AI Summary & Key Takeaways
AI InsightFurther studies involving the genes affected by this karyotype and their products may lead to strategies to further increase the understanding of drug-resistant acute lymphoblastic leukemia and may represent the next frontier in the targeted therapy of those patients.
📌 3 Key Takeaways
Abstract
We report herein a very rare case of acute lymphoblastic leukemia having a chromosomal constitution of 48,XY,+X,+5,t(9;22)(q34;q11) in the bone marrow. A patient with additional chromosomes X and 5 with a Philadelphia chromosome has not been reported previously. However, no abnormal karyotype was obtained from the lymphocytes in our patient, and he did not have the characteristics of Klinefelter syndrome. He achieved a complete remission with IDA-FLAG and dasatinib therapy. The mechanism of trisomy 5 or any other chromosomal aneuploidy in the pathogenesis of leukemogenesis remains unclear. Further studies involving the genes affected by this karyotype and their products may lead to strategies to further increase the understanding of drug-resistant acute lymphoblastic leukemia and may represent the next frontier in the targeted therapy of those patients.
Özet
Bu makalede, kemik iliğinde çok nadir bir kromozom yapısı olan 48,XY,+X,+5,t(9;22)(q34;q11)’e sahip bir olgu sunulmaktadır. Ekstra kromozom 5 ve X’e ilave olarak Philadelphia kromozomunu taşıyan bir olguya literatürde rastlanmamıştır. Hastamızın lenfositlerden elde edilen karyotipi normal olarak değerlendirilmiş olup, Klinefelter Sendromu kliniği bulunmamaktaydı. IDA-FLAG tedavisi sonucunda tam remisyon sağlandı. Trizomi 5 veya diğer kromozomal anöploidilerin lökomogenez üzerindeki rolü net değildir. Karyotipte saptanmış olan bölgelerdeki genler ve ürünlerinin yapılacak çalışmalarla incelenmesi, ilaca dirençli akut lenfoblastik lösemiyi anlamamızda ve bu hastaların hedefe özgün tedavi seçeneklerinde yardımcı olabilecektir.