Acute megakaryoblastic leukemia pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
It is associated with [[GATA1]], and risks are increased in individuals with [[Down syndrome]].<ref name="pmid12586620">{{cite journal |author=Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A |title=GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome |journal=Blood |volume=101 |issue=11 |pages=4301–4 |year=2003 |pmid=12586620 |doi=10.1182/blood-2003-01-0013 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12586620}}</ref> However, not all cases are associated with Down syndrome,<ref name="pmid18275433">{{cite journal |author=Hama A, Yagasaki H, Takahashi Y, ''et al'' |title=Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome |journal=Br. J. Haematol. |volume=140 |issue=5 |pages=552–61 |year=2008 |pmid=18275433 |doi=10.1111/j.1365-2141.2007.06971.x |url=http://dx.doi.org/10.1111/j.1365-2141.2007.06971.x}}</ref> and other genes can also be associated with AMKL.<ref name="pmid17360941">{{cite journal |author=Gu TL, Mercher T, Tyner JW, ''et al'' |title=A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia |journal=Blood |volume=110 |issue=1 |pages=323–33 |year=2007 |pmid=17360941 |doi=10.1182/blood-2006-10-052282 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=17360941}}</ref> | It is associated with [[GATA1]], and risks are increased in individuals with [[Down syndrome]].<ref name="pmid12586620">{{cite journal |author=Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A |title=GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome |journal=Blood |volume=101 |issue=11 |pages=4301–4 |year=2003 |pmid=12586620 |doi=10.1182/blood-2003-01-0013 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12586620}}</ref> However, not all cases are associated with Down syndrome,<ref name="pmid18275433">{{cite journal |author=Hama A, Yagasaki H, Takahashi Y, ''et al'' |title=Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome |journal=Br. J. Haematol. |volume=140 |issue=5 |pages=552–61 |year=2008 |pmid=18275433 |doi=10.1111/j.1365-2141.2007.06971.x |url=http://dx.doi.org/10.1111/j.1365-2141.2007.06971.x}}</ref> and other genes can also be associated with AMKL.<ref name="pmid17360941">{{cite journal |author=Gu TL, Mercher T, Tyner JW, ''et al'' |title=A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia |journal=Blood |volume=110 |issue=1 |pages=323–33 |year=2007 |pmid=17360941 |doi=10.1182/blood-2006-10-052282 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=17360941}}</ref> | ||
This category of AML is | This category of AML(M7 subtype) is associated with 30% or more blasts in the marrow. Blasts are identified as being of megakaryocyte lineage by; expression of [[megakaryocyte]] specific [[antigen]]s and platelet [[peroxidase]] reaction on electron microscopy or by conducting tests that detect platelet-specific antibodies.<ref name="Bennett1985">{{cite journal|last1=Bennett|first1=John M.|title=Criteria for the Diagnosis of Acute Leukemia of Megakaryocyte Lineage (M7)|journal=Annals of Internal Medicine|volume=103|issue=3|year=1985|pages=460|issn=0003-4819|doi=10.7326/0003-4819-103-3-460}}</ref> Transient leukemia (TL) occurs in approximately10% of Down syndrome infants, which is also attributed as transient myeloproliferative disorder.<ref name="Zipursky2003">{{cite journal|last1=Zipursky|first1=Alvin|title=Transient leukaemia - a benign form of leukaemia in newborn infants with trisomy 21|journal=British Journal of Haematology|volume=120|issue=6|year=2003|pages=930–938|issn=00071048|doi=10.1046/j.1365-2141.2003.04229.x}}</ref><ref name="PineGuo2007">{{cite journal|last1=Pine|first1=Sharon R.|last2=Guo|first2=Qianxu|last3=Yin|first3=Changhong|last4=Jayabose|first4=Somasundaram|last5=Druschel|first5=Charlotte M.|last6=Sandoval|first6=Claudio|title=Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome|journal=Blood|volume=110|issue=6|year=2007|pages=2128–2131|issn=0006-4971|doi=10.1182/blood-2007-01-069542}}</ref> In most cases, TL spontaneously resolves; however, during the first four year of life, it progresses to acute megakaryoblastic leukemia in 13% to 33% of patients.<ref name="KlusmannCreutzig2008">{{cite journal|last1=Klusmann|first1=Jan-Henning|last2=Creutzig|first2=Ursula|last3=Zimmermann|first3=Martin|last4=Dworzak|first4=Michael|last5=Jorch|first5=Norbert|last6=Langebrake|first6=Claudia|last7=Pekrun|first7=Arnulf|last8=Macakova-Reinhardt|first8=Katarina|last9=Reinhardt|first9=Dirk|title=Treatment and prognostic impact of transient leukemia in neonates with Down syndrome|journal=Blood|volume=111|issue=6|year=2008|pages=2991–2998|issn=0006-4971|doi=10.1182/blood-2007-10-118810}}</ref> | ||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
It is associated with GATA1, and risks are increased in individuals with Down syndrome.[1] However, not all cases are associated with Down syndrome,[2] and other genes can also be associated with AMKL.[3]
This category of AML(M7 subtype) is associated with 30% or more blasts in the marrow. Blasts are identified as being of megakaryocyte lineage by; expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy or by conducting tests that detect platelet-specific antibodies.[4] Transient leukemia (TL) occurs in approximately10% of Down syndrome infants, which is also attributed as transient myeloproliferative disorder.[5][6] In most cases, TL spontaneously resolves; however, during the first four year of life, it progresses to acute megakaryoblastic leukemia in 13% to 33% of patients.[7]
References
- ↑ Hitzler JK, Cheung J, Li Y, Scherer SW, Zipursky A (2003). "GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome". Blood. 101 (11): 4301–4. doi:10.1182/blood-2003-01-0013. PMID 12586620.
- ↑ Hama A, Yagasaki H, Takahashi Y; et al. (2008). "Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome". Br. J. Haematol. 140 (5): 552–61. doi:10.1111/j.1365-2141.2007.06971.x. PMID 18275433.
- ↑ Gu TL, Mercher T, Tyner JW; et al. (2007). "A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia". Blood. 110 (1): 323–33. doi:10.1182/blood-2006-10-052282. PMID 17360941.
- ↑ Bennett, John M. (1985). "Criteria for the Diagnosis of Acute Leukemia of Megakaryocyte Lineage (M7)". Annals of Internal Medicine. 103 (3): 460. doi:10.7326/0003-4819-103-3-460. ISSN 0003-4819.
- ↑ Zipursky, Alvin (2003). "Transient leukaemia - a benign form of leukaemia in newborn infants with trisomy 21". British Journal of Haematology. 120 (6): 930–938. doi:10.1046/j.1365-2141.2003.04229.x. ISSN 0007-1048.
- ↑ Pine, Sharon R.; Guo, Qianxu; Yin, Changhong; Jayabose, Somasundaram; Druschel, Charlotte M.; Sandoval, Claudio (2007). "Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome". Blood. 110 (6): 2128–2131. doi:10.1182/blood-2007-01-069542. ISSN 0006-4971.
- ↑ Klusmann, Jan-Henning; Creutzig, Ursula; Zimmermann, Martin; Dworzak, Michael; Jorch, Norbert; Langebrake, Claudia; Pekrun, Arnulf; Macakova-Reinhardt, Katarina; Reinhardt, Dirk (2008). "Treatment and prognostic impact of transient leukemia in neonates with Down syndrome". Blood. 111 (6): 2991–2998. doi:10.1182/blood-2007-10-118810. ISSN 0006-4971.