ESSENTIAL THROMBOCYTHEMIA: UPDATE ON PATHOGENESIS, DIAGNOSIS, AND MANAGEMENT

Abstract

Essential thrombocythemia (ET), a member of the family of myeloproliferative neoplasms (MPN), is characterized by an overproduction of platelets and usually accompanied by thrombotic or hemorrhagic symptoms. JAK2V617F mutation is present in about one-half of patients with ET. Mutations in MPL exon 10 are present in a further 4% of patients, with MPL W515L being the most common mutation. The diagnosis is made by exclusion of reactive thrombocytosis and other myeloid malignancies. Bone marrow examination reveals an increase in megakaryocyte frequency with megakaryocyte clustering and nuclear hyperlobulation in the absence of significant reticulin fibrosis and significant increase in granulopoiesis and erythropoiesis. Survival of patients with ET had been similar to population controls during the first decade of the disease. Yet, survival became significantly worse thereafter due to disease complications such as thrombosis and transformation to myelofibrosis or acute myeloid leukemia (AML). Management paradigms have changed significantly over the last 20 years. This review aims to highlight the pathogenesis, diagnosis and current management in ET.

Keywords

• Acute myeloid leukemia
• Essential thrombocythemia
• Myeloproliferative neoplasms
• Thrombosis

ESANSİYEL TROMBOSİTEMİ: PATOGENEZ, TEŞHİS VE TEDAVİNİN GÜNCELLEMESİ

Abstract

Miyeloproliferatif neoplazi (MPN) ailesinin bir üyesi olan esansiyel trombositemi (ET), trombositlerin aşırı üretimi ve sıklıkla eşlik eden trombotik veya hemorajik semptomlarla karakterize bir hastalıktır. ET tanılı hastaların yaklaşık yarısında JAK2V617F mutasyonu ve %4’ünde MPL exon 10’da mutasyonlar görülmektedir. MPL exon 10 mutasyonları içinde en sık mutasyon MPL W515L’dir. ET tanısı, reaktif trombositoz ve diğer miyeloid malignitelerin dışlanması ile konmaktadır. Kemik iliği incelemesi, anlamlı bir retikülin fibrozis ve granülopoez ve eritropoezde anlamlı bir artış olmaksızın megakaryosit kümelenmesi ve nükleer hiperlobülasyon ile karakterizedir. ET’de yaşam süresi, hastalığın ilk dekadında kontrol grubu ile benzer olmasına rağmen, sonraki dönemlerde tromboz ve miyelofibroz veya akut miyeloid lösemiye (AML) dönüşüm gibi hastalık komplikasyonları nedeniyle kısalmaktadır. ET’de tedavi algoritması, son 20 yılda önemli derecede değişiklik göstermiştir. Bu derlemenin amacı, ET tanılı olgularda patogenez, tanı yöntemleri ve güncel tedaviyi özetlemektir.

Keywords

• Akut miyeloid lösemi
• Esansiyel trombositemi
• Miyeloproliferatif neoplaziler
• Tromboz

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