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Difference between revisions of "Myeloproliferative neoplasms"
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'''Myeloproliferative neoplasms''', also '''myeloproliferative disorders''', are a group of indolent hematologic neoplasms. | '''Myeloproliferative neoplasms''', also '''myeloproliferative disorders''', are a group of indolent hematologic neoplasms characterized by clonal expansion of pluripotent hematopoietic progenitor. | ||
These should '''not''' be confused with ''[[myelodysplastic syndromes]]'' (MDS), the main difference is that MPNs produce functional haematological cells detectable on a complete blood count, whereas in MDS, hematopoisis is ineffective and is characterised by cytopenias. | |||
==Grouping== | ==Grouping== | ||
They include the following:<ref name=pmid15781101>{{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 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=}}</ref> | They include the following:<ref name=pmid15781101>{{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 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=}}</ref> | ||
*Polycythemia vera. | *[[Chronic myeloid leukemia]] | ||
*Essential thrombocythaemia. | *[[Polycythemia vera]] | ||
* | *[[Essential thrombocythemia]]. | ||
*[[Idiopathic myelofibrosis]]. | |||
==Clinic== | |||
* increase in blood count(s), dependent on type of MPN | |||
* anemia may occur in late stage disease or due leukemic transformation | |||
* pale skin | |||
* fatigue | |||
* enlarged spleen | |||
* increased clotting (i.e. thrombosis) | |||
==Polycythemia vera== | |||
*ICD-O: 9950/3 | |||
*Median age: 60 years. | |||
*Median survival: >10years. | |||
*Typical course: | |||
**Prodromal stadium: Mild erythrocytosis. | |||
**Polycythemic phase: Increased RBC count. | |||
**Post-polycythemic ("spent") phase: Ineffective hematopoiesis, bone marrow fibrosis. | |||
*Transformation to [[AML]] possible (2-3%). | |||
===Morphology=== | |||
*Panmyelosis. | |||
*Many megakaryocytes in bone marrow section. | |||
*Increased cellularity of bone marrow (35-100%). | |||
*Teardrop-RBC cells (dacrocytes) in late stage. | |||
*Fibrosis (reticulin stain). | |||
==Essential thrombocythaemia== | |||
*ICD-O: 9962/3 | |||
*Median age: 55 years. | |||
*Mostly asymptomatic. | |||
*Indolent course, long-term survival. Life-threatening thromboembolic epsisodes. | |||
===Morphology=== | |||
*Thrombocytosis. | |||
*Bone marrow normo- to slightly hypercellular. | |||
*Large hypersegmented megakaryocytes in bone-marrow. | |||
*Usually no BM fibrosis. | |||
==Images== | |||
<gallery> | |||
File:Thrombocytosis.jpg | Thrombocythemia. Peripheral blood (WC/Erhabor Osario) | |||
File:Polycythemia_vera,_blood_smear.jpg | Polycythemia vera. Peripheral blood (WC/Orlandi Mourao) | |||
File:Teardrop Cells smear 2009-09-22.JPG | Teardrop RBC cells in polycythemia vera. Peripheral blood (WC/AFIP) | |||
File:Essential Thrombocythemia, Peripheral Blood (10189570483).jpg | Essential thrombocythemia. Peripheral blood (WC/Ed Uthman) | |||
File:Essential thrombocythemia (2).jpg | Essential thrombocythemia. Bone marrow (WC/KGH) | |||
</gallery> | |||
==Molecular== | ==Molecular== | ||
A specific JAK2 mutation (Val617Phe) in seen in a group of patients.<ref name=pmid15781101>{{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 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=}}</ref><ref name=pmid15860661>{{cite journal |author=Steensma DP, Dewald GW, Lasho TL, ''et al.'' |title=The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes |journal=Blood |volume=106 |issue=4 |pages=1207–9 |year=2005 |month=August |pmid=15860661 |pmc=1895198 |doi=10.1182/blood-2005-03-1183 |url=}}</ref> | * BCR-ABL1 negative (DDx: [[Leukemia]] (BCR-ABL1 positive)) | ||
* A specific JAK2 mutation (Val617Phe) in seen in a group of patients.<ref name=pmid15781101>{{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 |issue=9464 |pages=1054–61 |year=2005 |pmid=15781101 |doi=10.1016/S0140-6736(05)71142-9 |url=}}</ref><ref name=pmid15860661>{{cite journal |author=Steensma DP, Dewald GW, Lasho TL, ''et al.'' |title=The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes |journal=Blood |volume=106 |issue=4 |pages=1207–9 |year=2005 |month=August |pmid=15860661 |pmc=1895198 |doi=10.1182/blood-2005-03-1183 |url=}}</ref> | |||
**In JAK2-negative cases, CALR or MPL-Mutations are often found.<ref>{{Cite journal | last1 = Nangalia | first1 = J. | last2 = Green | first2 = TR. | title = The evolving genomic landscape of myeloproliferative neoplasms. | journal = Hematology Am Soc Hematol Educ Program | volume = 2014 | issue = 1 | pages = 287-96 | month = Dec | year = 2014 | doi = 10.1182/asheducation-2014.1.287 | PMID = 25696868 }}</ref> | |||
==See also== | ==See also== | ||