Acute megakaryoblastic leukemia

Infobox_Disease
Name = Acute megakaryoblastic leukemia


Caption = AML-M7, bone marrow section
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ICD10 =
ICD9 =
ICDO = ICDO|9910|3
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MeshID = D007947

Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic.cite web |url=http://path.upmc.edu/cases/case439/dx.html |title=Final Diagnosis -- Case 439 |accessdate=2008-03-08 |format= |work=]

It is classified under M7 in the French-American-British classification.cite web |url=http://www.ucsfhealth.org/adult/medical_services/cancer/leukemia/conditions/aml/signs.html |title=Acute Myeloid Leukemia - Signs and Symptoms |format= |work=]

It is associated with GATA1, and risks are increased in individuals with Down syndrome.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] However, not all cases are associated with Down syndrome,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] and other genes can also be associated with AMKL.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]

This category of AML is associate with 30% or more blasts in the marrow, blast are identified as being of megakaryocyte lineage by; Expression of megakaryocyte specific antigens and platelet peroxidase reaction on electron microscopy.

igns and Symptoms

In adults include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemptherapy,and short clinical course.In children; the same clinical presentation but with variable course especially in very young children; both leukocytosis and organomegaly may be present in children with M7. Complete remission and long term survival are more common in children than adults.In the first three of life megakaryoblastic leukemia is the most common type of leukemia in patients with Downs syndrome. [Hitzler JK. (2007) Acute megakaryoblastic leukemia in Down syndrome. Pediatr Blood Cancer. Dec;49(7 Suppl):1066-9. PMID: 17943965. ]

Diagnosis

The morphology of cells was observed by means of bone marrow smear; the immunophenotype was detected by flow cytometry and immunohistochemistry assay.cite journal |author=Lei Q, Liu Y, Tang SQ |title= [Childhood acute megakaryoblastic leukemia] |language=Chinese |journal=Zhongguo Shi Yan Xue Ye Xue Za Zhi |volume=15 |issue=3 |pages=528–32 |year=2007 |pmid=17605859 |doi=]

In blood and bone marrow smears megakaryoblasts are usually medium sized to large cells with a high nuclear- cytoplasmic ratio. Nuclear chromatin is dense and homogeneous. There is scanty, variable basophilic cytoplasm which may be vacuolated. An irregular cytoplasmic border is often noted in some of the megakaryoblasts and occasionally projections resembling budding atypical platelets are present. Megakaryoblasts lack myeloperoxidase activity and stain negatively with sudan black B. They are alpha naphthyl butyrate esterase negative and manifest variable alpha naphythyl acetate esterase activity usually in scattered clumps or granules in the cytoplasm. PAS staining also varies from negative to focal or granular positivity, to strongly positive staining. A marrow aspirate is difficult to obtain in many cases because of variable degree of myelofibrosis. More precise identification by immunophenotyping or with electron microscopy (EM). Immunophenotyping using MoAb to megakaryocyte restricted antigen (CD41 and CD61) may be diagnostic.cite journal |author=Vardiman JW, Harris NL, Brunning RD |title=The World Health Organization (WHO) classification of the myeloid neoplasms |journal=Blood |volume=100 |issue=7 |pages=2292–302 |year=2002 |pmid=12239137 |doi=10.1182/blood-2002-04-1199 |url=http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=12239137]

Prognosis

Prognosis depends on cause. One third of cases is associated with a t(1;22)(p13;q13) mutation in children. These cases carry a poor prognosis. [Huret JL . [http://AtlasGeneticsOncology.org/Anomalies/t0122.html t(1;22)(p13;q13)] . Atlas Genet Cytogenet Oncol Haematol.]

Another third of cases is found in Down syndrome. These cases have a reasonably fair prognosis.

The last third of cases may be heterogeneous, and carry a poor prognosis. [ Cuneo A, Cavazzini F, Castoldi GL . [http://AtlasGeneticsOncology.org/Anomalies/M7ANLLID1100.html Acute megakaryoblastic leukemia (AMegL),M7 acute non lymphocytic leukemia (M7-ANLL)] . Atlas Genet Cytogenet Oncol Haematol.]

References

External links

* [http://www.med-ed.virginia.edu/courses/path/innes/wcd/myeloid1.cfm Histology] at University of Virginia
* [http://pathy.med.nagoya-u.ac.jp/atlas/doc/node49.html#SECTION00418000000000000000 Images] at Nagoya University