HAEM5:Juvenile xanthogranuloma: Difference between revisions

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 |Unknown
 |May respond to targeted treatment with (MEK) inhibitors. [5]
-|Systemic juvenile xanthogranuloma [4]
+|Systemic juvenile xanthogranuloma. [4]<br />
-<br />
 |-
 |''CSF1R'' mutations
 |Kinase driver mutations
--Deletion in exon 12
+Deletions in exon 12
--multiple missense mutations in exons 9 and 10
+Multiple missense mutations in exons 9 and 10
--large deletion of exons 21 and 22
+Large deletions involving exons 21 and 22
--Alternative CSF1R mutations in exons 9 and 10
+Alternative CSF1R mutations in exons 9 and 10
--Missense mutations in exon 10
+Missense mutations in exon 10 [12]
-[12]
 |Unknown
 |Unknown
@@ Line 290: / Line 287: @@
 |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]
+| 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]
+Large deletion of CSF1R exons 21 and 22 affects the intracellular c-CBL binding domain leading to defective receptor ubiquitination, and degradation. [12]
-Children less than 2years of age with soft tissue involvement
+Children less than 2 years of age with soft tissue involvement. [4] [12]
-[4] [12]
 |-
 |''PIK3CA'' mutations
@@ Line 315: / Line 310: @@
 |Unknown
 |Unknown
-|
+|Neurofibromatosis is associated with JXG.
 |-
 |''KRAS''
@@ Line 357: / Line 352: @@
 |Unknown.
 Targeted therapy with BRAF-inhibitor dabrafenib needs to be studied further .
-|Pediatric cases with systemic JXG with CNS involvement and ''BRAF'' V600E mutations show male preponderance and are associated with aggressive disease at presentation. These cases needs to be  followed up, they probably represent Erdheim–Chester disease.[6]
+|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 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.
@@ Line 380: / Line 375: @@
 ==Genetic Diagnostic Testing Methods==
-Other diagnostic tests like next-generation sequencing (NGS), whole exome sequencing, whole transcriptome sequencing and targeted DNA and/or RNA sequencing that can be helpful for identification of mutations in the ''RAS/RAF/MAPK/ERK'' and ''PI3K/AKT'' pathway genes or ''BRAF, ALK, RET'', and ''NTRK1'' gene rearrangements. These tests are currently not utilized for diagnosis given there are no recognized molecular diagnostic features.
+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==