Compendium of Cancer Genome Aberrations

HAEM5:Polycythaemia vera: Difference between revisions

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{{Under Construction}}
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-03. The original page can be found at [[HAEM4:Polycythemia Vera (PV)]].
<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-11-30. The original page can be found at [[HAEM4:Polycythemia Vera (PV)]].
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==Primary Author(s)*==
==Primary Author(s)*==
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__TOC__
__TOC__


==Cancer Category/Type==
==Cancer Category / Type==


Myeloproliferative neoplasms
Myeloproliferative neoplasms
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==Definition / Description of Disease==
==Definition / Description of Disease==


Put your text here <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories referring to the specific WHO book pages, diagnostic criteria if applicable, and differential diagnosis if applicable'') </span>
*Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm (MPN).
*Increased red blood cell (RBC) production independent of normal regulation of erythropoiesis.
*Proliferation of other myeloid cells such as granulocytes and megakaryocytes are also frequently observed (panmyelosis).
*Very high majority of PV patients have ''JAK2'' V617F or ''JAK2'' exon 12 mutations.
*Phases of PV
**Polycythemic phase: Early phase characterized by increased hemoglobulin and hematocrit levels and increased RBC mass.
**Post polycythemic myelofibrosis: Later phase associated bone marrow fibrosis, ineffective hematopoiesis (and cytopenias) and extramedullary hematopoiesis.<ref name=":0">Thiele J, Kvasnicka HM, Orazi A, Tefferi A, Birgegard G, Barbui T (2017). Polycythemia Vera, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4<sup>th</sup>edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Editors. IARC Press: Lyon, France, p39-43</ref>


==Synonyms / Terminology==
==Synonyms / Terminology==
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==Sites of Involvement==
==Sites of Involvement==


Put your text here <span style="color:#0070C0">(''Instruction: Indicate physical sites; Example: nodal, extranodal, bone marrow'') </span>
*Bone marrow is the major affected site.
*Splenic and hepatic extramedullary hematopoiesis can be observed in later stages.
*Any organ can be damaged due to vascular involvement.<ref name=":0" />


==Morphologic Features==
==Morphologic Features==


Put your text here
Polycythemic phase
 
*Hypercellularity (notable in subcortical marrow space)
*Panmyelosis (with marked erythroid and megakaryocytic predominance)
*Pleomorphic megakaryocytes
*Decreased often absent iron deposits
 
Post polycythemic myelofibrosis phase
 
*Grade 2-3 BM fibrosis
*Decreased erythropoiesis (anemia) and granulopoiesis
*Manifestation of myeloid metaplasia and extramedullary hematopoiesis: Leukoeryhroblastosis, teardrop RBC, splenomegaly<ref name=":0" />


==Immunophenotype==
==Immunophenotype==
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</blockquote>
</blockquote>
==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain / Loss / LOH==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>
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</blockquote>
</blockquote>
==Gene Mutations (SNV/INDEL)==
==Gene Mutations (SNV / INDEL)==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>
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==Notes==
==Notes==
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
<nowiki>*</nowiki>''Citation of this Page'': “Polycythaemia vera”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Polycythaemia_vera</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Polycythaemia vera”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Polycythaemia_vera</nowiki>.
==Other Sections==
Definition / Description of Disease
*Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm (MPN).
*Increased red blood cell (RBC) production independent of normal regulation of erythropoiesis.
*Proliferation of other myeloid cells such as granulocytes and megakaryocytes are also frequently observed (panmyelosis).
*Very high majority of PV patients have ''JAK2'' V617F or ''JAK2'' exon 12 mutations.
*Phases of PV
**Polycythemic phase: Early phase characterized by increased hemoglobulin and hematocrit levels and increased RBC mass.
**Post polycythemic myelofibrosis: Later phase associated bone marrow fibrosis, ineffective hematopoiesis (and cytopenias) and extramedullary hematopoiesis.<ref name=":0">Thiele J, Kvasnicka HM, Orazi A, Tefferi A, Birgegard G, Barbui T (2017). Polycythemia Vera, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4<sup>th</sup>edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Editors. IARC Press: Lyon, France, p39-43</ref>
Sites of Involvement
*Bone marrow is the major affected site.
*Splenic and hepatic extramedullary hematopoiesis can be observed in later stages.
*Any organ can be damaged due to vascular involvement.<ref name=":0" />
Morphologic Features
Polycythemic phase
*Hypercellularity (notable in subcortical marrow space)
*Panmyelosis (with marked erythroid and megakaryocytic predominance)
*Pleomorphic megakaryocytes
*Decreased often absent iron deposits
Post polycythemic myelofibrosis phase
*Grade 2-3 BM fibrosis
*Decreased erythropoiesis (anemia) and granulopoiesis
*Manifestation of myeloid metaplasia and extramedullary hematopoiesis: Leukoeryhroblastosis, teardrop RBC, splenomegaly<ref name=":0" />
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases P]]
Retrieved from "https://test.ccga.io/index.php/HAEM5:Polycythaemia_vera"