Transient Myeloproliferative Disease in a Newborn with Down Syndrome: Case Report

Yıl 2024, Sayı: 2, 76 - 80, 30.09.2024

Methiye Doğan , Emine Özdemir , Tuğçe Akkuş , Nuriye Tarakçı , Hüseyin Tokgöz , Hüseyin Altunhan

Öz

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.

Anahtar Kelimeler

Down syndrome, Leukemia, Newborn, GATA1 mutation

Down Sendromlu Bir Yenidoğanda Geçici Miyeloproliferatif Hastalık: Olgu Sunumu

Öz

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.

Anahtar Kelimeler

Down sendromu, Lösemi, Yenidoğan, GATA1 mutasyonu

Kaynakça

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