HAEM5:Langerhans cell histiocytosis: Difference between revisions
| [checked revision] | [checked revision] |
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| Line 91: | Line 91: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
Patients with unifocal disease often present with lytic bone lesions and are usually older children or adults. | Patients with unifocal disease often present with lytic bone lesions and are usually older children or adults. | ||
| Line 101: | Line 101: | ||
A trans-differentiation phenomenon is recognized with an association between tumours derived from Langerhans cells and T-lymphoblastic leukaemia. The leukemia-associated TR gene rearrangement is present in the Langerhans Cell Histiocytosis cells <ref name=":0" />. | A trans-differentiation phenomenon is recognized with an association between tumours derived from Langerhans cells and T-lymphoblastic leukaemia. The leukemia-associated TR gene rearrangement is present in the Langerhans Cell Histiocytosis cells <ref name=":0" />. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| Line 195: | Line 198: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
LCH has been shown to be clonal, using an X-linked androgen receptor gene assay in many cases (not seen in some adult pulmonary lesions). | LCH has been shown to be clonal, using an X-linked androgen receptor gene assay in many cases (not seen in some adult pulmonary lesions). | ||
| Line 201: | Line 204: | ||
About 30% of cases have a detectable clonal IGH, IGK or TR rearrangement <ref name=":0" />. | About 30% of cases have a detectable clonal IGH, IGK or TR rearrangement <ref name=":0" />. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
| Line 275: | Line 281: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV / INDEL)|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV / INDEL)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
More than half of LCH cases display a ''BRAF V600E'' variant. Approximately 25% of LCH cases have an associated somatic MAP2K1 mutation in parallel with a germline BRAF variant <ref name=":0" />. | More than half of LCH cases display a ''BRAF V600E'' variant. Approximately 25% of LCH cases have an associated somatic MAP2K1 mutation in parallel with a germline BRAF variant <ref name=":0" />. | ||
| Line 295: | Line 301: | ||
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 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. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||