HAEM5:Polycythaemia vera: Difference between revisions
| [checked revision] | [checked revision] |
Bailey.Glen (talk | contribs) No edit summary |
Bailey.Glen (talk | contribs) No edit summary |
||
| Line 82: | Line 82: | ||
<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> | ||
*Insidious onset of disease and PV is often discovered incidentally due to increased hemoglobin and hematocrit levels in a routine CBC | *Insidious onset of disease and PV is often discovered incidentally due to increased hemoglobin and hematocrit levels in a routine CBC | ||
| Line 91: | Line 91: | ||
*May evolve into myelofibrosis, MDS or post PV blast phase (formerly known as acute leukemia)<ref name=":0" /><ref>Tefferi A. Clinical manifestations and diagnosis of polycythemia vera https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-polycythemia-vera (last accessed 8/1/2020)</ref> | *May evolve into myelofibrosis, MDS or post PV blast phase (formerly known as acute leukemia)<ref name=":0" /><ref>Tefferi A. Clinical manifestations and diagnosis of polycythemia vera https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-polycythemia-vera (last accessed 8/1/2020)</ref> | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
| Line 131: | Line 134: | ||
<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
No specific immunophenotypic characteristics | No specific immunophenotypic characteristics | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
| Line 159: | Line 165: | ||
<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 | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
| Line 169: | Line 178: | ||
* 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> | ||
''<u>Diagnosis</u>''<ref name=":0" /> | ''<u>Diagnosis</u>''<ref name=":0" /> | ||
| Line 206: | Line 215: | ||
**For inadequate or loss of response with cytoreductive threapy: ruxolitinib or clinical trials | **For inadequate or loss of response with cytoreductive threapy: ruxolitinib or clinical trials | ||
<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 254: | Line 266: | ||
|} | |} | ||
<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> | ||
Frequent cytogenetic abnormalities are listed below<ref name=":0" />. | Frequent cytogenetic abnormalities are listed below<ref name=":0" />. | ||
| Line 275: | Line 287: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
| Line 299: | Line 314: | ||
|} | |} | ||
<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> | ||
Cytogenetic abnormalities is present about 20% of the cases (see genomic gain/loss/LOH section). Associated with progression and adverse prognosis<ref name=":1">{{Cite journal|last=A|first=Tefferi|last2=T|first2=Barbui|date=2019|title=Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management|url=https://pubmed.ncbi.nlm.nih.gov/30281843/|language=en|pmid=30281843}}</ref><ref>{{Cite journal|last=G|first=Tang|last2=Je|first2=Hidalgo Lopez|last3=Sa|first3=Wang|last4=S|first4=Hu|last5=J|first5=Ma|last6=S|first6=Pierce|last7=W|first7=Zuo|last8=Aa|first8=Carballo-Zarate|last9=Cc|first9=Yin|date=2017|title=Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera|url=https://pubmed.ncbi.nlm.nih.gov/28473622/|language=en|doi=10.3324/haematol.2017.165795|pmc=PMC5685217|pmid=28473622}}</ref>. | Cytogenetic abnormalities is present about 20% of the cases (see genomic gain/loss/LOH section). Associated with progression and adverse prognosis<ref name=":1">{{Cite journal|last=A|first=Tefferi|last2=T|first2=Barbui|date=2019|title=Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management|url=https://pubmed.ncbi.nlm.nih.gov/30281843/|language=en|pmid=30281843}}</ref><ref>{{Cite journal|last=G|first=Tang|last2=Je|first2=Hidalgo Lopez|last3=Sa|first3=Wang|last4=S|first4=Hu|last5=J|first5=Ma|last6=S|first6=Pierce|last7=W|first7=Zuo|last8=Aa|first8=Carballo-Zarate|last9=Cc|first9=Yin|date=2017|title=Characteristics and clinical significance of cytogenetic abnormalities in polycythemia vera|url=https://pubmed.ncbi.nlm.nih.gov/28473622/|language=en|doi=10.3324/haematol.2017.165795|pmc=PMC5685217|pmid=28473622}}</ref>. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
| Line 338: | Line 356: | ||
<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> | ||
*''JAK2'' V617F mutations | *''JAK2'' V617F mutations | ||
| Line 371: | Line 389: | ||
|} | |} | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
| Line 396: | Line 417: | ||
|} | |} | ||
<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> | ||
*''JAK2'' is physically bound to homodimeric receptors: EPOR, MPL and G-CSFR and act as the catalytic part of these receptors upon the binding of the cytokine to the receptor. | *''JAK2'' is physically bound to homodimeric receptors: EPOR, MPL and G-CSFR and act as the catalytic part of these receptors upon the binding of the cytokine to the receptor. | ||
*J''AK2'' V617F mutation results in non-cytokine dependent constitutive phosphorylation and activation of the down-stream STAT molecules and Pl3K and MAPK pathways<ref name=":2" />. | *J''AK2'' V617F mutation results in non-cytokine dependent constitutive phosphorylation and activation of the down-stream STAT molecules and Pl3K and MAPK pathways<ref name=":2" />. | ||
<blockquote class="blockedit"> | |||
<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
---- | |||
</blockquote> | </blockquote> | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||