HAEM5:Acute myeloid leukaemia with CEBPA mutation: Difference between revisions
| [checked revision] | [checked revision] |
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| Line 73: | Line 73: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
AML with mutated ''CEBPA'' tends to have higher haemoglobin levels, lower platelet counts, lower lactate dehydrogenase levels and higher PB blast cell counts compared to ''CEBPA'' non-mutated AML<ref name=":0" />. There is also a lower frequency of lymphadenopathy and myeloid sarcoma in ''CEBPA'' mutated AML than in non-mutated AML<ref name=":0" />. | AML with mutated ''CEBPA'' tends to have higher haemoglobin levels, lower platelet counts, lower lactate dehydrogenase levels and higher PB blast cell counts compared to ''CEBPA'' non-mutated AML<ref name=":0" />. There is also a lower frequency of lymphadenopathy and myeloid sarcoma in ''CEBPA'' mutated AML than in non-mutated AML<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 127: | Line 130: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None | None | ||
| Line 140: | Line 143: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
| Line 147: | Line 153: | ||
* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
* Gene Mutations (SNV/INDEL)}} | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
Patients with biallelic ''CEBPA'' mutations and a normal karyotype have a more favorable prognosis than those with monoallelic or no ''CEBPA'' mutations, with higher complete remission rates and longer disease-free survival, relapse-free survival, event-free survival, and overall survival<ref name=":0" />. | Patients with biallelic ''CEBPA'' mutations and a normal karyotype have a more favorable prognosis than those with monoallelic or no ''CEBPA'' mutations, with higher complete remission rates and longer disease-free survival, relapse-free survival, event-free survival, and overall survival<ref name=":0" />. | ||
Patients with abnormal karyotypes (but not complex karyotypes) and biallelic ''CEBPA'' mutations also have longer disease-free survival, event-free survival, and overall survival when compared to patients with monoallelic or no ''CEBPA'' mutations<ref name=":0" />. | Patients with abnormal karyotypes (but not complex karyotypes) and biallelic ''CEBPA'' mutations also have longer disease-free survival, event-free survival, and overall survival when compared to patients with monoallelic or no ''CEBPA'' mutations<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 200: | Line 209: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None | None | ||
| Line 213: | Line 222: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 237: | Line 249: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
None | None | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
| Line 276: | Line 291: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
Pathogenic mutations in ''CEBPA'' are predominantly insertion/deletion frameshift mutations in the N-terminal TAD region and in-frame C-terminal bZIP mutations. No particular mutational hotspots exist but the following table records the most reported mutations in the COSMIC database (frequency based on a count out of 1523 mutations): | Pathogenic mutations in ''CEBPA'' are predominantly insertion/deletion frameshift mutations in the N-terminal TAD region and in-frame C-terminal bZIP mutations. No particular mutational hotspots exist but the following table records the most reported mutations in the COSMIC database (frequency based on a count out of 1523 mutations): | ||
| Line 309: | Line 324: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
| Line 334: | Line 352: | ||
|} | |} | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
''CEBPA'', located on chromosome 19 band q13.1, encodes a transcription factor of the basic region leucine zipper (bZIP) family. It is involved in the coordination of myeloid differentiation and cellular growth arrest. Alternative translation initiation sites result in protein isoforms of different lengths. | ''CEBPA'', located on chromosome 19 band q13.1, encodes a transcription factor of the basic region leucine zipper (bZIP) family. It is involved in the coordination of myeloid differentiation and cellular growth arrest. Alternative translation initiation sites result in protein isoforms of different lengths. | ||
| Line 343: | Line 361: | ||
The precise mechanism by which ''CEBPA'' mutants inhibit granulocytic differentiation in the context of AML is still unclear. | The precise mechanism by which ''CEBPA'' mutants inhibit granulocytic differentiation in the context of AML is still unclear. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||