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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<span style="color:#0070C0">Scott Turner, PhD </span> | <span style="color:#0070C0">Scott Turner, PhD </span> | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
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|Unknown | |Unknown | ||
|Unknown | |Unknown | ||
| | |Disseminated JXG with ''GAB2::BRAF'' fusion showed favorable response to treatment with Trametinib (MEK1/2 inhibitor). [5]. | ||
Disseminated JXG with ''GAB2::BRAF'' fusion showed favorable response to treatment with Trametinib (MEK1/2 inhibitor). [5]. | |BRAF gene fusions are more often seen in adult and Juvenile JXG as compared with other histiocytic disorders. [10] | ||
|BRAF gene fusions are more often seen in adult and Juvenile JXG as compared with other histiocytic disorders. [10] | |||
|- | |- | ||
|RET fusions | |RET fusions | ||
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|- | |- | ||
|''MRC1-PDGFRB'' fusion | |''MRC1-PDGFRB'' fusion | ||
|t(5;10)(q32; p12.33) translocation | |t(5;10)(q32; p12.33) translocation | ||
|in-frame ''MRC1-PDGFRB'' gene fusion | |in-frame ''MRC1-PDGFRB'' gene fusion | ||
Can be seen with large deletion of exons 21 and 22 [12] | Can be seen with large deletion of exons 21 and 22 [12] | ||
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|- | |- | ||
|5 | |5 | ||
|Gain, Heterozygosity | |Gain, Heterozygosity | ||
|Unknown | |Unknown | ||
|Unknown | |Unknown | ||
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{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene; Genetic Alteration!! | !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) | ||
!Prognostic Significance (Yes, No or Unknown) | !Prognostic Significance (Yes, No or Unknown) | ||
!Therapeutic Significance (Yes, No or Unknown) | !Therapeutic Significance (Yes, No or Unknown) | ||