Myelofibrosis pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
Genes involved in the pathogenesis of myelofibrosis include ''[[JAK2]]'', ''[[Calreticulin|CALR]]'', and ''[[Myeloproliferative leukemia virus oncogene|MPL]]''.<ref name="TefferiLasho2014">{{cite journal|last1=Tefferi|first1=A|last2=Lasho|first2=T L|last3=Finke|first3=C M|last4=Knudson|first4=R A|last5=Ketterling|first5=R|last6=Hanson|first6=C H|last7=Maffioli|first7=M|last8=Caramazza|first8=D|last9=Passamonti|first9=F|last10=Pardanani|first10=A|title=CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons|journal=Leukemia|volume=28|issue=7|year=2014|pages=1472–1477|issn=0887-6924|doi=10.1038/leu.2014.3}}</ref> | Genes involved in the pathogenesis of myelofibrosis include ''[[JAK2]]'', ''[[Calreticulin|CALR]]'', and ''[[Myeloproliferative leukemia virus oncogene|MPL]]''.<ref name="TefferiLasho2014">{{cite journal|last1=Tefferi|first1=A|last2=Lasho|first2=T L|last3=Finke|first3=C M|last4=Knudson|first4=R A|last5=Ketterling|first5=R|last6=Hanson|first6=C H|last7=Maffioli|first7=M|last8=Caramazza|first8=D|last9=Passamonti|first9=F|last10=Pardanani|first10=A|title=CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons|journal=Leukemia|volume=28|issue=7|year=2014|pages=1472–1477|issn=0887-6924|doi=10.1038/leu.2014.3}}</ref> | ||
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==Pathogenesis== | |||
*Bone marrow is replaced with collagen fibrosis due to cytokines, which are released from abnormal hematopoietic cells. | *Bone marrow is replaced with collagen fibrosis due to cytokines, which are released from abnormal hematopoietic cells. | ||
*Bone marrow is not able to make enough blood cells. | *Bone marrow is not able to make enough blood cells. | ||
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*Extramedullary hematopoiesis takes place, which causes [[hepatomegaly]] and [[splenomegaly]]. | *Extramedullary hematopoiesis takes place, which causes [[hepatomegaly]] and [[splenomegaly]]. | ||
*Secondary myelofibrosis may be caused by other blood malignancies, such as leukemia and lymphoma. | *Secondary myelofibrosis may be caused by other blood malignancies, such as leukemia and lymphoma. | ||
Genes involved in the pathogenesis of myelofibrosis include | ==Genetics== | ||
*Development of myelofibrosis is the result of multiple genetic mutations.<ref name=causesofmyelofibrosis1wiki1>Causes of myelofibrosis. Wikipedia 2016. https://en.wikipedia.org/wiki/Myelofibrosis. Accessed on March 7, 2016</ref> | |||
*Genes involved in the pathogenesis of myelofibrosis include:<ref name="TefferiLasho2014">{{cite journal|last1=Tefferi|first1=A|last2=Lasho|first2=T L|last3=Finke|first3=C M|last4=Knudson|first4=R A|last5=Ketterling|first5=R|last6=Hanson|first6=C H|last7=Maffioli|first7=M|last8=Caramazza|first8=D|last9=Passamonti|first9=F|last10=Pardanani|first10=A|title=CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons|journal=Leukemia|volume=28|issue=7|year=2014|pages=1472–1477|issn=0887-6924|doi=10.1038/leu.2014.3}}</ref><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=http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(05)71142-9}}</ref><ref name="pmid16834459">{{cite journal |author=Pikman Y, Lee BH, Mercher T, ''et al'' |title=MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia |journal=PLoS Med. |volume=3 |issue=7 |pages=e270 |year=2006 |month=July |pmid=16834459 |pmc=1502153 |doi=10.1371/journal.pmed.0030270 |url=http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0030270}}</ref> | |||
:* ''[[JAK2]]'' | |||
:*''[[Calreticulin|CALR]]'' | |||
:*''[[Myeloproliferative leukemia virus oncogene|MPL]]'' | |||
* Approximately 90% of those with myelofibrosis have one of these [[mutation]]s. These mutations are not specific to myelofibrosis, and are linked to other myeloproliferative disorders, specifically [[essential thrombocythemia]].<ref name=causesofmyelofibrosis1wiki1>Causes of myelofibrosis. Wikipedia 2016. https://en.wikipedia.org/wiki/Myelofibrosis. Accessed on March 7, 2016</ref> | |||
==References== | ==References== | ||
Revision as of 19:20, 7 March 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Genes involved in the pathogenesis of myelofibrosis include JAK2, CALR, and MPL.[1]
Pathogenesis
- Bone marrow is replaced with collagen fibrosis due to cytokines, which are released from abnormal hematopoietic cells.
- Bone marrow is not able to make enough blood cells.
- Anemia, bleeding tendency, and infections may occur.
- Extramedullary hematopoiesis takes place, which causes hepatomegaly and splenomegaly.
- Secondary myelofibrosis may be caused by other blood malignancies, such as leukemia and lymphoma.
Genetics
- Development of myelofibrosis is the result of multiple genetic mutations.[2]
- Genes involved in the pathogenesis of myelofibrosis include:[1][3][4]
- Approximately 90% of those with myelofibrosis have one of these mutations. These mutations are not specific to myelofibrosis, and are linked to other myeloproliferative disorders, specifically essential thrombocythemia.[2]
References
- ↑ 1.0 1.1 Tefferi, A; Lasho, T L; Finke, C M; Knudson, R A; Ketterling, R; Hanson, C H; Maffioli, M; Caramazza, D; Passamonti, F; Pardanani, A (2014). "CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons". Leukemia. 28 (7): 1472–1477. doi:10.1038/leu.2014.3. ISSN 0887-6924.
- ↑ 2.0 2.1 Causes of myelofibrosis. Wikipedia 2016. https://en.wikipedia.org/wiki/Myelofibrosis. Accessed on March 7, 2016
- ↑ 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.
- ↑ Pikman Y, Lee BH, Mercher T; et al. (2006). "MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia". PLoS Med. 3 (7): e270. doi:10.1371/journal.pmed.0030270. PMC 1502153. PMID 16834459. Unknown parameter
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