Brain Pathology最新文献

{"title":"Spinal intradural pseudocyst formation in central nervous system superficial siderosis","authors":"Kiyoshi Ito,&nbsp;Mitsunori Yamada,&nbsp;Kai Uehara,&nbsp;Yusuke Takahashi,&nbsp;Minori Kodaira,&nbsp;Yoshiki Sekijima,&nbsp;Yasuko Toyoshima,&nbsp;Akiyoshi Kakita,&nbsp;Kunihiko Makino,&nbsp;Hiroki Ohashi,&nbsp;Kazuhiro Hongo,&nbsp;Tetsuyoshi Horiuchi","doi":"10.1111/bpa.13269","DOIUrl":"10.1111/bpa.13269","url":null,"abstract":"<p>The figure shows tissue samples taken from three previous cases, revealing the cause of hemosiderin deposition in the central nervous system because of superficial siderosis.\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 6","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13269","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140896472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibrillar extracellular matrix produced by pericyte-like cells facilitates glioma cell dissemination","authors":"Petr Vymola,&nbsp;Elena Garcia-Borja,&nbsp;Jakub Cervenka,&nbsp;Eva Balaziova,&nbsp;Barbora Vymolova,&nbsp;Jana Veprkova,&nbsp;Petr Vodicka,&nbsp;Helena Skalnikova,&nbsp;Robert Tomas,&nbsp;David Netuka,&nbsp;Petr Busek,&nbsp;Aleksi Sedo","doi":"10.1111/bpa.13265","DOIUrl":"10.1111/bpa.13265","url":null,"abstract":"<p>Gliomagenesis induces profound changes in the composition of the extracellular matrix (ECM) of the brain. In this study, we identified a cellular population responsible for the increased deposition of collagen I and fibronectin in glioblastoma. Elevated levels of the fibrillar proteins collagen I and fibronectin were associated with the expression of fibroblast activation protein (FAP), which is predominantly found in pericyte-like cells in glioblastoma. FAP+ pericyte-like cells were present in regions rich in collagen I and fibronectin in biopsy material and produced substantially more collagen I and fibronectin in vitro compared to other cell types found in the GBM microenvironment. Using mass spectrometry, we demonstrated that 3D matrices produced by FAP+ pericyte-like cells are rich in collagen I and fibronectin and contain several basement membrane proteins. This expression pattern differed markedly from glioma cells. Finally, we have shown that ECM produced by FAP+ pericyte-like cells enhances the migration of glioma cells including glioma stem-like cells, promotes their adhesion, and activates focal adhesion kinase (FAK) signaling. Taken together, our findings establish FAP+ pericyte-like cells as crucial producers of a complex ECM rich in collagen I and fibronectin, facilitating the dissemination of glioma cells through FAK activation.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 6","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13265","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A role for vessel-associated extracellular matrix proteins in multiple sclerosis pathology","authors":"Marco Pisa,&nbsp;Joseph L. Watson,&nbsp;Jonathan I. Spencer,&nbsp;Guy Niblett,&nbsp;Yasamin Mahjoub,&nbsp;Andrew Lockhart,&nbsp;Richard L. Yates,&nbsp;Sydney A. Yee,&nbsp;Gina Hadley,&nbsp;Jennifer Ruiz,&nbsp;Margaret M. Esiri,&nbsp;Benedict Kessler,&nbsp;Roman Fischer,&nbsp;Gabriele C. DeLuca","doi":"10.1111/bpa.13263","DOIUrl":"10.1111/bpa.13263","url":null,"abstract":"<p>Multiple sclerosis (MS) is unsurpassed for its clinical and pathological hetherogeneity, but the biological determinants of this variability are unknown. <i>HLA-DRB1*15</i>, the main genetic risk factor for MS, influences the severity and distribution of MS pathology. This study set out to unravel the molecular determinants of the heterogeneity of MS pathology in relation to <i>HLA-DRB1*15</i> status. Shotgun proteomics from a discovery cohort of MS spinal cord samples segregated by <i>HLA-DRB*15</i> status revealed overexpression of the extracellular matrix (ECM) proteins, biglycan, decorin, and prolargin in <i>HLA-DRB*15</i>-positive cases, adding to established literature on a role of ECM proteins in MS pathology that has heretofore lacked systematic pathological validation. These findings informed a neuropathological characterisation of these proteins in a large autopsy cohort of 41 MS cases (18 <i>HLA-DRB1*15</i>-positive and <i>23 HLA-DRB1*15</i>-negative), and seven non-neurological controls on motor cortical, cervical and lumbar spinal cord tissue. Biglycan and decorin demonstrate a striking perivascular expression pattern in controls that is reduced in MS (−36.5%, <i>p</i> = 0.036 and − 24.7%, <i>p</i> = 0.039; respectively) in lesional and non-lesional areas. A concomitant increase in diffuse parenchymal accumulation of biglycan and decorin is seen in MS (<i>p</i> = 0.015 and <i>p</i> = 0.001, respectively), particularly in <i>HLA-DRB1*15</i>-positive cases (<i>p</i> = 0.007 and <i>p</i> = 0.046, respectively). Prolargin shows a faint parenchymal pattern in controls that is markedly increased in MS cases where a perivascular deposition pattern is observed (motor cortex +97.5%, <i>p</i> = 0.001; cervical cord +49.1%, <i>p</i> = 0.016). Our findings point to ECM proteins and the vascular interface playing a central role in MS pathology within and outside the plaque area. As ECM proteins are known potent pro-inflammatory molecules, their parenchymal accumulation may contribute to disease severity. This study brings to light novel factors that may contribute to the heterogeneity of the topographical variation of MS pathology.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 6","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13263","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140652988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell redistribution of G quadruplex-structured DNA is associated with morphological changes of nuclei and nucleoli in neurons during tau pathology progression","authors":"Thomas Comptdaer,&nbsp;Meryem Tardivel,&nbsp;Claire Schirmer,&nbsp;Luc Buée,&nbsp;Marie-Christine Galas","doi":"10.1111/bpa.13262","DOIUrl":"10.1111/bpa.13262","url":null,"abstract":"<p>While the double helical structure has long been its iconic representation, DNA is structurally dynamic and can adopt alternative secondary configurations. Specifically, guanine-rich DNA sequences can fold in guanine quadruplexes (G4) structures. These G4 play pivotal roles as regulators of gene expression and genomic stability, and influence protein homeostasis. Despite their significance, the association of G4 with neurodegenerative diseases such as Alzheimer's disease (AD) has been underappreciated. Recent findings have identified DNA sequences predicted to form G4 in sarkosyl-insoluble aggregates from AD brains, questioning the involvement of G4-structured DNA (G4 DNA) in the pathology. Using immunofluorescence coupled to confocal microscopy analysis we investigated the impact of tau pathology, a hallmark of tauopathies including AD, on the distribution of G4 DNA in murine neurons and its relevance to AD brains. In healthy neurons, G4 DNA is detected in nuclei with a notable presence in nucleoli. However, in a transgenic mouse model of tau pathology (THY-Tau22), early stages of the disease exhibit an impairment in the nuclear distribution of G4 DNA. In addition, G4 DNA accumulates in the cytoplasm of neurons exhibiting oligomerized tau and oxidative DNA damage. This altered distribution persists in the later stage of the pathology when larger tau aggregates are present. Still cytoplasmic deposition of G4 DNA does not appear to be a critical factor in the tau aggregation process. Similar patterns are observed in neurons from the AD cortex. Furthermore, the disturbance in G4 DNA distribution is associated with various changes in the size of neuronal nuclei and nucleoli, indicative of responses to stress and the activation of pro-survival mechanisms. Our results shed light on a significant impact of tau pathology on the dynamics of G4 DNA and on nuclear and nucleolar mechanobiology in neurons. These findings reveal new dimensions in the etiopathogenesis of tauopathies.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"35 2","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13262","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140674926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “A 4-year-old boy with a ventricular mass”","authors":"","doi":"10.1111/bpa.13266","DOIUrl":"10.1111/bpa.13266","url":null,"abstract":"<p>\u0000 <span>Zhou, J</span>, <span>Qu, K</span>, <span>Lv, M</span>, <span>Gao, Y</span>, <span>Zhang, L</span>, <span>Duan, L</span>, et al. <span>A 4-year-old boy with a ventricular mass</span>. <i>Brain Pathology.</i> <span>2022</span>; <span>32</span>(<span>5</span>):e13081. https://doi.org/10.1111/bpa.13081\u0000 </p><p>Figure 1 of this article has been published in another article shortly before by a different group of authors from the same institute elsewhere [<span>1</span>]. The authors have confirmed that they had access to the MR images and the histology results of their study from the hospitals public database and were not aware of the other group's publication. Although both articles describe the same patient, and partially overlapping results, yet the content is sufficiently different not to be considered redundant.</p><p>The authors have obtained retrospective permission for the reproduction of this image from the Chinese Journal of Contemporary Neurology &amp; Neurosurgery. The updated caption of Figure 1 with the copyright statement is as follows:</p><p><b>FIGURE 1</b> Axial T1-weighted contrast enhanced magnetic resonance imaging shows the low intensity mass was located on the front edge of the right brain ventricle, with a few darker strands and no enhancement (arrowhead). Reprinted with permission, Copyright 2022, Chinese Journal of Contemporary Neurology &amp; Neurosurgery [<span>1</span>].</p><p>The authors also wished to make a correction to the affiliation of the co-authors, Kexuan Qu and Mengxing Lv.</p><p>The correct affiliation is: Department of Pathology, Kunming Children's Hospital, Kunming, P.R. China and Department of Blood Transfusion, Kunming Children's Hospital, Kunming, P. R. China</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 5","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13266","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140675656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of pTDP-43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis","authors":"Qi-Jie Zhang,&nbsp;Jie Lin,&nbsp;You-Liang Wang,&nbsp;Long Chen,&nbsp;Ying Ding,&nbsp;Fu-Ze Zheng,&nbsp;Huan-Huan Song,&nbsp;Ao-Wei Lv,&nbsp;Yu-Ying Li,&nbsp;Qi-Fu Guo,&nbsp;Min-Ting Lin,&nbsp;Wei Hu,&nbsp;Liu-Qing Xu,&nbsp;Wen-Long Zhao,&nbsp;Ling Fang,&nbsp;Meng-Chao Cui,&nbsp;Zhi-Fei Fu,&nbsp;Wan-Jin Chen,&nbsp;Jing Zhang,&nbsp;Zhi-Qiang Wang,&nbsp;Ning Wang,&nbsp;Ying Fu","doi":"10.1111/bpa.13261","DOIUrl":"10.1111/bpa.13261","url":null,"abstract":"<p>Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease, pathologically characterized by TDP-43 aggregates. Recent evidence has been indicated that phosphorylated TDP-43 (pTDP-43) is present not only in motor neurons but also in muscle tissues. However, it is unclear whether testing pTDP-43 aggregation in muscle tissue would assist in the diagnosis of ALS. We propose three key questions: (i) Is aggregation of pTDP-43 detectable in routine biopsied muscles? (ii) Can detection of pTDP-43 aggregation discriminate between ALS and non-ALS patients? (iii) Can pTDP-43 aggregation be observed in the early stages of ALS? We conducted a diagnostic study comprising 2 groups: an ALS group in which 18 cases underwent muscle biopsy screened from a registered ALS cohort consisting of 802 patients and a non-ALS control group, in which we randomly selected 54 muscle samples from a biospecimen bank of 684 patients. Among the 18 ALS patients, 3 patients carried pathological GGGGCC repeats in the C9ORF72 gene, 2 patients carried SOD1 mutations, and 7 patients were at an early stage with only one body region clinically affected. The pTDP-43 accumulation could be detected in routine biopsied muscles, including biceps brachii, deltoid, tibialis anterior, and quadriceps. Abnormal aggregation of pTDP-43 was present in 94.4% of ALS patients (17/18) compared to 29.6% of non-ALS controls (16/54; <i>p</i> &lt; 0.001). The pTDP-43 aggregates were mainly close to the sarcolemma. Using a semi-quantified pTDP-43 aggregates score, we applied a cut-off value of 3 as a diagnostic biomarker, resulting in a sensitivity of 94.4% and a specificity of 83.3%. Moreover, we observed that accumulation of pTDP-43 occurred in muscle tissues prior to clinical symptoms and electromyographic lesions. Our study provides proof-of-concept for the detection of pTDP-43 accumulation via routine muscle biopsy which may serve as a novel biomarker for diagnosis of ALS.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 6","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13261","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140569932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Society News","authors":"","doi":"10.1111/bpa.13257","DOIUrl":"https://doi.org/10.1111/bpa.13257","url":null,"abstract":"","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 3","pages":""},"PeriodicalIF":6.4,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13257","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140544386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A supratentorial mass in a young adult, with 25 years of follow-up","authors":"Francesca Baciorri,&nbsp;Samantha Sarcognato,&nbsp;Francesco Di Paola,&nbsp;Evelina Miele,&nbsp;Sabrina Rossi","doi":"10.1111/bpa.13260","DOIUrl":"10.1111/bpa.13260","url":null,"abstract":"&lt;p&gt;A 32-year-old male presented with a history of recent onset headaches. Imaging with magnetic resonance revealed a left parietal mass that showed heterogeneous gadolinium contrast enhancement, mild perilesional edema, and a small cystic component (Figure 1). The patient underwent surgical excision, with a complete resection of the mass. No adjuvant therapies were administered. Periodic follow-up magnetic resonance imaging did not show disease recurrence, and the patient is currently disease-free 25 years after the diagnosis (Box 1).&lt;/p&gt;&lt;p&gt;Histopathological examination showed a well-demarcated hypercellular neoplasm, with a multinodular growth, a rich vascular network, and perivascular paucicellular zones. The neoplastic cells displayed moderate nuclear atypia and diffuse lipomatous differentiation, which consisted of single large cytoplasmic vacuoles pushing the nuclei to the periphery of the cells, giving a signet ring appearance (Figure 2). The mitotic count reached 4 mitotic figures per 10 high-power fields, and necrosis and microvascular proliferation were absent.&lt;/p&gt;&lt;p&gt;By immunohistochemistry, the cells showed immunoreactivity for glial fibrillary acidic protein, S100, and focal dot-like cytoplasmic positivity for epithelial membrane antigen. Ki-67 labeling index was 10%. Electron microscopy was performed and revealed the presence of complex zipper-like intercellular junctions and microvilli, typical of ependymal differentiation (Figure 2). Twenty-five years later, the case was re-evaluated with additional immunostains and molecular analyses. The tumor proved positive for p65 and L1CAM, consistent with the diagnosis of supratentorial ependymoma, ZFTA fusion-positive (ST-EPN-ZFTA). While we failed to obtain good quality RNA for gene fusion investigation, we were able to perform DNA methylation analysis (Epic Illumina) on the original samples. In agreement with the pathological and immunohistochemical findings, the lesion classified as a ST-EPN-ZFTA (score 0.62), subtype A (score 0.58, DKFZ Classifier version v12.5). The copy number variation (CNV) profile obtained from DNA methylation analysis showed considerable background noise likely due to the age of the material; nevertheless, loss of chromosomes 9 and 22 was clearly observed (Figure 2).&lt;/p&gt;&lt;p&gt;Back in the days, a diagnosis of ependymoma with lipomatous differentiation, grade II, was made with the support of morphology, immunohistochemistry, and electron microscopy. After 25 years, the addition of new immunohistochemical markers and the DNA methylation profile confirmed the diagnosis and led to a more accurate definition of the lesion as a ST-EPN-ZFTA with diffuse lipomatous differentiation, grade 2.&lt;/p&gt;&lt;p&gt;We herein describe a case of ST-EPN-ZFTA with lipomatous differentiation arising in a young adult who did not show any recurrence over a follow-up period of 25 years. Lipomatous differentiation is described in a few central nervous system (CNS) tumors, such as medulloblastomas, centra","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 4","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13260","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140570135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive histomolecular characterization of meningioangiomatosis: Further evidence for a precursor neoplastic lesion","authors":"Arnault Tauziède-Espariat,&nbsp;Julien Masliah-Planchon,&nbsp;Philipp Sievers,&nbsp;Felix Sahm,&nbsp;Volodia Dangouloff-Ros,&nbsp;Nathalie Boddaert,&nbsp;Lauren Hasty,&nbsp;Oumaima Aboubakr,&nbsp;Alice Métais,&nbsp;Fabrice Chrétien,&nbsp;Alexandre Roux,&nbsp;Johan Pallud,&nbsp;Thomas Blauwblomme,&nbsp;Kévin Beccaria,&nbsp;Franck Bourdeaut,&nbsp;Stéphanie Puget,&nbsp;Pascale Varlet","doi":"10.1111/bpa.13259","DOIUrl":"10.1111/bpa.13259","url":null,"abstract":"<p>Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated. Because a subset of MAM are associated with meningiomas, some authors argue that MAM corresponds to an infiltration pattern of these tumors. For these reasons, MAM has not been added to the World Health Organization (WHO) Classification of Central Nervous System Tumors as a specific entity. In the present study, we characterized a series of pure MAM (<i>n</i> = 7) and MAM associated with meningiomas (<i>n</i> = 4) using histopathology, immunohistochemistry, genetic (fluorescent in situ and DNA sequencing analyses), and epigenetic (DNA-methylation profiling) data. We evidenced two distinct morphological patterns: MAM with a fibroblastic-like pattern having few lesional cells, and MAM with a more cellular pattern. A subset was associated with the genetic alterations previously reported in meningiomas (such as a <i>KMT2C</i> mutation and a hemizygous deletion of chromosome 22q including the <i>NF2</i> gene). The DNA-methylation profile, using a t-distributed stochastic neighbor embedding analysis, evidenced that MAM (pure or associated with meningiomas) clustered in a separate group from pediatric meningiomas. The present results seem to suggest that MAM represents a neoplastic lesion and encourage the further study of similar additional series so that it may be included in a future WHO classification.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 6","pages":""},"PeriodicalIF":5.8,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13259","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140569662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A mass in the pineal region of a young woman","authors":"Lorraina J. Robinson,&nbsp;Eric Goold,&nbsp;David Anderson,&nbsp;Robert C. Rennert,&nbsp;William T. Couldwell,&nbsp;Changhong Xing","doi":"10.1111/bpa.13258","DOIUrl":"10.1111/bpa.13258","url":null,"abstract":"&lt;p&gt;This case involves an 18-year-old female with no significant past medical history who was found to have a large pineal and third ventricular tumor with obstructive hydrocephalus after experiencing subacute, progressive headaches, and an acute episode of sudden vision loss. She underwent a ventriculoperitoneal shunt at an outside facility with improvement in her vision before presenting as a transfer to our facility. Brain magnetic resonance imaging upon transfer demonstrated a large, heterogenous enhancing mass (6.6 × 6.1 × 5.7 cm) centered in the pineal region with extension into the third and right lateral ventricles (Figure 1). The tumor exerted mass effect by splaying the bilateral thalami with effacement of the basal cisterna, effacement of the cerebral aqueduct, and an 8 mm tonsillar herniation. Surgery was pursued for a definitive diagnosis and tumor debulking. Intraoperatively, the tumor demonstrated variable soft and firm consistency with moderate vascularity. Post-operative imaging did not demonstrate clear residual tumor. She was discharged with no new neurologic deficits.&lt;/p&gt;&lt;p&gt;Histology of H&amp;E-stained sections demonstrated a moderately hypercellular neoplasm consisting of an admixture of small to medium-sized spindle cells embedded in a heavily collagenized and myxoid matrix (Box 1, Figure 2A, B). Tumor cells were observed forming disorganized, haphazard architectural patterns while some tumor cells were seen floating in a loose basophilic myxoid matrix (Figure 2A). The mitotic index was &lt;1/10 high-power-fields. Necrosis was absent. By immunohistochemistry, the tumor cells were patchy positive for CD163 (Figure 2C) and CD99 (Figure 2D), focally positive for desmin (Figure 2D inset), and negative for GFAP, OLIG2, CD34, and SSTR2. MIB-1 proliferation index was overall low (1%–2%) (Figure 2E) but focally increased at approximately 10% (Figure 2E inset). Immunostaining for SMARCB1 showed loss of expression in many of the tumor cells (Figure 2F).&lt;/p&gt;&lt;p&gt;NeoTYPE brain tumor profile (DNA and RNA) from NeoGenomics was performed, and no pathogenic mutations or fusions were detected. However, a variant of unknown clinical significance involving the &lt;i&gt;SMARCB1&lt;/i&gt; gene c.91G&gt;A (p.Glu31Lys) E31K NM_003073.5:c.91G&gt;A was detected. Whole genome methylation profiling was performed at the National Institute of Health (NIH)/National Cancer Institute (NCI) for confirmation of the diagnosis. The composite NIH/NCI methylation profile classified the tumor with a high confidence score (0.99) as a desmoplastic myxoid tumor, &lt;i&gt;SMARCB1&lt;/i&gt;-altered.&lt;/p&gt;&lt;p&gt;Desmoplastic myxoid tumor (DMT) of the pineal region, &lt;i&gt;SMARCB1&lt;/i&gt;-mutant.&lt;/p&gt;&lt;p&gt;As defined by the most recent 2021 World Health Organization (WHO) Central Nervous System tumor classification, DMT of the pineal region, &lt;i&gt;SMARCB1&lt;/i&gt;-mutant, maintains a unique &lt;i&gt;SMARCB1&lt;/i&gt;-mutation while histologically displaying desmoplasia and myxoid changes but lacking histopathological signs of maligna","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"34 3","pages":""},"PeriodicalIF":6.4,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13258","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140288275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}