PXA
MCID: PLM020
MIFTS: 44

Pleomorphic Xanthoastrocytoma (PXA)

Categories: Cancer diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pleomorphic Xanthoastrocytoma

MalaCards integrated aliases for Pleomorphic Xanthoastrocytoma:

Name: Pleomorphic Xanthoastrocytoma 12 54 60 6 15 74
Pxa 54 60
Pleomorphic Xantho-Astrocytoma 12

Characteristics:

Orphanet epidemiological data:

60
pleomorphic xanthoastrocytoma
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:4852
NCIt 51 C4323
SNOMED-CT 69 78838008
ICD10 via Orphanet 35 C71.9
UMLS via Orphanet 75 C0334586
Orphanet 60 ORPHA251607
UMLS 74 C0334586

Summaries for Pleomorphic Xanthoastrocytoma

MalaCards based summary : Pleomorphic Xanthoastrocytoma, also known as pxa, is related to desmoplastic infantile ganglioglioma and astroblastoma, and has symptoms including seizures An important gene associated with Pleomorphic Xanthoastrocytoma is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways is Glioblastoma Multiforme. The drugs Cyproheptadine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and temporal lobe, and related phenotypes are Increased proliferation and growth/size/body region

Wikipedia : 77 Pleomorphic xanthoastrocytoma (PXA) is a brain tumor that occurs most frequently in children and... more...

Related Diseases for Pleomorphic Xanthoastrocytoma

Diseases related to Pleomorphic Xanthoastrocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 desmoplastic infantile ganglioglioma 30.6 GFAP SYP
2 astroblastoma 30.5 GFAP SYP
3 glioblastoma 30.5 BRAF IDH1 MGMT TP53
4 pilocytic astrocytoma 30.4 BRAF GFAP IDH1
5 rhabdoid cancer 30.4 SMARCB1 SYP TP53
6 glioma susceptibility 1 30.4 GFAP IDH1 TP53
7 glioma 30.2 BRAF IDH1 TP53
8 dysembryoplastic neuroepithelial tumor 30.2 GFAP IDH1 SYP
9 atypical teratoid rhabdoid tumor 30.1 GFAP SMARCB1 SYP TP53
10 glioblastoma multiforme 30.0 GFAP IDH1 MGMT TP53
11 grade iii astrocytoma 30.0 GFAP MGMT TP53
12 melanoma, cutaneous malignant 1 30.0 BRAF MGMT TP53
13 ganglioglioma 29.5 BRAF CHGA GFAP SMARCB1 SYP TP53
14 oligodendroglioma 29.5 GFAP IDH1 MGMT SYP TP53
15 giant cell glioblastoma 29.3 BRAF GFAP IDH1 MGMT SYP TP53
16 medulloblastoma 28.9 GFAP IDH1 MGMT SMARCB1 SYP TP53
17 anaplastic pleomorphic xanthoastrocytoma 12.5
18 neurofibromatosis, type i 10.5
19 neurofibromatosis, type iv, of riccardi 10.5
20 astrocytoma 10.5
21 subependymal giant cell astrocytoma 10.4 GFAP SYP
22 chondrosarcoma, extraskeletal myxoid 10.3 SMARCB1 SYP
23 papillary tumor of the pineal region 10.3 BRAF SYP
24 myoepithelioma 10.3 GFAP SMARCB1
25 neurilemmoma 10.3 GFAP SMARCB1
26 lung combined type small cell carcinoma 10.3 GFAP SYP
27 clear cell ependymoma 10.3 GFAP SYP
28 chiari malformation 10.3 GFAP SYP
29 melanotic medulloblastoma 10.3 GFAP SMARCB1
30 pineal parenchymal tumor of intermediate differentiation 10.3 IDH1 SYP
31 subependymal glioma 10.3 GFAP SYP
32 pineal gland cancer 10.3 GFAP SYP
33 oligoastrocytoma 10.3 GFAP MGMT
34 extraosseous chondrosarcoma 10.3 SMARCB1 SYP
35 nodular medulloblastoma 10.3 GFAP SMARCB1
36 melanotic neuroectodermal tumor 10.3 GFAP SYP
37 benign ependymoma 10.3 GFAP SYP
38 obstructive hydrocephalus 10.2 GFAP SYP
39 medulloepithelioma 10.2 GFAP SYP
40 anaplastic oligodendroglioma 10.2 GFAP MGMT
41 mixed cell type cancer 10.2 SYP TP53
42 optic nerve neoplasm 10.2 SYP TP53
43 arteriovenous malformation 10.2
44 epilepsy 10.2
45 basaloid squamous cell carcinoma 10.2 SYP TP53
46 cerebral primitive neuroectodermal tumor 10.2 SYP TP53
47 necrotizing sialometaplasia 10.2 GFAP TP53
48 juvenile pilocytic astrocytoma 10.2 GFAP TP53
49 nevus of ota 10.2 BRAF TP53
50 pilocytic astrocytoma of cerebellum 10.2 BRAF IDH1

Graphical network of the top 20 diseases related to Pleomorphic Xanthoastrocytoma:



Diseases related to Pleomorphic Xanthoastrocytoma

Symptoms & Phenotypes for Pleomorphic Xanthoastrocytoma

UMLS symptoms related to Pleomorphic Xanthoastrocytoma:


seizures

GenomeRNAi Phenotypes related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Pleomorphic Xanthoastrocytoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.8 BRAF CHGA GFAP IDH1 SMARCB1 TP53
2 mortality/aging MP:0010768 9.76 BRAF CHGA GFAP IDH1 MGMT SMARCB1
3 muscle MP:0005369 9.35 BRAF CHGA GFAP SMARCB1 TP53
4 nervous system MP:0003631 9.17 BRAF CHGA GFAP SMARCB1 SYP TP53

Drugs & Therapeutics for Pleomorphic Xanthoastrocytoma

Drugs for Pleomorphic Xanthoastrocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyproheptadine Approved Phase 3 129-03-3 2913
2
Histamine Approved, Investigational Phase 3 51-45-6 774
3 Dermatologic Agents Phase 3,Phase 1
4
Histamine Phosphate Phase 3 51-74-1 65513
5 Anti-Allergic Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 Histamine H1 Antagonists Phase 3
8 Serotonin Agents Phase 3
9 Serotonin Antagonists Phase 3
10 Antipruritics Phase 3
11 Gastrointestinal Agents Phase 3,Not Applicable
12 Histamine Antagonists Phase 3
13
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
14
Irinotecan Approved, Investigational Phase 1, Phase 2 100286-90-6, 97682-44-5 60838
15
Temozolomide Approved, Investigational Phase 1, Phase 2 85622-93-1 5394
16
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
17
Carboplatin Approved Phase 1, Phase 2,Phase 2 41575-94-4 38904 10339178 498142
18
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
19
Sodium Citrate Approved, Investigational Phase 1, Phase 2 68-04-2
20
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
21
Vincristine Approved, Investigational Phase 1, Phase 2,Phase 2 2068-78-2, 57-22-7 5978
22
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
23
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
24
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
25 Protein Kinase Inhibitors Phase 2,Phase 1
26 Piperazine citrate Phase 1, Phase 2
27 Anticonvulsants Phase 1, Phase 2
28 Antineoplastic Agents, Phytogenic Phase 1, Phase 2,Phase 2
29 DMP 777 Phase 1, Phase 2 157341-41-8
30 Antiparasitic Agents Phase 1, Phase 2
31 Topoisomerase Inhibitors Phase 1, Phase 2
32 Alkylating Agents Phase 1, Phase 2
33 Antimitotic Agents Phase 1, Phase 2,Phase 2
34 Citrate Phase 1, Phase 2
35 topoisomerase I inhibitors Phase 1, Phase 2
36 Antineoplastic Agents, Immunological Phase 1, Phase 2
37 Anthelmintics Phase 1, Phase 2
38 Anti-Infective Agents Phase 1, Phase 2
39 Antineoplastic Agents, Alkylating Phase 1, Phase 2
40 Angiogenesis Modulating Agents Phase 1, Phase 2
41 Angiogenesis Inhibitors Phase 1, Phase 2
42
Trioxsalen Approved Phase 1 3902-71-4 5585
43
Verteporfin Approved, Investigational Phase 1 129497-78-5
44
Nicotinamide Approved, Investigational Phase 1 98-92-0 936
45
Lenograstim Approved, Investigational Phase 1 135968-09-1
46
Gemcitabine Approved Phase 1 95058-81-4 60750
47
Niacin Approved, Investigational, Nutraceutical Phase 1 59-67-6 938
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
49 Photosensitizing Agents Phase 1
50 Dihematoporphyrin Ether Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
2 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
3 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine
4 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1 verteporfin
5 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1 imetelstat sodium
6 Phase 1b Study PVSRIPO for Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
7 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib
8 Longitudinal Analysis of the Health-related Quality of Life in Glioma Patients Recruiting NCT03849430
9 A Biospecimen Collection Study in BRAF-V600E Mutated Recurrent Gliomas Recruiting NCT03593993
10 Social Determinants of Health in Glioblastoma Population Not yet recruiting NCT03900689
11 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452 Not Applicable

Search NIH Clinical Center for Pleomorphic Xanthoastrocytoma

Genetic Tests for Pleomorphic Xanthoastrocytoma

Anatomical Context for Pleomorphic Xanthoastrocytoma

MalaCards organs/tissues related to Pleomorphic Xanthoastrocytoma:

42
Brain, Spinal Cord, Temporal Lobe, Pineal, Cerebellum, Testes, Retina

Publications for Pleomorphic Xanthoastrocytoma

Articles related to Pleomorphic Xanthoastrocytoma:

(show top 50) (show all 271)
# Title Authors Year
1
Anaplastic pleomorphic xanthoastrocytoma with leptomeningeal dissemination responsive to BRAF inhibition and bevacizumab. ( 30255633 )
2019
2
BRAF V600E-mutated central nervous system tumor with divergent morphological feature - Anaplastic pleomorphic xanthoastrocytoma-like and astroblastoma-like. ( 30557911 )
2019
3
Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma. ( 30609203 )
2019
4
A Case of Pleomorphic Xanthoastrocytoma with Intracranial Hemorrhage in a Child. ( 30701155 )
2019
5
BRAF activating mutations involving the I^3-I+C loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma. ( 29544532 )
2018
6
Peritumoral Edema Affects the Prognosis in Adult Pleomorphic Xanthoastrocytoma: Retrospective Analysis of 25 Patients. ( 29545226 )
2018
7
Clinicopathological and genetic association between epithelioid glioblastoma and pleomorphic xanthoastrocytoma. ( 29532523 )
2018
8
BRAF inhibition with concomitant tumor treating fields for a multiply progressive pleomorphic xanthoastrocytoma. ( 29708404 )
2018
9
Poliovirus Receptor (CD155) Expression in Pediatric Brain Tumors Mediates Oncolysis of Medulloblastoma and Pleomorphic Xanthoastrocytoma. ( 29878245 )
2018
10
Diagnostic accuracy of diffusion weighted imaging for differentiation of supratentorial pilocytic astrocytoma and pleomorphic xanthoastrocytoma. ( 29797290 )
2018
11
Combined Diffuse Astrocytoma and Pleomorphic Xanthoastrocytoma grade III sharing IDH1 R132H mutation. ( 29859360 )
2018
12
MR Imaging Features of Anaplastic Pleomorphic Xanthoastrocytoma Mimicking High-Grade Astrocytoma. ( 29903923 )
2018
13
Grade II Pleomorphic Xanthoastrocytoma; a meta-analysis of data from previously reported 167 cases. ( 29803334 )
2018
14
Impact of WHO 2016 update of brain tumor classification, molecular markers and clinical outcomes in pleomorphic xanthoastrocytoma. ( 29147864 )
2018
15
Pleomorphic Xanthoastrocytoma; Clinicopathological spectrum of An Intriguing neoplasm. ( 29805393 )
2018
16
Intraventricular Anaplastic Pleomorphic Xanthoastrocytoma: Very Rare Localization and Early Recurrence of a Rare Tumor. ( 30042916 )
2018
17
The genetic landscape of anaplastic pleomorphic xanthoastrocytoma. ( 30051528 )
2018
18
Response to BRAF/MEK Inhibition After Progression With BRAF Inhibition in a Patient With Anaplastic Pleomorphic Xanthoastrocytoma. ( 30169370 )
2018
19
Complete Remission of an Extracranially Disseminated Anaplastic Pleomorphic Xanthoastrocytoma With Everolimus: A Case Report and Literature Review. ( 30322731 )
2018
20
Anaplastic Pleomorphic Xanthoastrocytoma Presenting with Musical Hallucination. ( 30534452 )
2018
21
Clinico-Histomorphological and Immunohistochemical Profile of Anaplastic Pleomorphic Xanthoastrocytoma: Report of Five Cases and Review of Literature. ( 30774826 )
2018
22
Malignant Conversion to Glioblastoma in Neurofibromatosis Type I-associated Pleomorphic Xanthoastrocytoma: Unknown Predictors of Favorable Outcome. ( 30283557 )
2018
23
Pleomorphic xanthoastrocytoma arising from the pituitary stalk. ( 30038125 )
2018
24
Bevacizumab, irinotecan, temozolomide, tyrosine kinase inhibition, and MEK inhibition are effective against pleomorphic xanthoastrocytoma regardless of V600E status. ( 30120661 )
2018
25
A rare clinical presentation: a pleomorphic xanthoastrocytoma presenting with intracerebral haemorrhage and metastasizing vigorously-case report and review of the literature. ( 30182181 )
2018
26
BRAF V600E, TERT, and IDH2 Mutations in Pleomorphic Xanthoastrocytoma: Observations from a Large Case-Series Study. ( 30240866 )
2018
27
Molecular features of pleomorphic xanthoastrocytoma. ( 30496796 )
2018
28
Spinal Pleomorphic Xanthoastrocytoma With a QKI-RAF1 Fusion. ( 30517658 )
2018
29
Role of a Promoter Mutation in the Telomerase Reverse Transcriptase Gene in Malignant Transformation of Pleomorphic Xanthoastrocytoma. ( 30599247 )
2018
30
Long-term Efficacy of Single-agent Vemurafenib for Pleomorphic Xanthoastrocytoma. ( 30601402 )
2018
31
Cytologic features of pleomorphic xanthoastrocytoma, WHO grade II. A comparative study with glioblastoma. ( 28084690 )
2017
32
Ganglioglioma progression to combined anaplastic ganglioglioma and anaplastic pleomorphic xanthoastrocytoma. Case report and literature review. ( 28939541 )
2017
33
An infratentorial pure pleomorphic xanthoastrocytoma arising from middle cerebellar peduncle: a rare location of an uncommon tumor. ( 29288852 )
2017
34
Recurrent copy number alterations in low-grade and anaplastic pleomorphic xanthoastrocytoma with and without BRAF V600E mutation. ( 28181325 )
2017
35
Parieto-temporal pleomorphic xanthoastrocytoma in a black African child. ( 28484558 )
2017
36
Dabrafenib in BRAFV600-mutated anaplastic pleomorphic xanthoastrocytoma. ( 27781490 )
2017
37
Anaplastic Pleomorphic Xanthoastrocytoma in a Case of Neurofibromatosis Type 1: A Case Report. ( 28571159 )
2017
38
Xenotransplantation of pediatric low grade gliomas confirms the enrichment of<i>BRAF</i>V600E mutation and preservation of<i>CDKN2A</i>deletion in a novel orthotopic xenograft mouse model of progressive pleomorphic xanthoastrocytoma. ( 29152094 )
2017
39
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. ( 28699883 )
2017
40
Primary pleomorphic xanthoastrocytoma of the spinal cord: A case report and review of literature. ( 28761545 )
2017
41
BRAF/MEK double blockade in refractory anaplastic pleomorphic xanthoastrocytoma. ( 28235815 )
2017
42
Sustained Response to Targeted Therapy in a Patient With Disseminated Anaplastic Pleomorphic Xanthoastrocytoma. ( 29200156 )
2017
43
A novel, potentially targetable TMEM106B-BRAF fusion in pleomorphic xanthoastrocytoma. ( 28299358 )
2017
44
Atypical teratoid rhabdoid tumor arising in a pleomorphic xanthoastrocytoma: a rare entity. ( 28502320 )
2017
45
Pleomorphic Xanthoastrocytoma with anaplastic features: a retrospective case series. ( 27476694 )
2016
46
Pleomorphic Xanthoastrocytoma with Anaplastic Features in the Tectal Region in a Young Adult Patient: A Case Report. ( 27521728 )
2016
47
Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review. ( 27506610 )
2016
48
MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma. ( 27253461 )
2016
49
BRAF-Mutated Pleomorphic Xanthoastrocytoma of the Spinal Cord with Eventual Anaplastic Transformation. ( 27956254 )
2016
50
Activating NRF1-BRAF and ATG7-RAF1 fusions in anaplastic pleomorphic xanthoastrocytoma without BRAF p.V600E mutation. ( 27624885 )
2016

Variations for Pleomorphic Xanthoastrocytoma

ClinVar genetic disease variations for Pleomorphic Xanthoastrocytoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh37 Chromosome 17, 7577094: 7577094
2 TP53 NM_000546.5(TP53): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs28934574 GRCh38 Chromosome 17, 7673776: 7673776
3 subset of 683 genes:AUTS2; BRAF; CAMK2B; ELN; FOXP2; GLI3; SEMA3A; SGCE; TBX20; TWIST1 TMEM106B-BRAF fusion deletion Pathogenic GRCh37 Chromosome 7, 12258147: 140494267

Copy number variations for Pleomorphic Xanthoastrocytoma from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38148 10 1 135374737 Gain Pleomorphic xanthoastrocytoma
2 157040 21 1 46944323 Gain Pleomorphic xanthoastrocytoma
3 157748 21 22668778 24107000 Heterozygous deletio n Pleomorphic xanthoastrocytoma
4 158799 21 37028079 37104999 Heterozygous deletio n Pleomorphic xanthoastrocytoma
5 158888 21 37727512 38987173 Heterozygous deletio n Pleomorphic xanthoastrocytoma
6 161080 22 17257787 19792353 Heterozygous deletio n Pleomorphic xanthoastrocytoma
7 217044 7 1 158821424 Gain Pleomorphic xanthoastrocytoma
8 244852 9 1 140273252 Copy number LOH Pleomorphic xanthoastrocytoma
9 250077 9 19930143 20420468 Duplication with LOH Pleomorphic xanthoastrocytoma
10 250201 9 20451775 23120500 Homozygous deletion Pleomorphic xanthoastrocytoma

Expression for Pleomorphic Xanthoastrocytoma

Search GEO for disease gene expression data for Pleomorphic Xanthoastrocytoma.

Pathways for Pleomorphic Xanthoastrocytoma

Pathways related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 BRAF MGMT TP53

GO Terms for Pleomorphic Xanthoastrocytoma

Cellular components related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.8 BRAF GFAP TUBB

Biological processes related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 8.96 BRAF GFAP
2 cellular response to ionizing radiation GO:0071479 8.62 MGMT TP53

Molecular functions related to Pleomorphic Xanthoastrocytoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 BRAF GFAP IDH1 SYP TP53

Sources for Pleomorphic Xanthoastrocytoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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