Akut Miyeloid Lösemi’li Olgularda inv(3)/t(3;3) ile 7.Kromozomun Anomalilerinin Prognoza Etkisi

Abstract

Akut Miyeloid Lösemi (AML), neoplastik klonal miyeloid kök hücrelerin aşırı üretimiyle karakterize bir kök hücre hastalığıdır. Etyolojisindeki en önemli etkenler kromozom anomalileri veya izole gen mutasyonları yoluyla oluşan genetik bozukluklardır. Dünya Sağlık Örgütü’nün (DSÖ) sınıflandırmasına göre, AML’de görülen genetik anomalilerin tanımlanması, hastalığın risk sınıflandırmasında ve tedavi seçeneklerinin belirlenmesinde önemli bir rol oynar. DSÖ’nün sınıflandırmasında yer alan inv(3)(q21q26.2)/t(3;3)(q21;q26.2), AML’li olguların %1-2’sinde görülür. Ayrıca, de novo yada tedavi sonrası Miyelodisplastik Sendrom’dan (MDS) ya da blast kriz Kronik Miyeloid Lösemi’den (KML) AML’ye dönüşüm gösteren olgularda da görülen bir anomalidir. De novo gelişen inv(3)/t(3;3), kemoterapiye yanıt vermeyen, prognozu kötü olan agresif bir lösemi formuna neden olur ve 5 yıllık yaşam süresi %10’dan azdır. İnv(3)/t(3;3) anomalisine sıklıkla monozomi 7 ya da del(7q) eşlik eder. Sekonder anomali olarak monozomi 7/del(7q)’nun varlığı; prognozu daha da kötüleştiren bir bulgudur. Bu anomaliye sahip olgularda kemoterapiye direnç sebebiyle en uygun tedavi seçeneğinin allojenik kemik iliği transplantasyonu (Allo-KİT) olduğu bildirilmiştir. Bu çalışmada, 734 AML ön tanı/tanılı olgu (KML ya da MDS’den transforme AML dahil) arasından inv(3)/t(3;3) ve 7.kromozomun anomalilerinin birlikte saptandığı olgular tartışılmıştır. Sonuç olarak bu anomalilerinin birlikte saptandığı durumlarda Allo-KİT hastayı yaşama bağlayan tek tedavi seçeneği olabilir.

Keywords

• Akut Miyeloid Lösemi
• inv(3)/t(3;3)
• Monozomi 7
• del(7q)
• Allojenik kemik iliği transplantasyonu

Ethical Statement

Çalışma için İstanbul Tıp Fakültesi Klinik Araştırmalar Etik Kurulu’ndan onay alındı (Karar tarih/sayı: 17.11.2023/23).

Thanks

Yazarlar, Covid-19 pandemi sürecinde vefat eden Dr. Ali Ucur'a sitogenetik analizlerdeki büyük desteğinden dolayı teşekkür ederler.

The Effect of inv(3)/t(3;3) and 7th Chromosome Abnormalities on Prognosis in Patients with Acute Myeloid Leukemia

Abstract

Acute Myeloid Leukemia (AML) is a stem cell disease characterized by the overproduction of neoplastic clonal myeloid stem cells. The most important factors in its etiology are genetic disorders caused by chromosomal abnormalities or isolated gene mutations. According to the World Health Organization (WHO) classification, the identification of genetic abnormalities in AML plays an important role in risk stratification and determination of treatment options. WHO classification inv(3)(q21q26.2)/ t(3;3)(q21;q26.2) occurs in 1-2% of AML cases. It can also be seen in patients with de novo or post-treatment transformation from Myelodysplastic Syndrome (MDS) or blast crisis Chronic Myeloid Leukemia (CML) to AML. De novo inv(3)/t(3;3) causes an aggressive form of leukemia that does not respond to chemotherapy and has a poor prognosis, with a 5-year survival of less than 10%. The inv(3)/t(3;3) abnormality is often accompanied by monosomy 7 or del(7q). The presence of monosomy 7/del(7q) as a secondary abnormality is a finding that worsens the prognosis. It has been reported that allogeneic stem cell transplantation (Allo-SCT) is the most appropriate treatment option in patients with this abnormality due to resistance to chemotherapy. In this study, among 734 cases with a prediagnosis/diagnosis of AML (including AML transformed from CML or MDS), cases in which inv(3)/t(3;3) and chromosome 7 abnormalities were detected together were discussed. As a result, in cases where these abnormalities are found together, Allo-SCT is the only treatment that expending life time of patients.

Keywords

• Acute Myeloid Leukemia
• inv(3)/t(3;3)
• Monosomy 7
• del(7q)
• Allogeneic Stem Sell Transplantation

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