関: acute megakaryocytic leukemia、megakaryocytic leukemia

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of critical importance and consequence; "an acute (or critical) lack of research funds"
having or demonstrating ability to recognize or draw fine distinctions; "an acute observer of politics and politicians"; "incisive comments"; "icy knifelike reasoning"; "as sharp and incisive as the stroke of a fang"; "penetrating insight"; "frequent penetrative observations" (同)discriminating, incisive, keen, knifelike, penetrating, penetrative, piercing, sharp
extremely sharp or intense; "acute pain"; "felt acute annoyance"; "intense itching and burning" (同)intense
having or experiencing a rapid onset and short but severe course; "acute appendicitis"; "the acute phase of the illness"; "acute patients"
of an angle; less than 90 degrees
malignant neoplasm of blood-forming tissues; characterized by abnormal proliferation of leukocytes; one of the four major types of cancer (同)leukaemia, leucaemia, cancer of the blood

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(先の)『鋭い』,とがった / (痛み・感情などが)『激しい』,強い / (知力・感覚などが)『鋭い』,鋭敏な / (事態が)重大な / (病気が)急性の / (音が)高い,鋭い / 鋭角の
白血病

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/05/08 05:41:04」(JST)

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Acute megakaryoblastic leukemia (AMKL) is a form of leukemia where a majority of the blasts are megakaryoblastic.^[1]

It is classified under M7 in the French-American-British classification.^[2]

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.

Causes

It is associated with GATA1, and risks are increased in individuals with Down syndrome.^[3]

However, not all cases are associated with Down syndrome,^[4] and other genes can also be associated with AMKL.^[5]

Another related gene is MKL1, which is also known as "MAL".^[6] This gene is a cofactor of serum response factor.^[7]

Signs and Symptoms

In adults include pancytopenia with low blast counts in the blood, myelofibrosis, an absence of lymphadenopathy and hepatosplenomegaly, poor response to chemotherapy,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 years of life megakaryoblastic leukemia is the most common type of leukemia in patients with Downs syndrome.^[8]

Diagnosis

The morphology of cells was observed by means of bone marrow smear; the immunophenotype was detected by flow cytometry and immunohistochemistry assay.^[9]

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.^[10]

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.^[11]

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.^[12]

References

^ "Final Diagnosis -- Case 439". Archived from the original on 24 February 2008. Retrieved 2008-03-08.
^ "Acute Myeloid Leukemia - Signs and Symptoms".
^ 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. PMC 1896120. PMID 17360941.
^ Mercher T, Coniat MB, Monni R, et al. (May 2001). "Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia". Proc. Natl. Acad. Sci. U.S.A. 98 (10): 5776–9. doi:10.1073/pnas.101001498. PMC 33289. PMID 11344311.
^ Vartiainen MK, Guettler S, Larijani B, Treisman R (June 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL". Science 316 (5832): 1749–52. doi:10.1126/science.1141084. PMID 17588931.
^ Hitzler, JK (2007). "Acute megakaryoblastic leukemia in Down syndrome". Pediatric blood & cancer 49 (7 Suppl): 1066–9. doi:10.1002/pbc.21353. PMID 17943965.
^ Lei Q, Liu Y, Tang SQ (2007). "[Childhood acute megakaryoblastic leukemia]". Zhongguo Shi Yan Xue Ye Xue Za Zhi (in Chinese) 15 (3): 528–32. PMID 17605859.
^ Vardiman JW, Harris NL, Brunning RD (2002). "The World Health Organization (WHO) classification of the myeloid neoplasms". Blood 100 (7): 2292–302. doi:10.1182/blood-2002-04-1199. PMID 12239137.
^ Huret JL . t(1;22)(p13;q13). Atlas Genet Cytogenet Oncol Haematol.
^ Cuneo A, Cavazzini F, Castoldi GL . Acute megakaryoblastic leukemia (AMegL),M7 acute non lymphocytic leukemia (M7-ANLL). Atlas Genet Cytogenet Oncol Haematol.

External links

Histology at University of Virginia
Images at Nagoya University

UpToDate Contents

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1. 急性骨髄性白血病の分類 classification of acute myeloid leukemia
2. 原発性骨髄線維症の臨床症状および診断 clinical manifestations and diagnosis of primary myelofibrosis
3. ダウン症：臨床的特徴および診断 down syndrome clinical features and diagnosis
4. 小児および思春期における急性骨髄性白血病 acute myeloid leukemia in children and adolescents
5. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia

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Acute megakaryoblastic leukemia is a rare subtype of acute myeloid leukemia with a characteristic morphologic and immunophenotypic profile. It has to be distinguished from other subtypes of acute myeloid leukemia as well as acute myeloid leukemia with t (1; 22) (p13;q13) and acute megakaryoblastic l
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Japanese Journal

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12歳，去勢雄の雑種犬が跛行と元気消失を主訴に来院した．血液塗抹では芽球様細胞が観察され，針生検にて骨髄及び脾臓に巨核球様芽球細胞の著しい増殖が認められた．同細胞はフローサイトメトリー（FCM）にて，血小板及び巨核球に発現するCD41/CD61抗原に陽性を示すことから，巨核球系細胞に由来することが示され，本症例は急性巨核芽球性白血病（AML-M7）と診断された．プレドニゾロン投与により一般状態は改 …
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