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Acute megakaryoblastic leukemia

MedGen UID:
44124
Concept ID:
C0023462
Neoplastic Process
Synonym: Acute megakaryocytic leukemia
SNOMED CT: Acute megakaryoblastic leukemia, FAB M7 (277602003); Acute megakaryoblastic leukemia, morphology (52220008); Thrombocytic leukemia (188754005); Megakaryocytic leukemia (188754005); Acute megakaryoblastic leukemia (277602003); M7 - Acute megakaryoblastic leukemia (277602003); Acute megakaryoblastic leukemia (52220008); Megakaryocytic leukemia (52220008); Megakaryocytic myelosis (52220008); Malignant megakaryocytosis (52220008); Megakaryoblastic leukemia (52220008); FAB M7 (52220008)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0006733
Monarch Initiative: MONDO:0018872
Orphanet: ORPHA518

Definition

A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. [from HPO]

Conditions with this feature

Down syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.\n\nPeople with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.\n\nIndividuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).\n\nDelayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.\n\nPeople with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer's disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer's disease. Although Alzheimer's disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.

Professional guidelines

PubMed

Suzuki K, Hama A, Okuno Y, Xu Y, Narita A, Yoshida N, Muramatsu H, Nishio N, Kato K, Kojima S, Yoo KH, Takahashi Y
Haematologica 2024 Jun 1;109(6):1936-1940. doi: 10.3324/haematol.2023.283760. PMID: 38299674Free PMC Article
De Marchi F, Araki M, Komatsu N
Expert Rev Hematol 2019 May;12(5):285-293. Epub 2019 Apr 27 doi: 10.1080/17474086.2019.1609351. PMID: 30991862
Reinhardt D, Diekamp S, Langebrake C, Ritter J, Stary J, Dworzak M, Schrauder A, Zimmermann M, Fleischhack G, Ludwig WD, Harbott J, Creutzig U
Leukemia 2005 Aug;19(8):1495-6. doi: 10.1038/sj.leu.2403815. PMID: 15920489

Recent clinical studies

Etiology

Sato T, Yoshida K, Toki T, Kanezaki R, Terui K, Saiki R, Ojima M, Ochi Y, Mizuno S, Yoshihara M, Uechi T, Kenmochi N, Tanaka S, Matsubayashi J, Kisai K, Kudo K, Yuzawa K, Takahashi Y, Tanaka T, Yamamoto Y, Kobayashi A, Kamio T, Sasaki S, Shiraishi Y, Chiba K, Tanaka H, Muramatsu H, Hama A, Hasegawa D, Sato A, Koh K, Karakawa S, Kobayashi M, Hara J, Taneyama Y, Imai C, Hasegawa D, Fujita N, Yoshitomi M, Iwamoto S, Yamato G, Saida S, Kiyokawa N, Deguchi T, Ito M, Matsuo H, Adachi S, Hayashi Y, Taga T, Saito AM, Horibe K, Watanabe K, Tomizawa D, Miyano S, Takahashi S, Ogawa S, Ito E
Blood 2024 Jun 20;143(25):2627-2643. doi: 10.1182/blood.2023022247. PMID: 38513239
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free PMC Article
Masetti R, Guidi V, Ronchini L, Bertuccio NS, Locatelli F, Pession A
Crit Rev Oncol Hematol 2019 Jun;138:132-138. Epub 2019 Apr 15 doi: 10.1016/j.critrevonc.2019.04.011. PMID: 31092368
Bacher U, Kohlmann A, Haferlach C, Haferlach T
Best Pract Res Clin Haematol 2009 Jun;22(2):169-80. doi: 10.1016/j.beha.2009.04.003. PMID: 19698926
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Diagnosis

Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
Yoshino H, Gemma Y, Miyazawa N, Bessho F, Yan K
Pediatr Int 2022 Jan;64(1):e14842. doi: 10.1111/ped.14842. PMID: 35103363
Wertheim G
Clin Lab Med 2021 Sep;41(3):541-550. doi: 10.1016/j.cll.2021.04.002. PMID: 34304781
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free PMC Article
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843

Therapy

Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843
Kandi R, Gutti U, Saladi RG, Gutti RK
Hematol Oncol Stem Cell Ther 2015 Jun;8(2):95-7. Epub 2014 Dec 27 doi: 10.1016/j.hemonc.2014.11.008. PMID: 25571789
Peterson BA, Levine EG
Semin Oncol 1987 Dec;14(4):425-34. PMID: 3321447

Prognosis

Kuusanmäki H, Dufva O, Vähä-Koskela M, Leppä AM, Huuhtanen J, Vänttinen I, Nygren P, Klievink J, Bouhlal J, Pölönen P, Zhang Q, Adnan-Awad S, Mancebo-Pérez C, Saad J, Miettinen J, Javarappa KK, Aakko S, Ruokoranta T, Eldfors S, Heinäniemi M, Theilgaard-Mönch K, Wartiovaara-Kautto U, Keränen M, Porkka K, Konopleva M, Wennerberg K, Kontro M, Heckman CA, Mustjoki S
Blood 2023 Mar 30;141(13):1610-1625. doi: 10.1182/blood.2021011094. PMID: 36508699Free PMC Article
Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M
Genes (Basel) 2021 Jun 17;12(6) doi: 10.3390/genes12060924. PMID: 34204358Free PMC Article
McNulty M, Crispino JD
Cold Spring Harb Perspect Med 2020 Feb 3;10(2) doi: 10.1101/cshperspect.a034884. PMID: 31548219Free PMC Article
Hahn AW, Li B, Prouet P, Giri S, Pathak R, Martin MG
Blood Rev 2016 Jan;30(1):49-53. Epub 2015 Jul 18 doi: 10.1016/j.blre.2015.07.005. PMID: 26228843
Moiz B, Shafiq M
Blood 2012 Dec 6;120(24):4672. doi: 10.1182/blood-2012-07-440917. PMID: 23350067

Clinical prediction guides

Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB
Pediatr Blood Cancer 2023 May;70(5):e30251. Epub 2023 Feb 15 doi: 10.1002/pbc.30251. PMID: 36789545Free PMC Article
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Tadokoro S, Nakazawa T, Kamae T, Kiyomizu K, Kashiwagi H, Honda S, Kanakura Y, Tomiyama Y
Blood 2011 Jan 6;117(1):250-8. Epub 2010 Oct 12 doi: 10.1182/blood-2009-10-246751. PMID: 20940419
Bacher U, Kohlmann A, Haferlach C, Haferlach T
Best Pract Res Clin Haematol 2009 Jun;22(2):169-80. doi: 10.1016/j.beha.2009.04.003. PMID: 19698926
Muntean AG, Ge Y, Taub JW, Crispino JD
Leuk Lymphoma 2006 Jun;47(6):986-97. doi: 10.1080/10428190500485810. PMID: 16840187

Supplemental Content

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