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==Overview== | ==Overview== | ||
[[Polycythemia]] first came into notice by a French physician in the late 1800's. It was not until 2005 that the main [[genetic mutation]] [[JAK2]]V617F was implicated in its [[pathogenesis]]. William Dameshek was responsible for its inclusion in the group "[[Myeloproliferative disease|myeloproliferative]] disorders". | |||
==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
* | *[[Polycythemia vera]] was first mentioned in 1892 in the medical literature by a French physician Louis Henri Vaquez.<ref name="LevineWadleigh2005">{{cite journal|last1=Levine|first1=Ross L.|last2=Wadleigh|first2=Martha|last3=Cools|first3=Jan|last4=Ebert|first4=Benjamin L.|last5=Wernig|first5=Gerlinde|last6=Huntly|first6=Brian J.P.|last7=Boggon|first7=Titus J.|last8=Wlodarska|first8=Iwona|last9=Clark|first9=Jennifer J.|last10=Moore|first10=Sandra|last11=Adelsperger|first11=Jennifer|last12=Koo|first12=Sumin|last13=Lee|first13=Jeffrey C.|last14=Gabriel|first14=Stacey|last15=Mercher|first15=Thomas|last16=D’Andrea|first16=Alan|last17=Fröhling|first17=Stefan|last18=Döhner|first18=Konstanze|last19=Marynen|first19=Peter|last20=Vandenberghe|first20=Peter|last21=Mesa|first21=Ruben A.|last22=Tefferi|first22=Ayalew|last23=Griffin|first23=James D.|last24=Eck|first24=Michael J.|last25=Sellers|first25=William R.|last26=Meyerson|first26=Matthew|last27=Golub|first27=Todd R.|last28=Lee|first28=Stephanie J.|last29=Gilliland|first29=D. Gary|title=Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis|journal=Cancer Cell|volume=7|issue=4|year=2005|pages=387–397|issn=15356108|doi=10.1016/j.ccr.2005.03.023}}</ref><ref name="pmid27884974">{{cite journal| author=Vannucchi AM| title=From leeches to personalized medicine: evolving concepts in the management of polycythemia vera. | journal=Haematologica | year= 2017 | volume= 102 | issue= 1 | pages= 18-29 | pmid=27884974 | doi=10.3324/haematol.2015.129155 | pmc=5210229 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27884974 }}</ref><ref name="McMullinWilkins2016">{{cite journal|last1=McMullin|first1=Mary F.|last2=Wilkins|first2=Bridget S.|last3=Harrison|first3=Claire N.|title=Management of polycythaemia vera: a critical review of current data|journal=British Journal of Haematology|volume=172|issue=3|year=2016|pages=337–349|issn=00071048|doi=10.1111/bjh.13812}}</ref> | ||
*In [ | |||
*In [ | *In 1899 and 1900 two additional cases of polycythemia vera were described by Richard Clark Cabot both with increased [[erythrocytes]] and [[leukocytes]] and one with marked [[splenomegaly]]. <ref name="pmid178822832">{{cite journal| author=Tefferi A| title=The history of myeloproliferative disorders: before and after Dameshek. | journal=Leukemia | year= 2008 | volume= 22 | issue= 1 | pages= 3-13 | pmid=17882283 | doi=10.1038/sj.leu.2404946 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17882283 }}</ref> | ||
*In 1951, William Dameshek grouped together [[chronic myelogenous leukemia]] ([[Chronic myelogenous leukemia|CML]]), [[polycythemia vera]], [[Essential thrombocytosis|essential thrombocythemi]]<nowiki/>a, primary [[myelofibrosis]], and [[erythroleukemia]] and coined the term "[[Myeloproliferative disease|myeloproliferative]] disorders". <ref name="pmid17882283">{{cite journal |vauthors=Tefferi A |title=The history of myeloproliferative disorders: before and after Dameshek |journal=Leukemia |volume=22 |issue=1 |pages=3–13 |date=January 2008 |pmid=17882283 |doi=10.1038/sj.leu.2404946 |url=}}</ref> | |||
*In 2005, a gain of function mutation in [[JAK2]] (JAK2V617F) was first implicated in the [[pathogenesis]] of [[BCR]]-[[ABL]] negative myeloproliferative disorders. A liquid culture system was used to culture PV [[erythroid]] cells without [[exogenous]] [[Cytokine|cytokines]]. it was noted that PV erythroid proliferation was inhibited with inhibition of [[JAK2]]. | |||
===Landmark Events in the Development of Treatment Strategies=== | ===Landmark Events in the Development of Treatment Strategies=== | ||
*In 1960, Peter Nowell and David Hungerford published data on an abnormally small [[chromosome]] that looked like a [[Y chromosome]], the data came from two male patients with [[Chronic myelogenous leukemia|CML]]. Eventually, seven more cases were discovered, with the presence of a specific [[Chromosome|chromosomal]] abnormality. | |||
*Nowell and Hungerford further noticed that these abnormal cells coexisted with normal [[karyotype]], and, thus concluded that the abnormally small chromosome might be a cause of [[Chronic myelogenous leukemia|CML]] rather than coincidental. | |||
*This abnormally small chromosome was named the [[Philadelphia chromosome]], after the city it was discovered in. | |||
*[[Polycythemia vera|Polycythemia Vera]] Study Group: Louis Wasserman in 1967 created a group with clinicians from all over the country to study PV in detail. A major significance of this was to study the leukemogenicity of [[radioactive]] [[phosphorus]] which was one of the major agents used at that time for the treatment of PV. | |||
*Prior to this, the mainstay of treatment was [[phlebotomy]] and IV P-32. Other modalities included the following : skeletal [[radiation therapy]], acetyl [[phenylhydrazine]], potassium [[arsenite]], [[Lead(II) acetate|lead]] acetate, [[nitrogen mustard]], [[hydroxyurea]], [[melphalan]], etc. | |||
===Famous Cases=== | ===Famous Cases=== | ||
The following are a few famous cases of [ | The following are a few famous cases of [[polycythemia vera]]: | ||
*Phyllis George - A former Miss America and sportscaster, passed away at age 70, due to complications from [[polycythemia vera]] on May 14, 2020. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Emergency medicine]] | [[Category:Emergency medicine]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category: | [[Category:Blood disorders]] | ||
Latest revision as of 18:39, 25 February 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
Polycythemia first came into notice by a French physician in the late 1800's. It was not until 2005 that the main genetic mutation JAK2V617F was implicated in its pathogenesis. William Dameshek was responsible for its inclusion in the group "myeloproliferative disorders".
Historical Perspective
Discovery
- Polycythemia vera was first mentioned in 1892 in the medical literature by a French physician Louis Henri Vaquez.[1][2][3]
- In 1899 and 1900 two additional cases of polycythemia vera were described by Richard Clark Cabot both with increased erythrocytes and leukocytes and one with marked splenomegaly. [4]
- In 1951, William Dameshek grouped together chronic myelogenous leukemia (CML), polycythemia vera, essential thrombocythemia, primary myelofibrosis, and erythroleukemia and coined the term "myeloproliferative disorders". [5]
- In 2005, a gain of function mutation in JAK2 (JAK2V617F) was first implicated in the pathogenesis of BCR-ABL negative myeloproliferative disorders. A liquid culture system was used to culture PV erythroid cells without exogenous cytokines. it was noted that PV erythroid proliferation was inhibited with inhibition of JAK2.
Landmark Events in the Development of Treatment Strategies
- In 1960, Peter Nowell and David Hungerford published data on an abnormally small chromosome that looked like a Y chromosome, the data came from two male patients with CML. Eventually, seven more cases were discovered, with the presence of a specific chromosomal abnormality.
- Nowell and Hungerford further noticed that these abnormal cells coexisted with normal karyotype, and, thus concluded that the abnormally small chromosome might be a cause of CML rather than coincidental.
- This abnormally small chromosome was named the Philadelphia chromosome, after the city it was discovered in.
- Polycythemia Vera Study Group: Louis Wasserman in 1967 created a group with clinicians from all over the country to study PV in detail. A major significance of this was to study the leukemogenicity of radioactive phosphorus which was one of the major agents used at that time for the treatment of PV.
- Prior to this, the mainstay of treatment was phlebotomy and IV P-32. Other modalities included the following : skeletal radiation therapy, acetyl phenylhydrazine, potassium arsenite, lead acetate, nitrogen mustard, hydroxyurea, melphalan, etc.
Famous Cases
The following are a few famous cases of polycythemia vera:
- Phyllis George - A former Miss America and sportscaster, passed away at age 70, due to complications from polycythemia vera on May 14, 2020.
References
- ↑ Levine, Ross L.; Wadleigh, Martha; Cools, Jan; Ebert, Benjamin L.; Wernig, Gerlinde; Huntly, Brian J.P.; Boggon, Titus J.; Wlodarska, Iwona; Clark, Jennifer J.; Moore, Sandra; Adelsperger, Jennifer; Koo, Sumin; Lee, Jeffrey C.; Gabriel, Stacey; Mercher, Thomas; D’Andrea, Alan; Fröhling, Stefan; Döhner, Konstanze; Marynen, Peter; Vandenberghe, Peter; Mesa, Ruben A.; Tefferi, Ayalew; Griffin, James D.; Eck, Michael J.; Sellers, William R.; Meyerson, Matthew; Golub, Todd R.; Lee, Stephanie J.; Gilliland, D. Gary (2005). "Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis". Cancer Cell. 7 (4): 387–397. doi:10.1016/j.ccr.2005.03.023. ISSN 1535-6108.
- ↑ Vannucchi AM (2017). "From leeches to personalized medicine: evolving concepts in the management of polycythemia vera". Haematologica. 102 (1): 18–29. doi:10.3324/haematol.2015.129155. PMC 5210229. PMID 27884974.
- ↑ McMullin, Mary F.; Wilkins, Bridget S.; Harrison, Claire N. (2016). "Management of polycythaemia vera: a critical review of current data". British Journal of Haematology. 172 (3): 337–349. doi:10.1111/bjh.13812. ISSN 0007-1048.
- ↑ Tefferi A (2008). "The history of myeloproliferative disorders: before and after Dameshek". Leukemia. 22 (1): 3–13. doi:10.1038/sj.leu.2404946. PMID 17882283.
- ↑ Tefferi A (January 2008). "The history of myeloproliferative disorders: before and after Dameshek". Leukemia. 22 (1): 3–13. doi:10.1038/sj.leu.2404946. PMID 17882283.