View source for Myeloproliferative neoplasm historical perspective

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{{Myeloproliferative disease}}
{{CMG}}{{AE}} {{MJK}}, {{shyam}}
==Overview==
The first description of myeloproliferative neoplasm dates back to the late 19th century, when Sir Louis Vasquez studied a patient with excess [[red blood cells]]. Myeloproliferative neoplasm was first brought to attention as an important clinical entity by Dr. William Dameshek, an American hematologist, in 1951. In 2005, the link between the ''[[Janus kinase|JAK2]]'' mutation and [[polycythemia vera]] was discovered. The World Health Organization created diagnostic criteria for myeloproliferative neoplasms in 2008, and this was revised in 2016.

==Historical Perspective==
*In '''1892''', Sir Louis Vasquez described the first form of myeloproliferative disease in a patient. He described a patient with excess [[red blood cell]] production (eventually found to be [[polycythemia vera]], [[liver]] enlargement ([[hepatomegaly]]), and [[spleen]] enlargement ([[splenomegaly]]). It was thought that excess [[hematopoietic cell]] production resulted in organ enlargement. This was later termed [[extramedullary hematopoiesis]].<ref name="pmid18779404">{{cite journal| author=Levine RL, Gilliland DG| title=Myeloproliferative disorders. | journal=Blood | year= 2008 | volume= 112 | issue= 6 | pages= 2190-8 | pmid=18779404 | doi=10.1182/blood-2008-03-077966 | pmc=2962533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18779404  }} </ref>

*In '''1903''', Sir William Osler later described a group of patients with elevated [[red blood cell]] counts.<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>

*In '''1934''', Alfred Goedel and Emil Epstein found that patients with [[thrombocytosis]] without [[Polycythemia|erythrocytosis]] was a separate disease entity (later coined as [[essential thrombocythemia]]).<ref name="pmid18779404">{{cite journal| author=Levine RL, Gilliland DG| title=Myeloproliferative disorders. | journal=Blood | year= 2008 | volume= 112 | issue= 6 | pages= 2190-8 | pmid=18779404 | doi=10.1182/blood-2008-03-077966 | pmc=2962533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18779404  }} </ref>

*In '''1940''', Sir William Dameshek and Henthell described the clinical features of the myeloproliferative neoplasm now known as [[polycythemia vera]]. Patients were noted to have facial [[Hypervolemia|plethora]], [[splenomegaly]], elevated [[hemoglobin]], and elevated [[platelet]] count. 

*In '''1951''', Sir William Dameshek, an American hematologist, discovered myeloproliferative neoplasms. Dr. Dameshek was a pioneer in the field and paved the way for future investigations into the details of this condition. He grouped a variety of conditions together and classified these individual conditions are myeloproliferative neoplasms.<ref>{{cite journal |author = Dameshek W | title = Some speculations on the myeloproliferative syndromes. | journal = Blood | volume = 6 | issue = 4 | pages = 372-5 | year = 1951 | id = PMID 14820991}}</ref>

*In '''1967''', Fialkow and colleagues showed evidence for clonally-derived myelopoiesis, based on studies showing the presence of the same ''[[Glucose-6-phosphate dehydrogenase|G6PD]]'' polymorphism in [[Red blood cell|erythrocytes]] and [[Granulocyte|granulocytes]]. These studies suggested that one clone gave rise to multiple cell types.<ref name="pmid18779404">{{cite journal| author=Levine RL, Gilliland DG| title=Myeloproliferative disorders. | journal=Blood | year= 2008 | volume= 112 | issue= 6 | pages= 2190-8 | pmid=18779404 | doi=10.1182/blood-2008-03-077966 | pmc=2962533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18779404  }} </ref>

*In '''1976''', Adamson and colleagues showed evidence for panmyeloid clonal expansion, meaning that a single clone could give rise to multiple lineages including [[Red blood cell|erythrocytes]], [[Granulocyte|granulocytes]], and [[Megakaryocyte|megakaryocytes]].<ref name="pmid18779404">{{cite journal| author=Levine RL, Gilliland DG| title=Myeloproliferative disorders. | journal=Blood | year= 2008 | volume= 112 | issue= 6 | pages= 2190-8 | pmid=18779404 | doi=10.1182/blood-2008-03-077966 | pmc=2962533 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18779404  }} </ref>

*In '''2005''', Ross Levine and colleagues found that the ''[[Janus kinase|JAK2]]'' ''V617F'' mutation was the molecular basis for [[polycythemia vera]], [[Essential thrombocytosis|essential thrombocythemia]], and [[myeloid metaplasia]] with [[myelofibrosis]].<ref name="pmid15837627">{{cite journal| author=Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ et al.| title=Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. | journal=Cancer Cell | year= 2005 | volume= 7 | issue= 4 | pages= 387-97 | pmid=15837627 | doi=10.1016/j.ccr.2005.03.023 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15837627  }} </ref> High-throughput sequencing of [[DNA]] was performed in patients who were diagnosed with these myeloproliferative neoplasms. Healthy persons were found to not harbor this [[mutation]], suggesting high specificity of the [[mutation]] for myeloproliferative neoplasm. It was noted that the ''[[Janus kinase|JAK2]]'' mutation resulted in a constitutively active [[tyrosine kinase]].<ref>{{cite journal | author = Baxter EJ, Scott LM, Campbell PJ, et al. | title = Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. | journal = Lancet | volume = 365 | pages = 1054-1061 | year = 2005 | id = PMID 15781101}}</ref><ref>{{cite journal | author = James C, Ugo V, Le Couedic JP, et al. | title = A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. | journal = Nature | volume = 434 | issue = 7037 | pages = 1144–1148 | year = 2005 | id =PMID 15793561}}</ref><ref>{{cite journal | author = Levine RL, Wadleigh M, Cools J, et al. | 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 | pages = 387–397  | year = 2005 | id = PMID 15837627}}</ref><ref>{{cite journal | author = Kralovics R, Passamonti F, Buser AS, et al. | title = A gain-of-function mutation of JAK2 in myeloproliferative disorders | journal = N Engl J Med | volume = 352 | issue = 17 | pages = 1779–1790 | year = 2005 | id = PMID 15858187}}</ref><ref>{{cite journal | author = Campbell PJ, Scott LM, Buck G, et al. | title = Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study | journal = Lancet | volume = 366 | issue = 9501 | pages = 1945–1953 | year = 2005 | id = PMID 16325696}}</ref> It was eventually noted that more than 95% of patients with [[polycythemia vera]] harbored the ''[[Janus kinase|JAK2]]'' ''V617F'' mutation, and 55-60% of patients with [[myelofibrosis]] had the [[mutation]]. The [[mutation]] was also found to be in 50% of patients with [[Myelofibrosis|primary myelofibrosis]].

*In '''2006''', Pikman and colleagues found that the ''MPL'' ''W515L'' [[mutation]] was associated with myeloproliferative neoplasms.<ref name="pmid16834459">{{cite journal| author=Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al.| title=MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. | journal=PLoS Med | year= 2006 | volume= 3 | issue= 7 | pages= e270 | pmid=16834459 | doi=10.1371/journal.pmed.0030270 | pmc=1502153 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16834459  }} </ref> It was noted that, in patients without the ''[[Janus kinase|JAK2]]'' ''V617F'' [[mutation]], the ''MPL'' mutation served as the pathogenic stimulus for myeloproliferation via activation of [[JAK-STAT signaling pathway|''JAK-STAT'' signaling]].<ref name="pmid16834459">{{cite journal| author=Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al.| title=MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. | journal=PLoS Med | year= 2006 | volume= 3 | issue= 7 | pages= e270 | pmid=16834459 | doi=10.1371/journal.pmed.0030270 | pmc=1502153 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16834459  }} </ref>

*In '''2007''', Scott and colleagues discovered that ''[[Janus kinase|JAK2]]'' exon 12 [[Mutation|mutations]] (which are distinct from the ''V617F'' [[mutation]] in exon 14) could result in [[polycythemia vera]].<ref name="pmid17267906">{{cite journal| author=Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al.| title=JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. | journal=N Engl J Med | year= 2007 | volume= 356 | issue= 5 | pages= 459-68 | pmid=17267906 | doi=10.1056/NEJMoa065202 | pmc=2873834 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17267906  }} </ref>

*In '''2008''', the World Health Organization developed original criteria for the diagnosis of myeloproliferative neoplasm.<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>

*In '''2009''', Langemeijer and colleagues noted that ''TET2'' and ''[[ASXL1]]'' [[Mutation|mutations]] and somatic copy-number loss were found to be associated with myeloproliferative neoplasms. These mutations were first found to be associated with [[myelodysplastic syndrome]]. These studies were conducted via [[single nucleotide polymorphism]] arrays and comparative [[Genomics|genomic]] hybridization.

*In '''2016''', the World Health Organization developed a revision for the diagnostic criteria for myeloproliferative neoplasm.

==References==
{{Reflist|2}}

[[Category:Medicine]]
[[Category:Hematology]]
[[Category:Oncology]]
[[Category:Up-To-Date]]