Compendium of Cancer Genome Aberrations

HAEM5:Juvenile xanthogranuloma: Difference between revisions

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{{DISPLAYTITLE:Juvenile xanthogranuloma}}
{{DISPLAYTITLE:Juvenile xanthogranuloma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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==Primary Author(s)*==
==Primary Author(s)*==


Put your text here<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>
Mayuri Shende, MBBS, DCP, FCPS, DNB, ASCP-SH, MD
 
__TOC__


<span style="color:#0070C0">Scott Turner, PhD </span>
==WHO Classification of Disease==
==WHO Classification of Disease==


Line 36: Line 36:
==Definition / Description of Disease==
==Definition / Description of Disease==


Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
Juvenile Xanthogranuloma (JXG) is a clonal expansion of non–Langerhans cell histiocytes with dermal macrophage phenotype.  


==Synonyms / Terminology==
==Synonyms / Terminology==


Put your text here <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
Juvenile Xanthogranuloma


==Epidemiology / Prevalence==
==Epidemiology / Prevalence==


Put your text here
Juvenile Xanthogranuloma is a rare histiocytic neoplasm comprising approximately 0.5% of all pediatric tumors. JXG is seldom seen in in adults. 20-35% cases are congenital, showing male predilection. Predominantly (>70%) cases arise during the first year of life.


==Clinical Features==
==Clinical Features==


Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
JXG lesions are generally asymptomatic; their appearance is typically different in adult and pediatric settings. Infants may present with ≥1 cutaneous, pale yellow-tan, dome-shaped papulonodular lesions. Approximately 5% of patients present with multiple lesions. Typically lesions begin as raised, pink to dark-brown lesions that may become less elevated over time. Spontaneous resolution of some lesions, leaving residual scarring or wrinkling, may occur after months or years. A clinical subtype of JXG called benign cephalic histiocytosis presents with asymptomatic self-healing papular lesions involving the head and neck of young children. 
 
In adult JXG, lesions are often large, solitary and persistent; in this context Erdheim–Chester disease is an important differential diagnosis.  
 
JXG may occur in patients with neurofibromatosis type 1 and is also reported in Wiskott–Aldrich syndrome.
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
|Initially asymptomatic
 
≥1 cutaneous papulonodular lesions
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
 
<span class="blue-text">EXAMPLE:</span> Fatigue


<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
Rarely: systemic involvement with cytopenias, abnormal hepatic or metabolic function, ophthalmological involvement, or neurological involvement leading to seizures, hydrocephalus, or diabetes insipidus
|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
|Abnormal liver enzymes and metabolic tests
 
Cytopenia in cases with bone marrow involvement
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
|}


==Sites of Involvement==
==Sites of Involvement==


Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
JXG commonly involves, and is generally confined to, the skin of the head and neck, upper trunk and proximal extremities. Solitary ocular lesions occur but are rare. Other rare extracutaneous sites of involvement include viscera, and paraspinal or intracranial regions. 


==Morphologic Features==
==Morphologic Features==


Put your text here
'''Gross appearance:'''
 
Cutaneous JXGs: Early lesions are orange-red papules/macules, later progress to form pale to tan, dome shaped lesions.
 
Visceral JXGs: Nodules with variable size and appearance.
 
'''Histopathology:'''
 
*Unencapsulated, circumscribed lesions composed of classic histiocytes, large xanthomatous histiocytes, foamy histiocytes and Touton giant cells.
*Variable numbers of lymphocytes, eosinophils, plasma cells, neutrophils, and mast cells are often intermixed along with epithelioid cells, spindle cells and oncocytic histiocytes.
*These histiocytes should not  show significant nuclear pleomorphism.
 
'''Cytology''':
 
*Mononuclear or multinucleated histiocytes with kidney shaped/oval nuclei, variable numbers of lymphocytes, neutrophils, and eosinophils.
*Touton giant cells or foreign body giant cells may be present.
 
{| class="wikitable"
|+'''WHO Diagnostic criteria'''
!Essential
!A circumscribed lesion comprising histiocytes (commonly foamy) lacking significant nuclear pleomorphism; dermal macrophage immunophenotype (CD68, CD163, and factor XIIIa); negativity for CD1a, CD207 (langerin), and ALK
|-
|'''Desirable'''
|Touton giant cells; clinical exclusion of Erdheim–Chester disease.
|}


==Immunophenotype==
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|Positive (universal)||CD68, CD163, CD4, CD14, factor XIIIa, and fascin
|-
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|Positive (subset)||S100 (light nuclear and cytoplasmic staining)
|-
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|Negative (universal)||CD1a and CD207 (langerin), ALK
|-
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|Negative (subset)||N/A
|}
|}


==Chromosomal Rearrangements (Gene Fusions)==
==Chromosomal Rearrangements (Gene Fusions)==
Put your text here and fill in the table


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|''NTRK1'' fusions||''TPM3::NTRK1 fusion''
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
''PRDX1–NTRK1''
|Yes
|Unknown||Unknown
|No
|Unknown
|Yes
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|Unknown
|Often associated with localized xanthogranuloma. [3]
|-
|''BRAF'' fusions
|''FNBP1-BRAF''
''RNF11-BRAF''
 
''MS4A6A::BRAF'' ''BICD2::BRAF''
 
''GAB2-BRAF''
|Unknown
|Unknown
|Unknown
|Unknown
|Disseminated JXG with ''GAB2::BRAF'' fusion showed favorable response to treatment with Trametinib (MEK1/2 inhibitor). [5]
|BRAF gene fusions are seen more often in adult and juvenile JXG compared to other histiocytic disorders. [10]
|-
|''RET'' fusions
|''NCOA4–RET'' rearrangement
|Unknown
|Unknown
|Unknown
|Unknown
|Treatment with RET inhibitor Selpercatinib showed dramatic resolution of disfiguring skin lesions. [11]
|Disseminated cutaneous–xanthogranuloma [11]
|-
|''SYK'' fusions
|''CLTC::SYK'' fusions
 
Breakpoints in exon 5 or intron 5 of SYK (resulting in alternative splicing through exon skipping) lead to the fusion of SYK exon 6 to ''CLTC'' exon 31


The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
ETV6::SYK fusion
|Unknown
|Unknown
|Unknown
|Unknown
|May respond to  oral SYK inhibitors-fostamatinib and entospletinib [12]
|Lacks or shows rare touton giant cells [12]  IHC staining shows strong positivity for p-SYK, positive for cyclin D1 and p-S6. p-Akt negative. [12]
Children between 2 months and 2 years of age with soft tissue involvement and no or limited cutaneous involvement. [12]
|-
|''ALK'' fusions/rearrangements
|''KIF5B::ALK''
''TPM3::ALK''
|Unknown
|Unknown
|Unknown
|Unknown
|A pediatric patient with systemic JXG, CNS lesions and  KIF5B-ALK fusion achieved clinical improvement with ALK-inhibitor Alectinib therapy. [7]
|A unique group of infants with an aggressive form of JXG with spleen, liver, and bone marrow showed infiltration with histiocytes with activating ALK fusions. [8] KIF5B–ALK seen in systemic JXG with CNS involvement. [7]
|-
|''MRC1::PDGFRB'' fusion
|t(5;10)(q32; p12.33) translocation
|in-frame ''MRC1-PDGFRB'' gene fusion
Can be seen with large deletion of exons 21 and 22 [12]
|Unknown
|Unknown
|Unknown
|Targeted therapy of treatment resistant systemic JXG with Dasatinib showed a steady and dramatic clinical response with a reduction in the size of the primary tumor. [9]
|A 3 month old female with a large JXG intra-abdominal tumor involving the greater omentum, intestinal walls and hepatic hilum achieved complete remission without relapse during 24 years of follow up. Testing showed a large deletion of exons 21 and 22 of CSF1R in parallel with MRC1::PDGFRB fusion. [12] IHC staining showed diffuse expression of cyclin D1 in tumor cells.[9] A child with chemotherapy-refractory left chest wall JXG, MRC1::PDGFRB fusion was treated with dasatinib and demonstrated clinical and radiological reduction in size and metabolic activity of the tumor mass. [12]
|-
|''TBL1XR1::BOD1L1'' fusion (and reciprocal BOD1L1::ABHD10)
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unifocal soft tissue JXG in the nasopharynx [12]
|}
|}
==Individual Region Genomic Gain / Loss / LOH==
==Individual Region Genomic Gain / Loss / LOH==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|17
 
|Gain
7
|Unknown
|<span class="blue-text">EXAMPLE:</span> Loss
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|Unknown
 
|Unknown
chr7:1- 159,335,973 [hg38]
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|Diffuse cutaneous juvenile xanthogranuloma [2]
 
|-
chr7
|5
|Yes
|Gain, Heterozygosity
|Yes
|Unknown
|No
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|Unknown
 
|Unknown
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
|Unknown
|Trisomy 5 and 5q heterozygosity in diffuse cutaneous juvenile xanthogranuloma [2]
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|3
 
|Loss
8
|Unknown
|<span class="blue-text">EXAMPLE:</span> Gain
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|Unknown
 
|Unknown
chr8:1-145,138,636 [hg38]
|Unknown
|<span class="blue-text">EXAMPLE:</span>
|3p deletion in systemic juvenile xanthogranuloma [2]
 
chr8
|No
|No
|No
|<span class="blue-text">EXAMPLE:</span>
 
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|Gains on 1q and 11q
 
|Unknown
Co-deletion of 1p and 18q
|Unknown
|Yes
|Unknown
|No
|Gains on 1q and 11q in  systemic juvenile xanthogranuloma [2]
|No
|<span class="blue-text">EXAMPLE:</span>
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}
==Gene Mutations (SNV / INDEL)==
==Gene Mutations (SNV / INDEL)==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC /  TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
|''MAP2K1''
|p.T28I, p.L37P,p.E129Q, p.Y130C
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|May respond to targeted treatment with (MEK) inhibitors. [5]
|Systemic juvenile xanthogranuloma. [4]<br />
|-
|''CSF1R'' mutations
|Kinase driver mutations
Deletions in exon 12
 
Multiple missense mutations in exons 9 and 10


<span class="blue-text">EXAMPLE:</span>
Large deletions involving exons 21 and 22


EGFR; Exon 20 mutations
Alternative CSF1R mutations in exons 9 and 10


<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
Missense mutations in exon 10 [12]
|<span class="blue-text">EXAMPLE:</span> TSG
|Unknown
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|Unknown
|Unknown
|Unknown
|Unknown
|CSF-1R-specific small-molecule inhibitors Pexidartinib and BLZ945 is being studied. [11]
| Exon 10 mutations affect the extracellular region of CSF-1R and might enhance receptor dimerization. [12]
Large deletion of CSF1R exons 21 and 22 affects the intracellular c-CBL binding domain leading to defective receptor ubiquitination, and degradation. [12]


<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
Children less than 2 years of age with soft tissue involvement. [4] [12]
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
|-
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
|''PIK3CA'' mutations
|
|Unknown
|
|Unknown
|
|Unknown
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
|Unknown
<br />
|Unknown
|Unknown
|Unknown
|[4]
|-
|''NF1''
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Neurofibromatosis is associated with JXG.
|-
|''KRAS''
|p.G12D
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|[4]
|-
|''NRAS''
|p.Q61R
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|[4]
|-
|''ARAF''
|p.N217K or p.F351L
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|Unknown
|[4]
|-
|''BRAF'' V600E mutation
|Proto-oncogene
|Unknown
|Unknown
|Unknown
|Yes, may indicate pediatric Erdheim–Chester disease.
|Yes
Aggressive course
|Unknown.
Targeted therapy with BRAF-inhibitor dabrafenib needs to be studied further .
|Cases of systemic pediatric JXG with CNS involvement and ''BRAF'' V600E mutations show male preponderance and are associated with aggressive disease at presentation. Erdheim–Chester disease is an important differential diagnosis. [6]
|}
|}
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
Note: A more extensive list of mutations can be found in Bioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


==Epigenomic Alterations==
==Epigenomic Alterations==


Put your text here
Not listed


==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
|''NRAS'', ''KRAS'', ''ARAF'', ''MAP2K1'', and ''CSF1R, NTRK1 and BRAF gene fusions''
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|''MAPK/ERK'' pathway alterations
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Increased cell growth, proliferation, differentiation, apoptosis and stress responses
|-
|-
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
|''PIK3CD'' mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|''PI3K'' pathway
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|Unregulated cell survival, growth, and proliferation
|-
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==


Put your text here
Sequencing is not relevant to establishing the diagnosis, given there are no recognized molecular diagnostic features, but whole exome sequencing, whole transcriptome sequencing, and targeted DNA and/or RNA sequencing may identify ''BRAF, ALK, RET'', and ''NTRK1'' gene rearrangements or other variants that disrupt the ''RAS/RAF/MAPK/ERK'' and ''PI3K/AKT'' pathways.


==Familial Forms==
==Familial Forms==


Put your text here <span style="color:#0070C0">(''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') </span>
JXG may occur in patients with neurofibromatosis type 1 or Wiskott–Aldrich syndrome.  


==Additional Information==
==Additional Information==


Put your text here
Not listed


==Links==
==Links==


Put your text placeholder here (or anywhere appropriate on the page) and use the "Link" icon at the top of the page <span style="color:#0070C0">(''Instructions: Highlight text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
==References ==
<references />


==References==
<br />
(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted.''</span> <span style="color:#0070C0">''If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span> <references />
 
'''EXAMPLE Book'''


#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
#John  Chan et al., Juvenile xanthogranuloma, in: WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>.
#Paxton, C. N., O'malley, D.,P., Bellizzi, A. M., Alkapalan, D., Fedoriw, Y., Hornick, J. L.,  Andersen, E. F. (2017). Genetic evaluation of juvenile xanthogranuloma: Genomic abnormalities are uncommon in solitary lesions, advanced cases may show more complexity. ''Modern Pathology, 30''(9), 1234-1240. doi:<nowiki>https://doi.org/10.1038/modpathol.2017.50</nowiki>
#Umphress B, Kuhar M, Kowal R, et al. NTRK expression is common in xanthogranuloma and is associated with the solitary variant. ''J Cutan Pathol''. 2023; 50(11): 991-1000. doi:10.1111/cup.14510
#Seidel MG, Brcic L, Hoefler G, et al. Concurrence of a kinase‐dead BRAF and an oncogenic KRAS gain‐of‐function mutation in juvenile xanthogranuloma. ''Pediatric blood & cancer''. 2023;70(4):e30060-n/a. doi:10.1002/pbc.30060
#Kai-ni Shen, He Lin, Long Chang, Xin-xin Cao, Disseminated juvenile xanthogranuloma harbouring a ''GAB2::BRAF'' fusion successfully treated with trametinib: a case report, ''British Journal of Dermatology'', Volume 192, Issue 1, January 2025, Pages 169–171, <nowiki>https://doi.org/10.1093/bjd/ljae328</nowiki>
#Picarsic J, Pysher T, Zhou H, Fluchel M, Pettit T, Whitehead M, Surrey LF, Harding B, Goldstein G, Fellig Y, Weintraub M, Mobley BC, Sharples PM, Sulis ML, Diamond EL, Jaffe R, Shekdar K, Santi M. 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. Acta Neuropathol Commun. 2019 Nov 4;7(1):168. doi: 10.1186/s40478-019-0811-6. PMID: 31685033; PMCID: PMC6827236.
#Sugiyama M, Hirabayashi S, Ishi Y, et al. Notable therapeutic response in a patient with systemic juvenile xanthogranuloma with KIF5B‐ALK fusion. ''Pediatric blood & cancer''. 2021;68(11):e29227-n/a. doi:10.1002/pbc.29227
#McClain KL, Bigenwald C, Collin M, et al. Histiocytic disorders. ''Nature reviews Disease primers''. 2021;7(1):73-73. doi:10.1038/s41572-021-00307-9
#Eissa SS, Clay MR, Santiago T, Wu G, Wang L, Shulkin BL, Picarsic J, Nichols KE, Campbell PK. Dasatinib induces a dramatic response in a child with refractory juvenile xanthogranuloma with a novel MRC1-PDGFRB fusion. Blood Adv. 2020 Jul 14;4(13):2991-2995. doi: 10.1182/bloodadvances.2020001890. PMID: 32609843; PMCID: PMC7362356.
#Zanwar S, Abeykoon JP, Acosta-Medina AA, et al. BRAF Fusions in Histiocytic Disorders: Frequency and Clinical Characteristics. ''Blood''. 2021;138(Supplement 1):2582-2582. doi:10.1182/blood-2021-149802
#Durham BH, Lopez Rodrigo E, Picarsic J, et al. Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms. ''Nature medicine''. 2019;25(12):1839-1842. doi:10.1038/s41591-019-0653-6
#Paul G. Kemps, Hans J. Baelde, Ruben H. P. Vorderman, Ellen Stelloo, Joost F. Swennenhuis, Karoly Szuhai, Meindert H. Lamers, Boyd Kenkhuis, Maysa Al-Hussaini, Inge H. Briaire-de Bruijn, Suk Wai Lam, Judith V. M. G. Bovée, Arjen H. G. Cleven, Robert M. Verdijk, Carel J. M. van Noesel, Marijke R. van Dijk, Marijn A. Scheijde-Vermeulen, Annette H. Bruggink, Jan A. M. van Laar, Andrica C. H. de Vries, Wim J. E. Tissing, Cor van den Bos, Andreas von Deimling, Tom van Wezel, Astrid G. S. van Halteren, Pancras C. W. Hogendoorn, Recurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissue, Blood, Volume 144, Issue 23, 2024, Pages 2439-2455, ISSN 0006-4971, <nowiki>https://doi.org/10.1182/blood.2024025127</nowiki>.


==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>''Citation of this Page'': “Juvenile xanthogranuloma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Juvenile_xanthogranuloma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Juvenile xanthogranuloma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Juvenile_xanthogranuloma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases J]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases J]]
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