[Myeloid proliferations related to Down syndrome].
Hasegawa D.
Rinsho Ketsueki. 2019;60(9):1299-1307. doi: 10.11406/rinketsu.60.1299.
Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.
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.
Management of Down Syndrome-Associated Leukemias: A Review.
Verma A, Lupo PJ, Shah NN, Hitzler J, Rabin KR.
JAMA Oncol. 2023 Sep 1;9(9):1283-1290. doi: 10.1001/jamaoncol.2023.2163.
Leukemia.
Chennamadhavuni A, Iyengar V, Mukkamalla SKR, Shimanovsky A.
2023 Jan 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.
Liu YC, Eldomery MK, Maciaszek JL, Klco JM.
Annu Rev Pathol. 2025 Jan;20(1):87-114. doi: 10.1146/annurev-pathmechdis-111523-023420. Epub 2025 Jan 2.
GATA1-related leukaemias.
Shimizu R, Engel JD, Yamamoto M.
Nat Rev Cancer. 2008 Apr;8(4):279-87. doi: 10.1038/nrc2348.
Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation.
Nishinaka-Arai Y, Niwa A, Matsuo S, Kazuki Y, Yakura Y, Hiroma T, Toki T, Sakuma T, Yamamoto T, Ito E, Oshimura M, Nakahata T, Saito MK.
Haematologica. 2021 Feb 1;106(2):635-640. doi: 10.3324/haematol.2019.242693.
Low-dose cytarabine to prevent myeloid leukemia in children with Down syndrome: TMD Prevention 2007 study.
Flasinski M, Scheibke K, Zimmermann M, Creutzig U, Reinhardt K, Verwer F, de Haas V, van der Velden VHJ, von Neuhoff C, Zwaan CM, Reinhardt D, Klusmann JH.
Blood Adv. 2018 Jul 10;2(13):1532-1540. doi: 10.1182/bloodadvances.2018018945.
Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome.
Lee WY, Weinberg OK, Evans AG, Pinkus GS.
Am J Clin Pathol. 2018 Mar 7;149(4):300-309. doi: 10.1093/ajcp/aqy001.
Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.
Kanezaki R, Toki T, Terui K, Sato T, Kobayashi A, Kudo K, Kamio T, Sasaki S, Kawaguchi K, Watanabe K, Ito E.
Sci Rep. 2022 Nov 29;12(1):20587. doi: 10.1038/s41598-022-25046-z.
