Trombositozun Bir Nedeni; 5q Sendromu

Öz

Miyelodisplastik sendromlar MDS periferik kanda değişik derecelerde sitopeni, hematopoetik hücrelerde morfolojik ve fonksiyonel anormalliklerle karakterize, akut lösemiye ilerleme riski yüksek, kemik iliğinin klonal bir grup hematolojik malignitesidir. Trombositoz; trombosit sayısının 450.000/mm3 üzerinde olması olarak tanımlanır. Aşırı trombositoz ise trombosit sayısının 1.000.000/mm3olmasıdır. Miyelodisplastik sendromlar çoğunlukla sitopeni ile görülmektedir. Trombositoz, MDSʼde trombositopeniden daha az görülür. Trombositoz; 5q sendromunda, 3q21q26 sendromunda ve MDS / MPNʼde, genellikle JAK2ʼde ve ayrıca SF3B1ʼin aktive edici mutasyonları ile ilişkili halka sideroblastları ve trombositozu daha önce RARS-T olarak adlandırılır bulunan MDS / MPNʼde tarif edilmiştir. Burada aşırı trombositozun bir nedeninin de 5q sendromu olabileceğini vurgulamak üzere olgumuzu yayınlamak istedik

Anahtar Kelimeler

• Miyelodisplastik sendromlar, 5q sendrom, Trombositoz, Anemi, Displazi

A Cause of Thrombocytosis; 5q Syndrome

Abstract

Myelodysplastic syndromes MDS are hematological malignancies of bone marrow with a high risk of progression to acute leukemia and characterized by morphological and functional abnormalities in hematopoietic cells. thrombocytosis; is defined as the number of platelets above 450.000/mm3. Excessive thrombocytosis is a platelet count of 1.000.000/mm3. Myelodysplastic syndromes are mostly presented with cytopenia. Thrombocytosis is less commonly seen in MDS than thrombocytopenia. Thrombocytosis has been described in 5q- syndrome, 3q21q26 syndrome, and in MDS/MPN with ring sideroblasts and thrombocytosis previously called RARS-T which is often associated with activating mutations in JAK2 as well as SF3B1. We wanted to publish our case to emphasize that 5q syndrome may be a cause of extrem thrombocytosis

Keywords

• Myelodysplastic syndromes, 5q syndrome, Thrombocytosis, Anemia, Dysplasia

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