TY  - JOUR
T1  - Down Sendromlu Bir Yenidoğanda Geçici Miyeloproliferatif Hastalık: Olgu Sunumu
TT  - Transient Myeloproliferative Disease in a Newborn with Down Syndrome: Case Report
AU  - Doğan, Methiye
AU  - Özdemir, Emine
AU  - Akkuş, Tuğçe
AU  - Tarakçı, Nuriye
AU  - Tokgöz, Hüseyin
AU  - Altunhan, Hüseyin
PY  - 2024
DA  - September
Y2  - 2024
JF  - Niğde Tıp Dergisi
PB  - Niğde Ömer Halisdemir Üniversitesi
WT  - DergiPark
SN  - 3023-7149
SP  - 76
EP  - 80
IS  - 2
LA  - tr
AB  - Down sendromlu hastalarda geçici anormal miyelopoez sonucu hematolojik malignitelerin sıklığı artmıştır. Geçici miyeloproliferatif hastalık tedavisiz spontan gerileyebilmekle beraber %30 vakada miyeloid lösemi gelişebilmektedir. Down sendromunda görülen lösemilere özgü 21. kromozomdaki trizomik hücrelerde GATA1 mutasyonu saptanabilmektedir. Bu yazıda, Down sendromlu bir yenidoğanda GATA1 mutasyonu sonucu gelişen geçici miyeloproliferatif hastalık olgusunu sunuyoruz.
KW  - Down sendromu
KW  - Lösemi
KW  - Yenidoğan
KW  - GATA1 mutasyonu
N2  - The frequency hematological malignancies is increased in patients with Down syndrome as a result of transient abnormal myelopoiesis. Although transient myeloproliferative disease may regress spontaneously without treatment, myeloid leukemia may develop in 30% of cases. GATA1 mutation can be detected in trizomic cells on chromosome 21, which are spesific to leukemias seen in Down syndrome. In this article, we present a case of transient myeloproliferative disease that developed as a result of GATA1 mutation in a newborn with Down syndrome.
CR  - Kosmidou A, Tragiannidis A, Gavriilaki E. Myeloid Leukemia of Down Syndrome. Cancers 2023;15(13):3265. doi:10.3390/cancers15133265.
CR  - Glivetic T, Rodin U, Milosevic M, Mayer D, Filipovic-Grcic B, et al. Prevalence, prenatal screening and neonatal features in children with Down syndrome: a registry- based national study. Ital J Pediatr. 2015;41(1). doi: 10.1186/s13052-015-0192-9.
CR  - Massey GV. Transient leukemia in newborns with Down syndrome. Pediatr Blood Cancer. 2005;44(1):29-32. doi: 10.1002/pbc.20141.
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CR  - Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, et al.The paradox of Myeloid Leukemia associated with Down syndrome. Biochemical Pharmacology 2022;201:115046. doi: 10.1016/j.bcp.2022.115046.
CR  - Zipursky A, Brown EJ, Christensen H, Doyle J. Transient myeloproliferative disorder (transient leukemia) and hematologic manifestations of Down syndrome. Clin Lab Med 1999;19(1):157-67, vii. doi: 10.1016/s0272-2712(18)30133-1.
CR  - O Olatunji P. A case of acute megakaryoblastic leukaemia (FAB M7), a rare type of acute myeloid leukemia (AML), in a teenager. Mal Med J. 2018 Dec 31;30(4):298. doi: 10.4314/mmj.v30i4.15.
CR  - Sas V, Blag C, Zaharie G, Puscas E, Lisencu C, et al. Transient leukemia of Down syndrome. Critical Reviews in Clinical Laboratory Sciences. 2019 May 19;56(4):247-59. doi: 10.1080/10408363.2019.1613629.
CR  - van den Berg H, Hopman AHN, Kraakman KC, de Jong D. Spontaneous remission in congenital leukemia is not related to (Mosaic) trisomy 21: Case presentation and literature review. Pediatr Hematol Oncol 2004;21(2):135-44. doi: 10.1080/08880010490273000.
CR  - Bhatnagar N, Nizery L, Tunstall O, Vyas P, Roberts I. Transient abnormal myelopoiesis and AML in Down Syndrome: an Update. Curr Hematol Malig Rep 2016;11(5):333-41.  doi: 10.1007/s11899-016-0338-x.
UR  - https://dergipark.org.tr/tr/pub/nigdetip/article/1471330
L1  - https://dergipark.org.tr/tr/download/article-file/3875483
ER  -