BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease

The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular...

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Published inActa neuropathologica communications Vol. 7; no. 1; pp. 168 - 13
Main Authors Picarsic, J., Pysher, T., Zhou, H., Fluchel, M., Pettit, T., Whitehead, M., Surrey, L. F., Harding, B., Goldstein, G., Fellig, Y., Weintraub, M., Mobley, B. C., Sharples, P. M., Sulis, M. L., Diamond, E. L., Jaffe, R., Shekdar, K., Santi, M.
Format Journal Article
LanguageEnglish
Published London BioMed Central 04.11.2019
BioMed Central Ltd
BMC
Subjects
Algorithms
Biomedical and Life Sciences
Biomedicine
BRAF V600E
Central nervous system
Chemotherapy
Child health
CNS
Dabrafenib
Diagnosis
Future predictions
Gene mutation
Genetic aspects
Histiocytosis
Immunohistochemistry
Juvenile Xanthogranuloma
JXG
Neurology
Neurosciences
Pathology
Pediatric
Pediatric diseases
Pediatrics
Surgery
Tumors
V600E
LCH
Juvenile Xanthogranuloma
Central nervous system
ECD
JXG
CNS
Erdheim-Chester disease
Pediatric
BRAF V600E
Online AccessGet full text
ISSN2051-5960
2051-5960
DOI10.1186/s40478-019-0811-6

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Abstract The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% ( n  = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% ( n  = 10) were pediatric cases (≤18 years) and half ( n  = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [ BRAF  V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio ( BRAF  V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease (  BRAF V600E: 80% vs WT: 20%) and systemic disease ( BRAF  V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
AbstractList The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases ([less than or equai to]18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3-12 y), vs. WT: 7.6 years (1-18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
Abstract The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases ([less than or equai to]18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3-12 y), vs. WT: 7.6 years (1-18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD. Keywords: BRAF V600E, Juvenile Xanthogranuloma, JXG, Central nervous system, CNS, Pediatric, Erdheim-Chester disease, ECD, LCH
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% ( n  = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% ( n  = 10) were pediatric cases (≤18 years) and half ( n  = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [ BRAF  V600E: 7 years (3–12 y), vs. WT: 7.6 years (1–18 y)] but demonstrated a stronger male/female ratio ( BRAF  V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease (  BRAF V600E: 80% vs WT: 20%) and systemic disease ( BRAF  V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3-12 y), vs. WT: 7.6 years (1-18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. This retrospective case series seeks to redefine the clinicopathologic spectrum of pediatric CNS-JXG family neoplasms in the post-BRAF era, with a revised diagnostic algorithm to include pediatric ECD. Twenty-two CNS-JXG family lesions were retrieved from consult files with 64% (n = 14) having informative BRAF V600E mutational testing (molecular and/or VE1 immunohistochemistry). Of these, 71% (n = 10) were pediatric cases (≤18 years) and half (n = 5) harbored the BRAF V600E mutation. As compared to the BRAF wild-type cohort (WT), the BRAF V600E cohort had a similar mean age at diagnosis [BRAF V600E: 7 years (3-12 y), vs. WT: 7.6 years (1-18 y)] but demonstrated a stronger male/female ratio (BRAF V600E: 4 vs WT: 0.67), and had both more multifocal CNS disease ( BRAFV600E: 80% vs WT: 20%) and systemic disease (BRAF V600E: 40% vs WT: none). Radiographic features of CNS-JXG varied but typically included enhancing CNS mass lesion(s) with associated white matter changes in a subset of BRAF V600E neoplasms. After clinical-radiographic correlation, pediatric ECD was diagnosed in the BRAF V600E cohort. Treatment options varied, including surgical resection, chemotherapy, and targeted therapy with BRAF-inhibitor dabrafenib in one mutated case. BRAF V600E CNS-JXG neoplasms appear associated with male gender and aggressive disease presentation including pediatric ECD. We propose a revised diagnostic algorithm for CNS-JXG that includes an initial morphologic diagnosis with a final integrated diagnosis after clinical-radiographic and molecular correlation, in order to identify cases of pediatric ECD. Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD.
ArticleNumber 168
Audience Academic
Author Mobley, B. C.
Picarsic, J.
Sharples, P. M.
Fellig, Y.
Diamond, E. L.
Surrey, L. F.
Sulis, M. L.
Whitehead, M.
Weintraub, M.
Zhou, H.
Harding, B.
Goldstein, G.
Pysher, T.
Fluchel, M.
Santi, M.
Shekdar, K.
Jaffe, R.
Pettit, T.
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  orcidid: 0000-0002-3718-6422
  surname: Picarsic
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  email: jenpicarsic@gmail.com
  organization: Department of Pathology, University of Pittsburgh School of Medicine, UPMC Children’s Hospital of Pittsburgh
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  surname: Pysher
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  organization: Department of Pathology, University of Utah, Primary Children’s Hospital
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  surname: Zhou
  fullname: Zhou, H.
  organization: Department of Pathology, University of Utah, Primary Children’s Hospital
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  organization: Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia
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  fullname: Goldstein, G.
  organization: Department of Pediatric Hematology-Oncology, Hadassah University Hospital
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  organization: Department of Pathology, Hadassah Hebrew University Medical Center
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  organization: Department of Pediatrics, Memorial Sloan Kettering Cancer Center
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/31685033$$D View this record in MEDLINE/PubMed
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Cites_doi 10.1007/s00234-002-0819-6
10.1016/j.phoj.2017.09.004
10.1016/j.braindev.2006.08.013
10.1097/01.pas.0000147395.01229.06
10.18632/oncotarget.17521
10.1182/blood-2018-10-878363
10.1177/1093526618806423
10.1182/blood-2014-03-561381
10.1182/blood-2016-01-690636
10.1016/j.xocr.2019.100124
10.1007/s00381-015-2929-6
10.1097/00000372-199610000-00008
10.2350/09-03-0622-oa.1
10.1084/jem.20130977
10.1093/jnen/nlx095
10.1200/jco.2014.57.1950
10.1093/brain/awh403
10.1182/blood-2010-06-294108
10.1001/jamaoncol.2017.5029
10.1038/s41379-018-0168-6
10.1172/jci.insight.89473
10.1002/pbc.20246
10.1016/j.jocn.2012.05.019
10.1038/nature23672
10.1002/pbc.27548
10.1159/000180303
10.1182/blood-2013-12-543793
10.1038/modpathol.2017.55
10.5070/D3228032091
10.1182/blood-2016-06-725143
10.1111/j.1525-1470.1993.tb00018.x
10.1111/cup.13285
10.1038/s41586-019-1012-y
10.1182/bloodadvances.2016001784
10.1182/blood-2012-07-446286
10.1002/cncr.31348
10.3171/jns.2000.93.2.0335
10.1182/blood-2010-04-279083
10.1111/bjd.17420
10.3324/haematol.2018.190934
10.1097/00000478-200305000-00003
10.1158/2159-8290.cd-15-0913
10.1182/blood-2018-03-839753
10.1016/S0190-9622(86)70049-2
10.1002/pbc.21252
10.1007/s00701-016-2811-7
10.1016/j.humpath.2017.04.026
10.1182/bloodadvances.2019000093
10.1212/nxi.0000000000000078
10.1182/blood-2012-05-430140
10.18632/oncotarget.5761
10.1007/s00401-016-1545-1
10.1016/j.ajoc.2017.09.004
10.1016/j.hoc.2015.06.004
10.1186/s13023-016-0490-3
10.1002/ana.25281
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Issue 1
Keywords V600E
LCH
Juvenile Xanthogranuloma
Central nervous system
ECD
JXG
CNS
Erdheim-Chester disease
Pediatric
BRAF V600E
Language English
License Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
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References S Garces (811_CR28) 2017; 30
J Bostrom (811_CR6) 2000; 93
S Kumandas (811_CR39) 2007; 29
MR Khan (811_CR37) 2017; 2
JI Estrada-Veras (811_CR23) 2017; 1
KL McClain (811_CR45) 2018; 124
TE Richardson (811_CR52) 2018; 84
EL Diamond (811_CR14) 2016; 128
G Badalian-Very (811_CR3) 2010; 116
Jennifer Picarsic (811_CR50) 2017
811_CR51
J Haroche (811_CR32) 2015; 33
811_CR10
B Wang (811_CR58) 2016; 158
EL Diamond (811_CR15) 2014; 124
EL Diamond (811_CR16) 2016; 6
KTE Chang (811_CR12) 2019; 32
R Chakraborty (811_CR11) 2017; 8
I Tamir (811_CR55) 2013; 20
D Janssen (811_CR36) 2005; 29
S Weitzman (811_CR59) 2005; 45
ML Berres (811_CR5) 2014; 211
EL Diamond (811_CR19) 2018; 4
N Grois (811_CR29) 2005; 128
Baptiste Hervier (811_CR34) 2014; 124
S Kim (811_CR38) 2016; 32
LP Dehner (811_CR13) 2003; 27
Olive S. Eckstein (811_CR20) 2019; 133
P Euskirchen (811_CR24) 2015; 2
G Fatobene (811_CR25) 2018; 103
P Meyer (811_CR46) 2018; 9
L Arnaud (811_CR2) 2011; 117
E Mass (811_CR43) 2017; 549
EC Castro (811_CR9) 2010; 13
R Botella-Estrada (811_CR7) 1993; 10
F Bellinato (811_CR4) 2019; 180
U Ernemann (811_CR22) 2002; 44
Z Pan (811_CR48) 2017; 76
O Abla (811_CR1) 2018; 131
EL Diamond (811_CR17) 2019; 567
811_CR35
JF Emile (811_CR21) 2016; 127
DB Flach (811_CR26) 1986; 14
811_CR33
J Haroche (811_CR31) 2013; 121
BW Zelger (811_CR60) 1996; 18
WH Burgdorf (811_CR8) 1996; 58
BJ Rollins (811_CR53) 2015; 29
DH Fulkerson (811_CR27) 2008; 44
EL Diamond (811_CR18) 2016; 11
811_CR49
Kristen N. Ruby (811_CR54) 2018; 45
811_CR41
R Mastropolo (811_CR44) 2019; 3
A Orsey (811_CR47) 2008; 50
SM Tittman (811_CR57) 2019; 12
LH Lee (811_CR40) 2017; 2
J Haroche (811_CR30) 2012; 120
DN Louis (811_CR42) 2016; 131
P Techavichit (811_CR56) 2017; 69
References_xml – volume: 44
  start-page: 759
  year: 2002
  ident: 811_CR22
  publication-title: Neuroradiology
  doi: 10.1007/s00234-002-0819-6
– volume: 2
  start-page: 59
  year: 2017
  ident: 811_CR37
  publication-title: Pediatr Hematol Oncol J
  doi: 10.1016/j.phoj.2017.09.004
– volume: 29
  start-page: 227
  year: 2007
  ident: 811_CR39
  publication-title: Brain Dev
  doi: 10.1016/j.braindev.2006.08.013
– volume: 29
  start-page: 21
  year: 2005
  ident: 811_CR36
  publication-title: Am J Surg Pathol
  doi: 10.1097/01.pas.0000147395.01229.06
– volume: 8
  start-page: 46065
  year: 2017
  ident: 811_CR11
  publication-title: Oncotarget
  doi: 10.18632/oncotarget.17521
– volume: 133
  start-page: 1691
  issue: 15
  year: 2019
  ident: 811_CR20
  publication-title: Blood
  doi: 10.1182/blood-2018-10-878363
– ident: 811_CR41
  doi: 10.1177/1093526618806423
– volume: 124
  start-page: 483
  year: 2014
  ident: 811_CR15
  publication-title: Blood
  doi: 10.1182/blood-2014-03-561381
– volume: 127
  start-page: 2672
  year: 2016
  ident: 811_CR21
  publication-title: Blood
  doi: 10.1182/blood-2016-01-690636
– volume: 12
  start-page: 100124
  year: 2019
  ident: 811_CR57
  publication-title: Otolaryngol Case Rep
  doi: 10.1016/j.xocr.2019.100124
– volume: 32
  start-page: 893
  year: 2016
  ident: 811_CR38
  publication-title: Childs Nerv Syst
  doi: 10.1007/s00381-015-2929-6
– volume: 18
  start-page: 490
  year: 1996
  ident: 811_CR60
  publication-title: Am J Dermatopathol
  doi: 10.1097/00000372-199610000-00008
– volume: 13
  start-page: 225
  year: 2010
  ident: 811_CR9
  publication-title: Pediatr Dev Pathol
  doi: 10.2350/09-03-0622-oa.1
– volume: 211
  start-page: 669
  year: 2014
  ident: 811_CR5
  publication-title: J Exp Med
  doi: 10.1084/jem.20130977
– volume: 76
  start-page: 986
  year: 2017
  ident: 811_CR48
  publication-title: J Neuropathol Exp Neurol
  doi: 10.1093/jnen/nlx095
– volume: 33
  start-page: 411
  year: 2015
  ident: 811_CR32
  publication-title: J Clin Oncol
  doi: 10.1200/jco.2014.57.1950
– volume: 128
  start-page: 829
  year: 2005
  ident: 811_CR29
  publication-title: Brain
  doi: 10.1093/brain/awh403
– volume: 117
  start-page: 2778
  year: 2011
  ident: 811_CR2
  publication-title: Blood
  doi: 10.1182/blood-2010-06-294108
– volume: 4
  start-page: 384
  year: 2018
  ident: 811_CR19
  publication-title: JAMA Oncol
  doi: 10.1001/jamaoncol.2017.5029
– ident: 811_CR10
  doi: 10.18632/oncotarget.17521
– volume: 32
  start-page: 598
  year: 2019
  ident: 811_CR12
  publication-title: Mod Pathol
  doi: 10.1038/s41379-018-0168-6
– volume: 2
  year: 2017
  ident: 811_CR40
  publication-title: JCI Insight
  doi: 10.1172/jci.insight.89473
– volume: 45
  start-page: 256
  year: 2005
  ident: 811_CR59
  publication-title: Pediatr Blood Cancer
  doi: 10.1002/pbc.20246
– volume: 20
  start-page: 183
  year: 2013
  ident: 811_CR55
  publication-title: J Clin Neurosci
  doi: 10.1016/j.jocn.2012.05.019
– volume: 549
  start-page: 389
  year: 2017
  ident: 811_CR43
  publication-title: Nature
  doi: 10.1038/nature23672
– volume: 58
  start-page: 201
  year: 1996
  ident: 811_CR8
  publication-title: Cutis
– ident: 811_CR49
  doi: 10.1002/pbc.27548
– volume: 44
  start-page: 480
  year: 2008
  ident: 811_CR27
  publication-title: Pediatr Neurosurg
  doi: 10.1159/000180303
– volume: 124
  start-page: 1119
  issue: 7
  year: 2014
  ident: 811_CR34
  publication-title: Blood
  doi: 10.1182/blood-2013-12-543793
– volume: 30
  start-page: 1367
  year: 2017
  ident: 811_CR28
  publication-title: Mod Pathol
  doi: 10.1038/modpathol.2017.55
– ident: 811_CR51
  doi: 10.5070/D3228032091
– start-page: 3
  volume-title: Histiocytic Disorders
  year: 2017
  ident: 811_CR50
– volume: 128
  start-page: 1896
  year: 2016
  ident: 811_CR14
  publication-title: Blood
  doi: 10.1182/blood-2016-06-725143
– ident: 811_CR33
– volume: 10
  start-page: 64
  year: 1993
  ident: 811_CR7
  publication-title: Pediatr Dermatol
  doi: 10.1111/j.1525-1470.1993.tb00018.x
– volume: 45
  start-page: 667
  issue: 9
  year: 2018
  ident: 811_CR54
  publication-title: Journal of Cutaneous Pathology
  doi: 10.1111/cup.13285
– volume: 567
  start-page: 521
  year: 2019
  ident: 811_CR17
  publication-title: Nature
  doi: 10.1038/s41586-019-1012-y
– volume: 1
  start-page: 357
  year: 2017
  ident: 811_CR23
  publication-title: Blood Adv
  doi: 10.1182/bloodadvances.2016001784
– volume: 121
  start-page: 1495
  year: 2013
  ident: 811_CR31
  publication-title: Blood
  doi: 10.1182/blood-2012-07-446286
– volume: 124
  start-page: 2607
  year: 2018
  ident: 811_CR45
  publication-title: Cancer
  doi: 10.1002/cncr.31348
– volume: 93
  start-page: 335
  year: 2000
  ident: 811_CR6
  publication-title: Case report J Neurosurg
  doi: 10.3171/jns.2000.93.2.0335
– volume: 116
  start-page: 1919
  year: 2010
  ident: 811_CR3
  publication-title: Blood
  doi: 10.1182/blood-2010-04-279083
– volume: 180
  start-page: 933
  year: 2019
  ident: 811_CR4
  publication-title: Br J Dermatol
  doi: 10.1111/bjd.17420
– volume: 103
  start-page: e377
  year: 2018
  ident: 811_CR25
  publication-title: Haematologica
  doi: 10.3324/haematol.2018.190934
– volume: 27
  start-page: 579
  year: 2003
  ident: 811_CR13
  publication-title: Am J Surg Pathol
  doi: 10.1097/00000478-200305000-00003
– volume: 6
  start-page: 154
  year: 2016
  ident: 811_CR16
  publication-title: Cancer discovery
  doi: 10.1158/2159-8290.cd-15-0913
– volume: 131
  start-page: 2877
  year: 2018
  ident: 811_CR1
  publication-title: Blood
  doi: 10.1182/blood-2018-03-839753
– volume: 14
  start-page: 405
  year: 1986
  ident: 811_CR26
  publication-title: J Am Acad Dermatol
  doi: 10.1016/S0190-9622(86)70049-2
– volume: 50
  start-page: 927
  year: 2008
  ident: 811_CR47
  publication-title: Pediatr Blood Cancer
  doi: 10.1002/pbc.21252
– volume: 158
  start-page: 1289
  year: 2016
  ident: 811_CR58
  publication-title: Acta Neurochir
  doi: 10.1007/s00701-016-2811-7
– volume: 69
  start-page: 118
  year: 2017
  ident: 811_CR56
  publication-title: Hum Pathol
  doi: 10.1016/j.humpath.2017.04.026
– volume: 3
  start-page: 1848
  year: 2019
  ident: 811_CR44
  publication-title: Blood Adv
  doi: 10.1182/bloodadvances.2019000093
– volume: 2
  year: 2015
  ident: 811_CR24
  publication-title: Neurol Neuroimmunol Neuroinflamm
  doi: 10.1212/nxi.0000000000000078
– volume: 120
  start-page: 2700
  year: 2012
  ident: 811_CR30
  publication-title: Blood
  doi: 10.1182/blood-2012-05-430140
– ident: 811_CR35
  doi: 10.18632/oncotarget.5761
– volume: 131
  start-page: 803
  year: 2016
  ident: 811_CR42
  publication-title: Acta Neuropathol
  doi: 10.1007/s00401-016-1545-1
– volume: 9
  start-page: 10
  year: 2018
  ident: 811_CR46
  publication-title: Am J Ophthalmol Case Rep
  doi: 10.1016/j.ajoc.2017.09.004
– volume: 29
  start-page: 839
  year: 2015
  ident: 811_CR53
  publication-title: Hematol Oncol Clin North Am
  doi: 10.1016/j.hoc.2015.06.004
– volume: 11
  start-page: 109
  year: 2016
  ident: 811_CR18
  publication-title: Orphanet J Rare Dis
  doi: 10.1186/s13023-016-0490-3
– volume: 84
  start-page: 147
  year: 2018
  ident: 811_CR52
  publication-title: Ann Neurol
  doi: 10.1002/ana.25281
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Snippet The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which includes...
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes...
Abstract The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the “L” (Langerhans) group, which...
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SubjectTerms Algorithms
Biomedical and Life Sciences
Biomedicine
BRAF V600E
Central nervous system
Chemotherapy
Child health
CNS
Dabrafenib
Diagnosis
Future predictions
Gene mutation
Genetic aspects
Histiocytosis
Immunohistochemistry
Juvenile Xanthogranuloma
JXG
Neurology
Neurosciences
Pathology
Pediatric
Pediatric diseases
Pediatrics
Surgery
Tumors
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Title BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease
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