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)*== | ||
Mayuri Shende, MBBS, DCP, FCPS, DNB, ASCP-SH CM | |||
<span style="color:#0070C0">Scott Turner, PhD </span> | |||
__TOC__ | __TOC__ | ||
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==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
Juvenile Xanthogranuloma (JXG) is a clonal expansion of non–Langerhans cell histiocytes with dermal macrophage phenotype.<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> | |||
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
Juvenile xanthogranuloma <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span> | |||
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
Juvenile Xanthogranuloma is a rare histiocytic neoplasm comprising about 0.5% of all pediatric tumors, seldom seen in in adults. 20-35% cases are congenital, shows male predilection and mostly (>70% cases) arise during the first year of life. | |||
==Clinical Features== | ==Clinical Features== | ||
JXG are generally asymptomatic. Infants may present with ≥1 cutaneous, pale yellow-tan, dome-shaped papulonodular lesions, approximately5% patients show multiple lesions. These lesions begin as raised, pink to dark brown lesions that might get flatten later and heal/ scar within few months or years. A clinical subtype of JXG- benign cephalic histiocytosis occurs in head and neck of young children, asymptomatic, self-healing papular lesions. The lesions are often large, solitary and persistent in adults which needs exclusion of Erdheim–Chester disease. JXG may occur in patients with neurofibromatosis type 1, also reported in Wiskott–Aldrich syndrome. <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span> | |||
{| class="wikitable" | {| class="wikitable" | ||
|'''Signs and Symptoms''' | |'''Signs and Symptoms''' | ||
| | |Asymptomatic in the beginning | ||
≥1 cutaneous papulonodular lesions | |||
Rarely systemic involvement with abnormal labs, ophthalmologic exam findings, seizures, hydrocephalus, diabetes Insipidus | |||
|- | |- | ||
|'''Laboratory Findings''' | |'''Laboratory Findings''' | ||
| | |Abnormal blood count, liver enzymes, metabolic tests | ||
Cytopenia if bone marrow involved | |||
|} | |} | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
JXG involves and is generally confined to skin, head and neck, upper trunk and proximal extremities. Rarely ocular involvement, solitary lesion noted. Other extracutaneous sites of involvement- visceral, spinal, or intracranial area also reported rarely. <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span> | |||
==Morphologic Features== | ==Morphologic Features== | ||
'''Gross appearance:''' | |||
Cutaneous JXGs: Early lesions are pink 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. | |||
==Immunophenotype== | ==Immunophenotype== | ||
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!Finding!!Marker | !Finding!!Marker | ||
|- | |- | ||
|Positive (universal)|| | |Positive (universal)||CD68, CD163, CD4, CD14, factor XIIIa, and fascin | ||
|- | |- | ||
|Positive (subset)|| | |Positive (subset)||S100 (light nuclear and cytoplasmic staining) | ||
|- | |- | ||
|Negative (universal)|| | |Negative (universal)||CD1a and CD207 (langerin), ALK | ||
|- | |- | ||
|Negative (subset)|| | |Negative (subset)||N/A | ||
|} | |} | ||
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<br /> | <br /> | ||
|} | |} | ||
Note: A more extensive list of mutations can be found in | 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== | ||
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
|- | |- | ||
| | |''NRAS'', ''KRAS'', ''ARAF'', ''MAP2K1'', and ''CSF1R, NTRK1 and BRAF gene fusions'' | ||
| | |MAPK/ERK pathway alterations | ||
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | |<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation | ||
|- | |- | ||
| | |''PIK3CD'' mutations | ||
| | |PI3K pathway | ||
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division | |<span class="blue-text">EXAMPLE:</span> Unregulated cell division | ||
|- | |- | ||
| | |NA | ||
| | |NA | ||
| | |NA | ||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
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'''EXAMPLE Book''' | '''EXAMPLE Book''' | ||
# | #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>. | ||
==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]] | |||