Difference between revisions of "Polycythemia Vera (PV)"

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==Cancer Category/Type==
 
==Cancer Category/Type==
  
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Myeloproliferative neoplasms
  
 
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
  
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Polycythemia Vera
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
  
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* Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm (MPN).
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* Increased red blood cell (RBC) production independent of normal regulation of erythropoiesis.
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* Proliferation of other myeloid cells such as granulocytes and megakaryocytes are also frequently observed (panmyelosis).
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* Very high majority of PV patients have ''JAK2'' V617F or ''JAK2'' exon 12 mutations.
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* Phases of PV
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** Polycythemic phase: Early phase characterized by increased hemoglobulin and hematocrit levels and increased RBC mass.
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** Post polycythemic myelofibrosis: Later phase associated bone marrow fibrosis, ineffective hematopoiesis (and cytopenias) and extramedullary hematopoiesis.
  
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==

Revision as of 16:13, 2 August 2020

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Primary Author(s)*

Gokce A. Toruner, MD,PhD

Cancer Category/Type

Myeloproliferative neoplasms

Cancer Sub-Classification / Subtype

Polycythemia Vera

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.

Synonyms / Terminology

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Epidemiology / Prevalence

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Clinical Features

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Sites of Involvement

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Morphologic Features

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Immunophenotype

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Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4

Chromosomal Rearrangements (Gene Fusions)

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Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 5%
EXAMPLE t(8;21)(q22;q22) EXAMPLE 5'RUNX1 / 3'RUNXT1 EXAMPLE der(8) EXAMPLE 5%

Characteristic Chromosomal Aberrations / Patterns

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Genomic Gain/Loss/LOH

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Chromosome Number Gain/Loss/Amp/LOH Region
EXAMPLE 8 EXAMPLE Gain EXAMPLE chr8:0-1000000
EXAMPLE 7 EXAMPLE Loss EXAMPLE chr7:0-1000000

Gene Mutations (SNV/INDEL)

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Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
EXAMPLE TP53 EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Other Mutations

Type Gene/Region/Other
Concomitant Mutations EXAMPLE IDH1 R123H
Secondary Mutations EXAMPLE Trisomy 7
Mutually Exclusive EXAMPLE EGFR Amplification

Epigenomics (Methylation)

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Genes and Main Pathways Involved

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Diagnostic Testing Methods

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Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

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Familial Forms

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Other Information

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Links

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References

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EXAMPLE Book

  1. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.

Notes

*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.