Polycythemia Vera

Incidence and onset information

Alternative names

Polycythemia Vera Is also known as polycythemia rubra vera, acquired primary erythrocytosis, prv, vaquez disease, osler-vaquez disease, pv.

Researches and researchers

Doctors, researchs, and experts related to Polycythemia Vera extracted from public data.

Polycythemia Vera Experts map

Current Researchs and researchers

• PARIS — Pr Albert NAJMAN

  Coordinator of research network
  
  

  • Institution/s:
    — CHU Paris Est - Hôpital Saint-Antoine
  • Research area/topic::
    

    French research group on familial lymphoproliferative syndromes



• PARIS — Pr Jean-Jacques KILADJIAN

  Coordinator of expert centre - Clinical expert - Coordinator of research network
  
  

  • Institution/s:
    — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
    — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
  • Research area/topic::
    

    FIM: French Intergroup of Myeloproliferative syndromes



• AACHEN — Pr Steffen KOSCHMIEDER

  Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project
  
  

  • Institution/s:
    — Universitätsklinikum Aachen
    — Universitätsklinikum Aachen
  • Research area/topic::
    

    MPN Registry: Clinical MPN Registry



• FREIBURG — Pr Heike PAHL

  Investigator of research project - Director of department
  
  

  • Institution/s:
    — Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
  • Research area/topic::
    

    The role of transcription factor NF-E2 in the pathophysiology of polycythemia vera



• ULM — Pr Konstanze DÖHNER

  Clinical expert - Principal investigator of clinical trial - Investigator of research project
  
  

  • Institution/s:
    — Universitätsklinikum Ulm am Oberen Eselsberg
  • Research area/topic::
    

    Prognostic impact of the JAK2 V617F mutation



• ULM — Dr Frank STEGELMANN

  Investigator of research project
  
  

  • Institution/s:
    — Universitätsklinikum Ulm am Oberen Eselsberg
  • Research area/topic::
    

    Prognostic impact of the JAK2 V617F mutation

Polycythemia Vera Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MyeloidDx by NGS. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA , (...) View the complete list with 32 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Close Specificity 6 % Genes 50 %
TET2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TET2 Specificity 100 % Genes 17 %
Myelodysplastic Syndrome (sequence analysis of TET2 gene). By CGC Genetics (Portugal). TET2 Specificity 100 % Genes 17 %
Myelodysplastic syndrome (mutations on TET2 gene). By CGC Genetics (Portugal). TET2 Specificity 100 % Genes 17 %
Myelodysplastic syndrome susceptibility. By Centogene AG - the Rare Disease Company (Germany). TET2 Specificity 100 % Genes 17 %
Myeloid Tumor Panel. By Centogene AG - the Rare Disease Company (Germany). RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1 , (...) View the complete list with 33 more genes Panel complete gene list RUNX1, SF3B1, SRSF2, BRAF, SMC1A, STAG2, TP53, U2AF1, KDM6A, WT1, IKZF1, CALR, CBL, CBLB, SETBP1, CBLC, FBXW7, CDKN2A, PHF6, ASXL1, CEBPA, BCOR, ZRSR2, CSF3R, SMC3, CUX1, BCORL1, TET2, DNMT3A, ETV6, EZH2, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KRAS, MPL, MYD88, ABL1, NOTCH1, NPM1, NRAS, PDGFRA, ATRX, PTEN, PTPN11, RAD21 Close Specificity 6 % Genes 50 %
Myelodysplastic syndrome, somatic. By Centogene AG - the Rare Disease Company (Germany). TET2 Specificity 100 % Genes 17 %
Platelets, Coagulation disorders Panel. By CeGaT GmbH (Germany). VHL, VWF, ADAMTS13, TET2, DSG1, ENTPD1, ETV6, F10, F11, F12, F13A1, F2, F5, F8, SERPINC1, SERPINE1, PDGFRB Specificity 6 % Genes 17 %

Sources and references

You can check the following sources for additional information.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEGALOBLASTIC ANEMIA 1 DIAMOND-BLACKFAN ANEMIA 12; DBA12 JOUBERT SYNDROME 32; JBTS32 BARAITSER-WINTER SYNDROME 1; BRWS1