Difference between revisions of "Myeloproliferative neoplasms"
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* BCR-ABL1 negative (DDx: [[Leukemia]] (BCR-ABL1 positive)) | * 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> | * 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== | ||
Revision as of 08:38, 9 December 2015
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).
Grouping
They include the following:[1]
- Polycythemia vera.
- Essential thrombocythemia.
- Idiopathic myelofibrosis.
Clinic
- moderate to severe anemia
- pale skin
- fatigue
- prolonged bleeding
- enlarged spleen
- increased clotting
Molecular
- BCR-ABL1 negative (DDx: Leukemia (BCR-ABL1 positive))
- A specific JAK2 mutation (Val617Phe) in seen in a group of patients.[1][2]
- In JAK2-negative cases, CALR or MPL-Mutations are often found.[3]
See also
References
- ↑ 1.0 1.1 Baxter EJ, Scott LM, Campbell PJ, et al. (2005). "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders". Lancet 365 (9464): 1054–61. doi:10.1016/S0140-6736(05)71142-9. PMID 15781101.
- ↑ Steensma DP, Dewald GW, Lasho TL, et al. (August 2005). "The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes". Blood 106 (4): 1207–9. doi:10.1182/blood-2005-03-1183. PMC 1895198. PMID 15860661. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895198/.
- ↑ Nangalia, J.; Green, TR. (Dec 2014). "The evolving genomic landscape of myeloproliferative neoplasms.". Hematology Am Soc Hematol Educ Program 2014 (1): 287-96. doi:10.1182/asheducation-2014.1.287. PMID 25696868.