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Akut miyeloblastik lösemili olguda trizomi 8, trizomi 9 ve trizomi 21 sitogenetik bulgularının birlikteliği

Coexistence of cytogenetic findings of trisomy 8, trisomy 9 and trisomy 21 in a case with acute myeloblastic leukemia

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2010

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Abstract (2. Language): 
The importance of genetic studies is great in the diagnosis and planning of the treatment of acute myeloblastic leukemia. Risk analysis should absolutely be performed according to the findings of genetic studies at the stage of diagnosis. Examination of the peripheral blood smear demonstrated 90% blast in a 49-year-old male patient investigated because of leukocytosis, thrombocytopenia and anemia. Results of the flow cytometric analysis were CD13 85.0%, CD33 35.1%, CD34 85.0%, CD117 87.7%, myeloperoxidase 22.8%, HLA-DR 89.0%, CD3 6.6%, CD15 2.2% and CD19 1.0%. The diagnosis of the patient was “Acute myeloid leukemia without differentiation (M0)” according to the French-American-British (FAB) classification. Genetic tests revealed the coexistence of trisomy 8, trisomy 9 and trisomy 21. The ultimate diagnosis of the patient was “Acute myeloid leukemia with myelodysplasia-related changes” according to the World Health Organization (WHO) classification published in 2008. The coexistence of the trisomy 8, trisomy 9 and trisomy 21 in our patient has not been published before, and the presence of complex karyotypic abnormality made the clinical course of the disease poorer. The response to chemotherapy was poor in our patient and he expired two months after the initial diagnosis. As a conclusion, presence of the genetic abnormalities is very important in the diagnosis of acute leukemia, and determines the appropriate treatment on the basis of risk group.
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Abstract (Original Language): 
Akut miyeloblastik lösemi tanısında ve tedavisinin planlamasında genetik çalışmaların önemi çok büyüktür. Tanı aşamasında genetik bulgulara göre mutlaka risk değerlendirmesi yapılmalıdır. Kırk dokuz yaşında erkek hastada lökositoz, trombositopeni ve anemi nedeni ile yapılan incelemelerde periferik yaymada %90 blast gözlendi. Akım sitometri incelemesinde CD13 %85.0, CD33 %35.1, CD34 %85.0, CD117 %87.7, miyeloperoksidaz %22.8, HLADR %89.0, CD3 %6.6, CD15 %2.2 ve CD19 %1.0 olarak tespit edildi. Olgunun tanısı “French-American-British” (FAB) sınıflamasına göre “Farklılaş- mamış Akut Miyeloblastik Lösemi (M0)” ile uyumlu bulundu. Genetik incelemede trizomi 8, trizomi 9 ve trizomi 21 birlikteliği saptandı. Olgunun kesin tanısı 2008 yılında yayınlanan Dünya Sağlık Örgütü sınıflamasına göre “Miyelodisplazi İlişkili Değişikliklerle Seyreden Akut Miyeloblastik Lösemi” olarak kondu. Olgumuzda gösterilen trizomi 8, trizomi 9 ve trizomi 21 birlikteliği daha önce hiç rapor edilmemiş olup, kompleks karyotipik anormallik olması nedeni ile hastalığın klinik seyrini önemli ölçüde kötüleştirmektedir. Olguda kemoterapiye cevap alınamamış ve ilk tanı evresinden iki ay sonra olgu kaybedilmiştir. Sonuç olarak, genetik anormalliklerin mevcudiyeti akut lösemili olguların tanısında önemli olup, risk grubuna göre uygun tedavilerin belirlenmesini gerektirmektedir.
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  • 4
287-289
  • Turkish

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