Scholars@Duke
Giselle Yvette López

Giselle Yvette López

Associate Professor in Pathology
Pathology
Box 3712 Med Ctr, Durham, NC 27710
207M Green Zone, Duke South, DUMC Box 3712, Durham, NC 27710

Selected Publications

Pediatric glioma immune profiling identifies TIM3 as a therapeutic target in BRAF fusion pilocytic astrocytoma.

Journal Article J Clin Invest · August 13, 2024 Despite being the leading cause of cancer-related childhood mortality, pediatric gliomas have been relatively understudied, and the repurposing of immunotherapies has not been successful. Whole-transcriptome sequencing, single-cell sequencing, and sequenti ... Full text Link to item Cite

Spatial transcriptomics reveals segregation of tumor cell states in glioblastoma and marked immunosuppression within the perinecrotic niche.

Journal Article Acta Neuropathol Commun · April 22, 2024 Glioblastoma (GBM) remains an untreatable malignant tumor with poor patient outcomes, characterized by palisading necrosis and microvascular proliferation. While single-cell technology made it possible to characterize different lineage of glioma cells into ... Full text Open Access Link to item Cite

Polio virotherapy targets the malignant glioma myeloid infiltrate with diffuse microglia activation engulfing the CNS.

Journal Article Neuro-oncology · September 2023 BackgroundMalignant gliomas commandeer dense inflammatory infiltrates with glioma-associated macrophages and microglia (GAMM) promoting immune suppression, evasion, and tumor progression. Like all cells in the mononuclear phagocytic system, GAMM c ... Full text Open Access Cite

Ganglioglioma deep transcriptomics reveals primitive neuroectoderm neural precursor-like population.

Journal Article Acta Neuropathol Commun · March 25, 2023 Gangliogliomas are brain tumors composed of neuron-like and macroglia-like components that occur in children and young adults. Gangliogliomas are often characterized by a rare population of immature astrocyte-appearing cells expressing CD34, a marker expre ... Full text Link to item Cite

Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1.

Journal Article Acta neuropathologica · January 2023 High-grade astrocytoma with piloid features (HGAP) is a recently recognized glioma type whose classification is dependent on its global epigenetic signature. HGAP is characterized by alterations in the mitogen-activated protein kinase (MAPK) pathway, often ... Full text Cite

Cerebellar Collision Tumor of High-Grade Astrocytoma and Meningioma

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2022 Cite

Anti-GRP78 for the treatment of metastatic brain tumors

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2022 Cite

Papillary Glioneuronal Tumor With a Novel GPR37L1-PRKCA Fusion.

Journal Article J Neuropathol Exp Neurol · October 26, 2021 Full text Link to item Cite

Frequent Mutations of POT1 Distinguish Pulmonary Sarcomatoid Carcinoma From Other Lung Cancer Histologies.

Journal Article Clin Lung Cancer · November 2020 INTRODUCTION: Pulmonary sarcomatoid carcinoma (PSC) is a rare subtype of non-small-cell lung cancer (NSCLC) harboring mutations in many canonical NSCLC-driver genes (eg, TP53, KRAS, MET). Protection of telomeres 1 (POT1) mutations are observed in angiosarc ... Full text Link to item Cite

Eosinophilic globules in a classic ependymoma: evidence of a possible secretory role.

Journal Article Ultrastructural pathology · November 2020 A number of neoplasms of the central nervous system can demonstrate diffuse eosinophilic globules, known to be secretory products of the corresponding cell type, but they have not been a salient feature in descriptions of classic ependymoma. Here, we prese ... Full text Cite

POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.

Journal Article J Med Genet · October 2020 BACKGROUND: The shelterin complex is composed of six proteins that protect and regulate telomere length, including protection of telomeres 1 (POT1). Germline POT1 mutations are associated with an autosomal dominant familial cancer syndrome presenting with ... Full text Link to item Cite

Management of glioblastoma: State of the art and future directions.

Journal Article CA Cancer J Clin · July 2020 Glioblastoma is the most common malignant primary brain tumor. Overall, the prognosis for patients with this disease is poor, with a median survival of <2 years. There is a slight predominance in males, and incidence increases with age. The standard approa ... Full text Link to item Cite

Catastrophic stroke burden in a patient with uncontrolled psoriasis and psoriatic arthritis: a case report.

Journal Article BMC Neurol · March 21, 2020 BACKGROUND: Psoriasis is the most common chronic inflammatory condition involving the T helper cell system. Population studies have demonstrated that patients with psoriasis and/or psoriatic arthritis have an increased risk of developing vascular risk fact ... Full text Link to item Cite

Prognostic Impact of Hypercellular Nodules in Low Grade Oligodendroglioma

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2020 Cite

Proinflammatory cytokines and ARDS pulmonary edema fluid induce CD40 on human mesenchymal stromal cells-A potential mechanism for immune modulation.

Journal Article PLoS One · 2020 Human mesenchymal stem/stromal cells (hMSCs) are a promising therapy for acute respiratory distress syndrome (ARDS) and other inflammatory conditions. While considerable research has focused on paracrine effects and mitochondrial transfer that improve lung ... Full text Link to item Cite

Intracranial myxoid mesenchymal tumor with EWSR1-CREM fusion

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2020 Cite

Eosinophilic globules in a classic ependymoma

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2020 Cite

CDKN2A/B Loss Is Associated with Anaplastic Transformation in a Case of NTRK2 Fusion-positive Pilocytic Astrocytoma.

Journal Article Neuropathol Appl Neurobiol · February 2019 Pilocytic astrocytomas are typically grade I astrocytomas, only rarely progressing to anaplastic counterparts [1]. In the case of anaplastic pilocytic astrocytomas, some are associated with neurofibromatosis type 1 (NF1) [2], others are associated with rad ... Full text Link to item Cite

The genetic landscape of gliomas arising after therapeutic radiation.

Journal Article Acta neuropathologica · January 2019 Featured Publication Radiotherapy improves survival for common childhood cancers such as medulloblastoma, leukemia, and germ cell tumors. Unfortunately, long-term survivors suffer sequelae that can include secondary neoplasia. Gliomas are common secondary neoplasms after crani ... Full text Cite

Oligodendroglioma with Neurocytic Differentiation: New perspectives on a known entity

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2019 Cite

Perilesional edema associated with an intracranial calcifying pseudoneoplasm of the neuraxis in a child: case report and review of imaging features.

Journal Article J Neurosurg Pediatr · November 1, 2018 Calcifying pseudoneoplasms of the neuraxis (CAPNONs) are rare, nonneoplastic lesions of the CNS. Their radiographic features have been well described, with prominent calcifications seen on CT imaging and generally uniform hypointensity on T1- and T2-weight ... Full text Link to item Cite

Metastatic cervical paravertebral solitary fibrous tumor detected by fluorodeoxyglucose positron emission tomography-computed tomography.

Journal Article Radiol Case Rep · April 2018 Solitary fibrous tumor/hemangiopericytomas (SFT/HPC) are soft tissue tumors that can arising from the abomen, pleura, head and neck, or extremities. We report an unusual case of recurrent hemangiopericytoma in a 67-year-old female presenting with a painles ... Full text Open Access Link to item Cite

Brachial Plexopathy Caused by Endoneurial IgM Deposition in a Patient with Waldenstrom's Macroglobulinemia

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2018 Cite

Anaplastic Transformation in a Pilocytic Astrocytoma

Conference JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY · 2017 Cite

Brain Tumours

Journal Article · November 3, 2016 Abstract Brain tumour genetics allow for improved classification and development of therapeutic options for primary brain tumours. Tumours with speci ... Full text Cite

Supratentorial tanycytic ependymoma in an adult male: case report and review of literature.

Journal Article Case Rep Oncol · 2015 Ependymomas, tumors of the ependymal cells, are very rare and usually present in the pediatric population. Furthermore, there are even rarer variants of ependymomas that can include cellular, papillary, clear cell, and tanycytic subtypes. We present a case ... Full text Open Access Link to item Cite

Genetic alterations in glioblastoma multiforme

Chapter · January 1, 2015 Featured Publication Glioblastoma multiforme (GBM), or Grade IV astrocytoma, is one of the most common and malignant primary tumors of the central nervous system in adults [1]. Despite years of research and advances, the average survival after diagnosis remains about 12 months ... Full text Cite

EGFR phosphorylation of DCBLD2 recruits TRAF6 and stimulates AKT-promoted tumorigenesis.

Journal Article J Clin Invest · September 2014 Featured Publication Aberrant activation of EGFR in human cancers promotes tumorigenesis through stimulation of AKT signaling. Here, we determined that the discoidina neuropilin-like membrane protein DCBLD2 is upregulated in clinical specimens of glioblastomas and head and nec ... Full text Open Access Link to item Cite

Disruption of wild-type IDH1 suppresses D-2-hydroxyglutarate production in IDH1-mutated gliomas.

Journal Article Cancer Res · January 15, 2013 Point mutations at Arg132 of the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase 1 (IDH1) occur frequently in gliomas and result in a gain of function to produce the "oncometabolite" D-2-hydroxyglutarate (D-2HG). The mutated IDH1 allele is usually a ... Full text Open Access Link to item Cite

Mutant IDH1 is required for IDH1 mutated tumor cell growth.

Journal Article Oncotarget · August 2012 Frequent somatic hotspot mutations in isocitrate dehydrogenase 1 (IDH1) have been identified in gliomas, acute myeloid leukemias, chondrosarcomas, and other cancers, providing a likely avenue for targeted cancer therapy. However, whether mutant IDH1 protei ... Full text Open Access Link to item Cite

Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas.

Journal Article Oncotarget · July 2012 Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors. However, the frequen ... Full text Open Access Link to item Cite

Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.

Journal Article Nature · February 15, 2012 Featured Publication The identification of succinate dehydrogenase (SDH), fumarate hydratase (FH) and isocitrate dehydrogenase (IDH) mutations in human cancers has rekindled the idea that altered cellular metabolism can transform cells. Inactivating SDH and FH mutations cause ... Full text Open Access Link to item Cite

Transcriptional regulation of N-acetylglutamate synthase.

Journal Article PLoS One · 2012 The urea cycle converts toxic ammonia to urea within the liver of mammals. At least 6 enzymes are required for ureagenesis, which correlates with dietary protein intake. The transcription of urea cycle genes is, at least in part, regulated by glucocorticoi ... Full text Open Access Link to item Cite

Isocitrate dehydrogenase mutations in gliomas: mechanisms, biomarkers and therapeutic target.

Journal Article Curr Opin Neurol · December 2011 PURPOSE OF REVIEW: Isocitrate dehydrogenases, IDH1 and IDH2, decarboxylate isocitrate to α-ketoglutarate (α-KG) and reduce NADP to NADPH. Point mutations of IDH1 and IDH2 have been discovered in gliomas. IDH mutations cause loss of native enzymatic activit ... Full text Open Access Link to item Cite

Brain Tumours

Journal Article · March 15, 2011 AbstractBrain tumour genetics allow for improved classification and development of therapeutic options for certain primary brain tumours. Tumours with specific genetic alterations and molecular profil ... Full text Cite

IDH1(R132) mutation identified in one human melanoma metastasis, but not correlated with metastases to the brain.

Journal Article Biochem Biophys Res Commun · July 30, 2010 Isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are enzymes which convert isocitrate to alpha-ketoglutarate while reducing nicotinamide adenine dinucleotide phosphate (NADP+to NADPH). IDH1/2 were recently identified as mutated in a ... Full text Open Access Link to item Cite

TRANSCRIPTIONAL REGULATION OF N-ACETYLGLUTAMATE SYNTHASE

Conference MOLECULAR GENETICS AND METABOLISM · 2009 Cite

Gastrin-releasing peptide, immune responses, and lung disease.

Journal Article Ann N Y Acad Sci · November 2008 Gastrin-releasing peptide (GRP) is produced by pulmonary neuroendocrine cells (PNECs), with highest numbers of GRP-positive cells present in fetal lung. Normally GRP-positive PNECs are relatively infrequent after birth, but PNEC hyperplasia is frequently a ... Full text Link to item Cite

Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.

Journal Article Mol Genet Metab · March 2006 N-Acetylglutamate synthase (NAGS, EC 2.3.1.1) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetylcoenzyme A. NAG is an obligatory activator of carbamylphosphate I (CPSI), the first and a rate limiting ... Full text Link to item Cite

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Journal Article Hum Mutat · March 2005 N-acetylglutamate (NAG) is a unique cofactor that is essential for the conversion of ammonia to urea in the liver. N-acetylglutamate synthase (NAGS) catalyzes the formation of NAG. Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemi ... Full text Link to item Cite