A Rare Variant Translocation (t(5;9;22)(q13;q34;q11.2)) In A Case With Chronic Myeloid Leukemia

Yıl 2019, Cilt: 2 Sayı: 2, 35 - 35, 30.05.2019

Haluk Erkal Şükrü Öztürk Serap Yücel Kıvanç Çefle Gülçin Bagatır Ayşegül Bayrak Birsen Karaman Seher Basaran Demet Aydın Şükrü Palanduz

Öz

Chronic myeloid leukemia is a severe hematologic disorder with blastic transformation following a chronic phase. The specific cytogenetic findings of the disorder is t (9; 22) or Philadelphia (Ph1) chromosome. Ph1 is detected in most cases (95%). However, when a different chromosome other than 9 and 22 chromosomes are involved in translocation, the typical appearance of Ph1 chromosome does not occur and can be missed. In this case, the anomaly which is not detected in conventional cytogenetic analysis can be determined by molecular cytogenetics (FISH) analysis. In this paper we describe a unique clonal abnormality, t(5;9;22)(q13;q34;q11.2)- as a rare variant translocation in a case with chronic myeloid leukemia.

Anahtar Kelimeler

Chronic myeloid leukemia, Variant translocation, t(5;9;22)(q13;q11.2)

Kronik Miyeloid Lösemili Bir Olguda Nadir Bir Varyant Translokasyonu (t(5; 9; 22) (q13; q34; q11.2))

Öz

Kronik miyeloid lösemi, kronik bir seyri takiben akut blastik dönüşüm görülen ciddi bir hematolojik hastalıktır. Özgün sitogenetik bulgusu t(9;22) veya orijinal ismi ile Philadelphia (Ph1) kromozomudur. Olguların çoğunda Ph1 saptanır. Ancak 9 ve 22. kromozomlar dışında başka bir üçüncü kromozomun translokasyona katılması halinde sitogenetik olarak Ph1 kromozomunun tipik görünümü oluşmaz ve gözden kaçabilir. Bu durumda konvansiyonel sitogenetik analizde saptanmayan anomali moleküler sitogenetik (FISH) analizle saptanabilir. Yazıda, Kronik Miyeloid Lösemili olguda Ph1 kromozomunu baskılayan varyant t(5;9;22) (q13; q34; q11.2) klonal anomalisi tanımlanmıştır.

Anahtar Kelimeler

Kronik miyeloid lösemi, Varyant translokasyon, t(5;9;22)(q13;q11.2)

Kaynakça

• 1. http:/www.merck.com/mmpe/inhtmlde.
• 2. Naumann S, Decker HJ. Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia. Cancer Genet Cytogenet 2003;147(1):18-22.
• 3. Costa D, Carrió A, Madrigal I et al. Studies of complex Ph translocations in cases with chronic myelogenous leukemia and one with acute lymphoblastic leukemia. Cancer Genet Cytogenet 2006;166(1):89-93.
• 4. Swansbury J. Cancer Cytogenetics Methods and protocols. Humana Pres, New Jersey, 2003.
• 5. Barch MJ. 1991. Cytogenetics Laboratory Manual, second edition, New York: Raven Pres. p. 27-128.
• 6. Balatzenko G, Grudeva-Popova J, Krustev T et al. Philadelphia variant, t(5;9;22)(q13;q34;q11), in a case with chronic myeloid leukemia. J BUON 2003;8(1):65-67.
• 7. Alimena G, Hagemeijer A, Bakhuis J et al. Cytogenetic and molecular characterization of a masked Philadelphia chromosome in chronic myelocytic leukemia. Cancer Genet Cytogenet 1987;27(1):21-26.
• 8. Kanakasetty GB, Kuntejowdahalli L, Thanky AH et al. Predictive and Prognostic Implications of Variant Philadelphia Translocations in CML: Experience From a Tertiary Oncology Center in Southern India. Clin Lymphoma Myeloma Leuk 2017;17(1):52-59.
• 9. Gorusu M, Benn P, Li Z, Fang M. On the genesis and prognosis of variant translocations in chronic myeloid leukemia. Cancer Genet Cytogenet 2007;173(2):97-106.
• 10. Eyüpoğlu D, Bozkurt S, Haznedaroğlu İ et al. The impact of variant philadelphia chromosome translocations on the clinical course of chronic myeloid leukemia. Turk J Haematol 2016;33(1):60- 65.
• 11. Bakshi SR, Patel BP, Brahmbhatt MM et al. Complex karyotype with a masked Philadelphia translocation and variant BCR-ABL fusion in CML. 2009;189(2):142-143.