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Article ; Online: Innumerable Meningiomas Arising in a Patient With Tuberous Sclerosis Complex Decades After Radiation Therapy.

Gilani, Ahmed / Lee, Julieann C / Kleinschmidt-DeMasters, B K

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

2021 Volume 24, Issue 5, Page(s) 471–477

Abstract: Meningioma is the most common radiation-induced brain neoplasm, usually occurring after a latency of 20 - 35 years, with multiplicity in 10% of cases. Radiation-induced meningiomas (RIMs) have not previously been reported in patients with tuberous ... ...

Abstract	Meningioma is the most common radiation-induced brain neoplasm, usually occurring after a latency of 20 - 35 years, with multiplicity in 10% of cases. Radiation-induced meningiomas (RIMs) have not previously been reported in patients with tuberous sclerosis complex (TSC), unlike their well-known occurrence in other familial tumor predisposition syndrome patients. We report a TSC patient who developed numerous intracranial meningiomas twenty five year after radiation therapy for subependymal giant cell astrocytoma (SEGA). Autopsy examination showed innumerable, coalescent, benign, meningothelial meningiomas, WHO grade 1, ranging in size from 0.2 cm to 3.3 cm. Autopsy also showed small residual SEGA, radiation-induced cerebral vasculopathy, and classic TSC features including several small subependymal nodules ("candle gutterings"), white matter radial heterotopia, facial angiofibromas, dental enamel pitting, one ash leaf spot, and multiple hepatic and renal angiomyolipomas. Next-generation sequencing analysis utilizing a 500+ gene cancer panel demonstrated chromosomal loss involving the majority of chromosome 22, including the
MeSH term(s)	Adult ; Astrocytoma/radiotherapy ; Cerebral Ventricle Neoplasms/radiotherapy ; Fatal Outcome ; Female ; Humans ; Meningeal Neoplasms/diagnosis ; Meningeal Neoplasms/etiology ; Meningeal Neoplasms/pathology ; Meningioma/diagnosis ; Meningioma/etiology ; Meningioma/pathology ; Neoplasms, Radiation-Induced/diagnosis ; Neoplasms, Radiation-Induced/etiology ; Neoplasms, Radiation-Induced/pathology ; Third Ventricle ; Tuberous Sclerosis/radiotherapy
Language	English
Publishing date	2021-04-07
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1463498-3
ISSN	1615-5742 ; 1093-5266
ISSN (online)	1615-5742
ISSN	1093-5266
DOI	10.1177/10935266211006078
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Zs.A 5063: Show issues

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Article ; Online: Molecular characterization of metachronous atypical teratoid rhabdoid tumors occurring in a young man 15 years apart.

Bruggers, Carol S / Linscott, Luke / Lee, Julieann C / Perry, Arie / Klonoski, Joshua / Viskochil, David / Cheshier, Samuel / Afify, Zeinab

Pediatric blood & cancer

2022 Volume 70, Issue 1, Page(s) e29836

MeSH term(s)	Male ; Humans ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; Teratoma/genetics ; Teratoma/pathology ; Central Nervous System Neoplasms ; Brain Neoplasms/pathology
Language	English
Publishing date	2022-06-09
Publishing country	United States
Document type	Editorial
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.29836
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Article ; Online: Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.

Lee, Julieann C / Tran, Quynh T / McGee, Rose B / Perrino, Melissa R / Upadhyaya, Santhosh A / Hanzlik, Emily M / Pytel, Nicholas / Carroll, Andrew J / Orisme, Wilda / Eldomery, Mohammad / Wang, Lu / Blackburn, Patrick R / Furtado, Larissa V / Viaene, Angela N / Luo, Minjie / Kalish, Jennifer M / Pinto, Soniya N / Bag, Asim K / Orr, Brent A

Neuropathology and applied neurobiology

2024 Volume 50, Issue 2, Page(s) e12971

MeSH term(s)	Humans ; Rhabdoid Tumor/genetics ; Rhabdoid Tumor/pathology ; Ring Chromosomes ; SMARCB1 Protein/genetics ; Central Nervous System Neoplasms ; Germ Cells/pathology ; Teratoma/genetics
Chemical Substances	SMARCB1 Protein
Language	English
Publishing date	2024-03-15
Publishing country	England
Document type	Journal Article
ZDB-ID	80371-6
ISSN	1365-2990 ; 0305-1846
ISSN (online)	1365-2990
ISSN	0305-1846
DOI	10.1111/nan.12971
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Zs.A 1241: Show issues

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Article ; Online: Detection of Metastatic Meningioma to the Liver Using 68Ga-DOTA-Octreotate PET/CT.

Villanueva-Meyer, Javier E / Magill, Stephen T / Lee, Julieann C / Umetsu, Sarah E / Flavell, Robert R

Clinical nuclear medicine

2018 Volume 43, Issue 9, Page(s) e338–e340

Abstract: We present a case of metastatic meningioma detected on Ga-DOTA-octreotate PET. A 52-year-old woman presented with multiply recurrent multifocal meningioma. A staging Ga-DOTATATE PET/CT demonstrated focal radiotracer uptake within the known intracranial ... ...

Abstract	We present a case of metastatic meningioma detected on Ga-DOTA-octreotate PET. A 52-year-old woman presented with multiply recurrent multifocal meningioma. A staging Ga-DOTATATE PET/CT demonstrated focal radiotracer uptake within the known intracranial meningiomas. In addition, a DOTATATE-avid mass was found in the liver that was biopsied, confirming metastatic meningioma. This report suggests that Ga-DOTATATE PET/CT should be considered whenever screening meningioma patients for metastases.
MeSH term(s)	Female ; Humans ; Liver Neoplasms/diagnostic imaging ; Liver Neoplasms/secondary ; Meningeal Neoplasms/diagnostic imaging ; Meningeal Neoplasms/pathology ; Meningioma/diagnostic imaging ; Meningioma/pathology ; Middle Aged ; Organometallic Compounds ; Positron Emission Tomography Computed Tomography ; Radiopharmaceuticals
Chemical Substances	Organometallic Compounds ; Radiopharmaceuticals ; dotatate gallium ga-68 (9L17Y0H71P)
Language	English
Publishing date	2018-06-25
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	197628-x
ISSN	1536-0229 ; 0363-9762
ISSN (online)	1536-0229
ISSN	0363-9762
DOI	10.1097/RLU.0000000000002183
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Article ; Online: Tumor DNA requirements for accurate epigenetic-based classification of CNS neoplasia.

Wu, Jasper / Gupta, Rohit / Barreto, Jairo / Doo, Pamela / Joseph, Nancy M / Lee, Julieann C / Perry, Arie / Chang, Susan M / Berger, Mitchel S / Solomon, David A

Neuro-oncology

2021 Volume 23, Issue 10, Page(s) 1798–1800

MeSH term(s)	Central Nervous System Neoplasms/genetics ; DNA Methylation ; DNA, Neoplasm ; Epigenesis, Genetic ; Epigenomics ; Humans
Chemical Substances	DNA, Neoplasm
Language	English
Publishing date	2021-08-05
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2028601-6
ISSN	1523-5866 ; 1522-8517
ISSN (online)	1523-5866
ISSN	1522-8517
DOI	10.1093/neuonc/noab157
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Article: Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene

Shieh, Joseph T / Tintos-Hernández, Jesus A / Murali, Chaya N / Penon-Portmann, Monica / Flores-Mendez, Marco / Santana, Adrian / Bulos, Joshua A / Du, Kang / Dupuis, Lucie / Damseh, Nadirah / Mendoza-Londoño, Roberto / Berera, Camilla / Lee, Julieann C / Phillips, Joanna J / Alves, César A P F / Dmochowski, Ivan J / Ortiz-González, Xilma R

medRxiv : the preprint server for health sciences

2023

Abstract: Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded ... ...

Abstract	Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by
Language	English
Publishing date	2023-01-31
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.01.30.23285099
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Article ; Online: Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.

Shieh, Joseph T / Tintos-Hernandez, Jesus A / Murali, Chaya N / Penon-Portmann, Monica / Flores-Mendez, Marco / Santana, Adrian / Bulos, Joshua A / Du, Kang / Dupuis, Lucie / Damseh, Nadirah / Mendoza-Londoño, Roberto / Berera, Camilla / Lee, Julieann C / Phillips, Joanna J / Alves, César A P F / Dmochowski, Ivan J / Ortiz-González, Xilma R

HGG advances

2023 Volume 4, Issue 4, Page(s) 100236

Abstract: Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). ...

Abstract	Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously associated with neurologic disease. We describe the clinical, neuroimaging, and neuropathology findings of five unrelated pediatric patients with de novo heterozygous FTH1 variants. Children presented with developmental delay, epilepsy, and progressive neurologic decline. Nonsense FTH1 variants were identified using whole-exome sequencing, with a recurrent variant (p.Phe171∗) identified in four unrelated individuals. Neuroimaging revealed diffuse volume loss, features of pontocerebellar hypoplasia, and iron accumulation in the basal ganglia. Neuropathology demonstrated widespread ferritin inclusions in the brain. Patient-derived fibroblasts were assayed for ferritin expression, susceptibility to iron accumulation, and oxidative stress. Variant FTH1 mRNA transcripts escape nonsense-mediated decay (NMD), and fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. C-terminal variants in FTH1 truncate ferritin's E helix, altering the 4-fold symmetric pores of the heteropolymer, and likely diminish iron-storage capacity. FTH1 pathogenic variants appear to act by a dominant, toxic gain-of-function mechanism. The data support the conclusion that truncating variants in the last exon of FTH1 cause a disorder in the spectrum of NBIA. Targeted knockdown of mutant FTH1 transcript with antisense oligonucleotides rescues cellular phenotypes and suggests a potential therapeutic strategy for this pediatric neurodegenerative disorder.
MeSH term(s)	Humans ; Child ; Apoferritins/genetics ; Iron Metabolism Disorders/genetics ; Iron/metabolism ; Ferritins/genetics ; Oxidoreductases/metabolism ; Neuroaxonal Dystrophies
Chemical Substances	Apoferritins (9013-31-4) ; Iron (E1UOL152H7) ; Ferritins (9007-73-2) ; FTH1 protein, human (EC 1.-) ; Oxidoreductases (EC 1.-)
Language	English
Publishing date	2023-09-03
Publishing country	United States
Document type	Journal Article
ISSN	2666-2477
ISSN (online)	2666-2477
DOI	10.1016/j.xhgg.2023.100236
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Article ; Online: DNA methylation profiling demonstrates superior diagnostic classification to RNA-sequencing in a case of metastatic meningioma.

Vasudevan, Harish N / Castro, Maria R H / Lee, Julieann C / Villanueva-Meyer, Javier E / Bush, Nancy Ann Oberheim / McDermott, Michael W / Solomon, David A / Perry, Arie / Magill, Stephen T / Raleigh, David R

Acta neuropathologica communications

2020 Volume 8, Issue 1, Page(s) 82

Abstract: Meningiomas are the most common primary intracranial tumors, but meningioma metastases are rare. Accordingly, the clinical workup, diagnostic testing, and molecular classification of metastatic meningioma is incompletely understood. Here, we present a ... ...

Abstract	Meningiomas are the most common primary intracranial tumors, but meningioma metastases are rare. Accordingly, the clinical workup, diagnostic testing, and molecular classification of metastatic meningioma is incompletely understood. Here, we present a case report of multiply recurrent meningioma complicated by liver metastasis. We discuss the patient presentation, imaging findings, and conventional histopathologic characterization of both the intracranial lesion and the metastatic focus. Further, we perform multiplatform molecular profiling, comprised of DNA methylation arrays and RNA-sequencing, of six stereotactically-guided samples from the intracranial meningioma and a single ultrasound-guided liver metastasis biopsy. Our results show that DNA methylation clusters distinguish the liver metastasis from the intracranial meningioma samples, and identify a small focus of hepatocyte contamination with the liver biopsy. Nonetheless, DNA methylation-based classification accurately identifies the liver metastasis as a meningioma with high confidence. We also find that clustering of RNA-sequencing results distinguishes the liver metastasis from the intracranial meningiomas samples, but that differential gene expression classification is confounded by hepatocyte-specific gene expression programs in the liver metastasis. In sum, this case report sheds light on the comparative biology of intracranial and metastatic meningioma. Furthermore, our results support methylation-based classification as a robust method of diagnosing metastatic lesions, underscore the broad utility of DNA methylation array profiling in diagnostic pathology, and caution against the routine use of bulk RNA-sequencing for identifying tumor signatures in heterogeneous metastatic lesions.
MeSH term(s)	Base Sequence ; DNA Methylation ; Female ; Gene Expression ; Gene Expression Profiling/methods ; Humans ; Liver Neoplasms/diagnosis ; Liver Neoplasms/genetics ; Liver Neoplasms/secondary ; Meningeal Neoplasms/diagnosis ; Meningeal Neoplasms/genetics ; Meningeal Neoplasms/pathology ; Meningioma/diagnosis ; Meningioma/genetics ; Meningioma/pathology ; Middle Aged ; Transcriptome
Language	English
Publishing date	2020-06-09
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2715589-4
ISSN	2051-5960 ; 2051-5960
ISSN (online)	2051-5960
ISSN	2051-5960
DOI	10.1186/s40478-020-00952-3
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Article ; Online: Low-grade glioneuronal tumors with FGFR2 fusion resolve into a single epigenetic group corresponding to 'Polymorphous low-grade neuroepithelial tumor of the young'.

Gupta, Rohit / Lucas, Calixto-Hope G / Wu, Jasper / Barreto, Jairo / Shah, Kathan / Simon, Iraide Bernal / Casavilca-Zambrano, Sandro / Brathwaite, Carole / Zhou, Holly / Caccamo, Dario / Gilani, Ahmed / Kleinschmidt-DeMasters, Bette K / Lee, Julieann C / Perry, Arie / Clarke, Jennifer L / Chang, Susan M / Berger, Mitchel S / Solomon, David A

Acta neuropathologica

2021 Volume 142, Issue 3, Page(s) 595–599

MeSH term(s)	Adolescent ; Adult ; Brain Neoplasms/genetics ; Child, Preschool ; DNA Methylation ; Epigenesis, Genetic/genetics ; Epilepsy/etiology ; Epilepsy/genetics ; Female ; Humans ; Male ; Neoplasms, Neuroepithelial/pathology ; Oncogene Proteins, Fusion ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Young Adult
Chemical Substances	Oncogene Proteins, Fusion ; FGFR2 protein, human (EC 2.7.10.1) ; Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.10.1)
Language	English
Publishing date	2021-07-28
Publishing country	Germany
Document type	Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1079-0
ISSN	1432-0533 ; 0001-6322
ISSN (online)	1432-0533
ISSN	0001-6322
DOI	10.1007/s00401-021-02352-w
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Ui II Zs.188: Show issues

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Article ; Online: Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang, Yalan / Lucas, Calixto-Hope G / Young, Jacob S / Morshed, Ramin A / McCoy, Lucie / Oberheim Bush, Nancy Ann / Taylor, Jennie W / Daras, Mariza / Butowski, Nicholas A / Villanueva-Meyer, Javier E / Cha, Soonmee / Wrensch, Margaret / Wiencke, John K / Lee, Julieann C / Pekmezci, Melike / Phillips, Joanna J / Perry, Arie / Bollen, Andrew W / Aghi, Manish K /

Theodosopoulos, Philip / Chang, Edward F / Hervey-Jumper, Shawn L / Berger, Mitchel S / Clarke, Jennifer L / Chang, Susan M / Molinaro, Annette M / Solomon, David A

Neuro-oncology

2022 Volume 24, Issue 10, Page(s) 1749–1762

Abstract: Background: Genomic profiling studies of diffuse gliomas have led to new improved classification schemes that better predict patient outcomes compared to conventional histomorphology alone. One example is the recognition that patients with IDH-wildtype ... ...

Abstract	Background: Genomic profiling studies of diffuse gliomas have led to new improved classification schemes that better predict patient outcomes compared to conventional histomorphology alone. One example is the recognition that patients with IDH-wildtype diffuse astrocytic gliomas demonstrating lower-grade histologic features but genomic and/or epigenomic profile characteristic of glioblastoma typically have poor outcomes similar to patients with histologically diagnosed glioblastoma. Here we sought to determine the clinical impact of prospective genomic profiling for these IDH-wildtype diffuse astrocytic gliomas lacking high-grade histologic features but with molecular profile of glioblastoma. Methods: Clinical management and outcomes were analyzed for 38 consecutive adult patients with IDH-wildtype diffuse astrocytic gliomas lacking necrosis or microvascular proliferation on histologic examination that were genomically profiled on a prospective clinical basis revealing criteria for an integrated diagnosis of "diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV" per cIMPACT-NOW criteria. Results: We identified that this diagnosis consists of two divergent clinical scenarios based on integration of radiologic, histologic, and genomic features that we term "early/evolving" and "undersampled" glioblastoma, IDH-wildtype. We found that prospective genomically guided identification of early/evolving and undersampled IDH-wildtype glioblastoma resulted in more aggressive patient management and improved clinical outcomes compared to a biologically matched historical control patient cohort receiving standard-of-care therapy based on histomorphologic diagnosis alone. Conclusions: These results support routine use of genomic and/or epigenomic profiling to accurately classify glial neoplasms, as these assays not only improve diagnostic classification but critically lead to more appropriate patient management that can improve clinical outcomes.
MeSH term(s)	Adult ; Astrocytoma/genetics ; Brain Neoplasms/diagnosis ; Brain Neoplasms/genetics ; Brain Neoplasms/pathology ; Glioblastoma/diagnosis ; Glioblastoma/genetics ; Glioma/pathology ; Humans ; Isocitrate Dehydrogenase/genetics ; Mutation ; Prospective Studies
Chemical Substances	Isocitrate Dehydrogenase (EC 1.1.1.41)
Language	English
Publishing date	2022-04-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2028601-6
ISSN	1523-5866 ; 1522-8517
ISSN (online)	1523-5866
ISSN	1522-8517
DOI	10.1093/neuonc/noac089
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