神经胶质瘤:29 毛细胞星形细胞瘤手术和放疗后数年。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-03-22 DOI: 10.1111/neup.12903
Kenta Masui, Masayuki Nitta, Yoshihiro Muragaki, Takakazu Kawamata, Kaishi Satomi, Yuko Matsushita, Akihiko Yoshida, Koichi Ichimura, Masumi Tsuda, Shinya Tanaka, Takashi Komori
Radiation-induced gliomas (RIGs), which occur in a previously irradiated region of the original tumor, represent a rare but well-characterized clinical entity. They are particularly represented as secondary malignancies after irradiation for medulloblastoma (MB) and acute lymphoblastic leukemia (ALL). Clinically well recognized, their genetic characteristics have remained unclear, but recent molecular studies revealed their unifying molecular signature for the receptor tyrosine kinase 1 (RTK1) glioblastoma (GBM) subtype. We present a case of RIG that emerged 29 years after surgery and radiation for pilocytic astrocytoma (PA); the distinctive molecular features of RIGs enabled its differentiation from malignant transformation of PA. All methods and protocols related to human subjects were approved by each institution’s review board ethics committee, and the investigations were carried out in accordance with each institution’s review board-approved protocol and Declaration of Helsinki of 2013. A 33-year-old woman had a history of subtotal resection of the right temporal lobe tumor at age 3. The histopathological diagnosis of the tumor was PA, and local radiation was performed for the residual lesion with parallel opposing fields of linear accelerator (LINAC), including right temporal and frontal lobes. She presented with nausea and headache 29 years later after radiation therapy, and magnetic resonance imaging (MRI) revealed an approximately 4-cm mass with ring enhancement within the irradiated region of the right frontal lobe (Fig. 1A). The patient underwent total resection of the tumor. Histologically, the tumor showed fascicular streaming of short-spindle, astrocytic tumor cells (Fig. 1B). They displayed immunoreactivity for glial markers, including glial fibrillary acidic protein (GFAP) (mouse monoclonal, clone 6F2; Dako, Glostrup, Denmark; 1:1000) and OLIG2 (rabbit polyclonal; IBL, Gunma, Japan; 1:200). The presence of palisading necrosis and microvascular proliferation suggested high-grade astrocytic tumors, including GBM induced by radiation (Fig. 1B). Molecular testing was performed by immunohistochemistry, reverse transcription-polymerase chain reaction (RTPCR), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and 850 K methylation array (Infinium Methylation EPIC, Illumina), using samples from formalin-fixed paraffin-embedded (FFPE) or snap-frozen tissue. The tumor was negative for IDH1 p.R132H (mouse monoclonal, clone DIA-H09; Dianova, Hamburg, Germany; 1:500) and p53 (mouse monoclonal, clone DO-7; Nichirei Biosciences, Tokyo, Japan; pre-diluted), and alpha thalassemia/mental retardation syndrome X-linked (ATRX) (rabbit monoclonal, clone E5X7O; Cell Signaling, Danvers, MA; 1:1000) immunoreactivity was lost (Fig. 1B). Ki-67-positive ratio (mouse monoclonal, clone MIB-1; Dako; 1:500) was 20% (Fig. 1B), and MGMT promoter was unmethylated. KIAA1549::BRAF fusion was not detected by RT-PCR (Fig. S1B). Direct sequenci
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引用次数: 1
Astrocytoma (CNS WHO grade 4), IDH-mutant with co-occurrence of BRAF p.V600E mutation, and homozygous loss of CDKN2A. 星形细胞瘤(中枢神经系统世界卫生组织4级),IDH突变伴BRAF p.V600E突变和CDKN2A纯合缺失。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-02-08 DOI: 10.1111/neup.12895
Henning Leske, Hanne Blakstad, Marius Lund-Iversen, Else Kathrine Skovholt, Pitt Niehusmann, Jon-Terje Ramm-Pettersen, Karoline Skogen, Geir Kongelf, Mette Sprauten, Henriette Magelssen, Petter Brandal

Molecular alterations nowadays play a crucial role in the diagnosis of brain tumors. Some of these alterations are associated with outcome and/or response to treatment, including sequence variants of isocitrate dehydrogenase (IDH) at position p.R132 or p.R172. Such IDH variants have so far been described in histone H3-wildtype primary brain tumors only in adult-type diffuse gliomas and are associated with a better outcome compared to their IDH-wildtype counterpart, the glioblastoma. Moreover, homozygous loss of CDKN2A and/or CDKN2B in IDH-mutant astrocytomas shortens the median overall survival regardless of histological features of malignancy. Such tumors are therefore considered to be aggressive and graded as WHO central nervous system (CNS) grade 4 lesions. The coexistence of an IDH-sequence variation and a BRAF p.V600E alteration has only rarely been described in diffuse astrocytomas. Due to the small number of cases, little is known about such neoplasms in terms of clinical behavior and response to treatment. Herein we describe the first case, to our knowledge, of an astrocytoma (CNS WHO grade 4), IDH-mutant, and BRAF p.V600E-mutant with homozygous deletion of CDKN2A. Pathologists should be aware that such an expression profile does exist even in WHO CNS grade 4 astrocytomas, IDH-mutant, and are encouraged to test for the BRAF p.V600E sequence variant as such an alteration may provide additional treatment options.

如今,分子改变在脑肿瘤的诊断中起着至关重要的作用。其中一些改变与治疗的结果和/或反应有关,包括p.R132或p.R172位置的异柠檬酸脱氢酶(IDH)的序列变异。到目前为止,这种IDH变体在组蛋白H3野生型原发性脑肿瘤中仅在成人型弥漫性胶质瘤中被描述,并且与IDH野生型对应物胶质母细胞瘤相比,与更好的结果相关。此外,无论恶性肿瘤的组织学特征如何,IDH突变星形细胞瘤中CDKN2A和/或CDKN2B的纯合缺失都会缩短中位总生存率。因此,这种肿瘤被认为是侵袭性的,并被评为世界卫生组织中枢神经系统(CNS)4级病变。在弥漫性星形细胞瘤中,IDH序列变异和BRAF p.V600E改变共存的情况很少被描述。由于病例数量较少,对此类肿瘤的临床行为和治疗反应知之甚少。据我们所知,在本文中,我们描述了第一例星形细胞瘤(CNS世界卫生组织4级)、IDH突变体和BRAF p.V600E突变体,CDKN2A纯合缺失。病理学家应该意识到,即使在世界卫生组织中枢神经系统4级星形细胞瘤(IDH突变型)中也存在这种表达谱,并鼓励检测BRAF p.V600E序列变体,因为这种改变可能提供额外的治疗选择。
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引用次数: 1
Expanded ischemic lesion due to herniation leads to axonal injury in a site remote to the primary lesion on autopsy brain with acute focal cerebral ischemia. 急性局灶性脑缺血尸检大脑中,由于疝引起的扩大性缺血性病变导致远离原发病变的轴突损伤。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-10-01 Epub Date: 2023-02-28 DOI: 10.1111/neup.12900
Erika Seki, Takashi Komori, Nobutaka Arai

Cerebral ischemia may lead to axonal injury not only at the site of the primary lesion but also in a region remote to the site of insult. In this study, we investigated the effect of herniation on the development of axonal injury at a site remote to the primary lesion during the acute phase of cerebral ischemia. We obtained postmortem brains of 13 cases with acute phase of unilateral cerebral infarction in the territory of the internal carotid artery or middle cerebral artery and seven controls. We classified the brain tissues into herniation and non-herniation groups. Then we examined whether axonal and ischemic changes existed in the corpus callosum contralateral to the ischemic hemisphere and the upper pons. In the herniation group, we detected white-matter lesions by Klüver-Barrera staining, microglial loss by immunohistochemistry for ionized calcium-binding adaptor molecule 1, and axonal injury by immunohistochemistry for amyloid precursor protein. However, none of the aforementioned findings were observed in the non-herniation group. These findings suggest the existence of regional overlap in axonal and ischemic pathologies in remote regions in the presence of herniation. We concluded that herniation may play a significant role in the development of axonal and ischemic changes in the remote region. Our results suggest that axonal injury in a remote region may result from expanded ischemic lesions due to herniation.

脑缺血不仅可能导致原发病变部位的轴突损伤,而且可能导致远离损伤部位的区域的轴突损伤。在这项研究中,我们研究了脑缺血急性期脑疝对远离原发病变部位轴突损伤发展的影响。我们获得了13例颈内动脉或大脑中动脉区域单侧脑梗死急性期患者和7名对照者的死后大脑。我们将脑组织分为脑疝组和非脑疝组。然后,我们检查了缺血性半球对侧的胼胝体和上桥脑是否存在轴突和缺血性变化。在疝症组中,我们通过Klüver-Barrera染色检测白质病变,通过免疫组织化学检测电离钙结合接头分子1的小胶质细胞损失,通过免疫组化检测淀粉样蛋白前体蛋白的轴突损伤。然而,在非脑疝组中没有观察到上述发现。这些发现表明,在存在疝的偏远地区,轴突和缺血性病理存在区域重叠。我们得出结论,疝可能在远端区域轴突和缺血性变化的发展中发挥重要作用。我们的研究结果表明,偏远地区的轴突损伤可能是由疝引起的缺血性病变扩大引起的。
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引用次数: 0
Low-grade B-cell lymphoma of the central nervous system with plasmacytic differentiation and amyloid deposition. 伴有浆细胞分化和淀粉样蛋白沉积的中枢神经系统低级别b细胞淋巴瘤。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 DOI: 10.1111/neup.12886
Gianluca Lopez, Karam Han, Shino D Magaki, Sophie X Song, Noriko Salamon, Kanwarpal S Kahlon, Inna Keselman, Ausaf A Bari, Harry V Vinters

A 65-year-old woman with a resolved history of epilepsy due to a motor vehicle accident and hippocampal sclerosis presented with recurrent de novo seizures. Brain imaging demonstrated enhancement in the left parieto-occipital lobe. At histopathological examination, the lesion displayed a diffuse lymphoid infiltrate comprised of small atypical lymphocytes, plasmacytoid lymphocytes, and scattered plasma cells with amyloid deposition. Pathology workup demonstrated a monotypic B-cell phenotype of the lymphoid infiltrate, expressing lambda light chain restriction and plasmacytic differentiation without MYD88 mutations. The patient had no systemic evidence of lymphoma, plasma cell dyscrasia, or amyloidosis. A diagnosis of low-grade B-cell lymphoma of the central nervous system with plasmacytic differentiation and amyloid deposition was made.

65岁女性,因机动车事故和海马硬化症而有癫痫史,现复发性癫痫发作。脑成像显示左侧顶枕叶增强。组织病理学检查显示,病变呈弥漫性淋巴浸润,包括小的非典型淋巴细胞、浆细胞样淋巴细胞和散在的浆细胞伴淀粉样沉积。病理检查显示淋巴浸润的单型b细胞表型,表达lambda轻链限制和浆细胞分化,无MYD88突变。患者无系统性淋巴瘤、浆细胞病变或淀粉样变性的证据。诊断为中枢神经系统低级别b细胞淋巴瘤,伴浆细胞分化和淀粉样蛋白沉积。
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引用次数: 0
Midline brain hamartomatous lesions in fibrodysplasia ossificans progressiva with ACVR1 mutations. 伴有ACVR1突变的进行性骨化纤维发育不良患者中线脑错构瘤病变。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 DOI: 10.1111/neup.12892
Jesse Lee Kresak, Meggen Walsh, Anthony Tuzzolo, Zehra Ordulu, Jason Gregory

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by extensive heterotopic ossification of soft tissue structures leading to severe limitations in movement. FOP is caused by a germline mutation in the activating receptor type IA (ACVR1) gene. Worrisome is the fact that up to a third of diffuse intrinsic pontine gliomas (DIPG) also harbor the same point mutation in ACVR1. Radiological reports of central nervous system (CNS) involvement by FOP have described brainstem masses; however, the literature on the histopathology or pathogenesis of these lesions is scant. Here we present detailed neuropathologic findings of a brainstem mass in a patient with FOP and suggest that the tumor is hamartomatous in nature. This report, along with a literature review of radiographic and laboratory data, offers support for the idea that the ACVR1 mutation may incite CNS proliferation, predominantly in the brainstem, but is probably not an oncologic driver. These lesions may be seen at autopsy and are likely noncontributory to death.

进行性骨化纤维发育不良(FOP)是一种罕见的遗传性疾病,其特征是软组织结构广泛异位骨化,导致严重的运动限制。FOP是由激活受体IA型(ACVR1)基因的种系突变引起的。令人担忧的事实是,多达三分之一的弥漫性内生性脑桥胶质瘤(DIPG)也含有相同的ACVR1点突变。FOP累及中枢神经系统(CNS)的影像学报告描述了脑干肿块;然而,关于这些病变的组织病理学或发病机制的文献很少。在此,我们报告一例FOP患者脑干肿块的详细神经病理学表现,并提示该肿瘤本质上是错构瘤。该报告,以及对放射学和实验室数据的文献回顾,支持了ACVR1突变可能刺激中枢神经系统增殖的观点,主要是在脑干,但可能不是肿瘤驱动因素。这些病变可在尸检时发现,可能与死亡无关。
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引用次数: 0
Pediatric and elderly polymorphous low-grade neuroepithelial tumor of the young: Typical and unusual case reports and literature review. 儿童和老年人多形低级别神经上皮肿瘤:典型和不寻常的病例报告和文献复习。
IF 2.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2023-08-01 DOI: 10.1111/neup.12889
Takuya Furuta, Mayuko Moritsubo, Hiroko Muta, Hotetsu Shimamoto, Koichi Ohshima, Yasuo Sugita

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY), one of the pediatric-type diffuse low-grade gliomas, is characterized by a diffuse infiltrating pattern of oligodendroglioma-like tumor cells showing CD34 positivity and harbors mitogen-activated protein kinase (MAPK) alteration, such as vRAF murine sarcoma viral oncogene homolog B1 (BRAF) p.V600E or fibroblast growth factor fusion genetically. It occurs mainly in pediatric and adolescents with seizures due to the dominant location of the temporal lobe. However, there have been a few cases of PLNTY in adult patients, suggesting the wide range of this tumor spectrum. Here, we describe two cases of PLNTY, one in a 14-year-old female and the other in a 66-year-old female. The pediatric tumor showed typical clinical course and histopathology with BRAF p.V600E mutation, whereas the elderly tumor was unusual because of non-epileptic onset clinically and ependymal differentiation histopathologically harboring KIAA1549-BRAF fusion. There might be unusual but possible PLNTY, as in our elderly case. We also compared typical pediatric and unusual elderly tumors by reviewing the literature.

多形性低级别神经上皮肿瘤(PLNTY)是儿童型弥漫性低级别神经胶质瘤之一,其特征是少突胶质细胞样肿瘤细胞呈弥漫性浸润模式,CD34阳性,含有丝裂原活化蛋白激酶(MAPK)改变,如vRAF鼠肉瘤病毒癌基因同源物B1 (BRAF) p.V600E或成纤维细胞生长因子基因融合。它主要发生在儿童和青少年癫痫发作,由于颞叶的主要位置。然而,在成年患者中也有少数PLNTY病例,这表明这种肿瘤的范围很广。在这里,我们描述了两个PLNTY病例,一个发生在14岁的女性,另一个发生在66岁的女性。儿童肿瘤表现为典型的BRAF p.V600E突变的临床病程和组织病理学,而老年肿瘤则因临床非癫痫性发病和室管膜分化组织病理学上存在KIAA1549-BRAF融合而不常见。可能是不寻常的,但也可能是大量的,就像我们这位老人的情况一样。我们也通过回顾文献比较了典型的儿科和不寻常的老年肿瘤。
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引用次数: 2
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Neuropathology
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