Trisomy 8 is Associated with Favorable Outcome in the Patients with Myelodysplastic Syndromes Treated with Allogeneic Hematopoietic Stem Cell Transplantation

N. Mamaev, M. Latypova, Tatiana Gindina, M. Kanunnikov, Anna A. Osipova, S. Bondarenko, Sergey S. Riumin, L. Zubarovskaya
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Abstract

Favorable prognostic significance of sole trisomy 8 and its associations with additional chromosome aberrations was confirmed in 7 adult and 3 pediatric patients with myelodysplastic syndromes treated with hematopoietic stem cell transplantation (HSCT). The group of comparison included 10 MDS patients with sole monosomy 7 or 5 chromosome and those within complex karyotypes (CK). Cytogenetic investigations were carried out according to standard GTG and multi-colored fluorescence in situ hybridization (mFISH) techniques. Our data revealed significant difference in overall survival (OS) between the tested and control groups (p=0.045) thus being additional argument reinforcing the concept of favorable prognosis of trisomy 8 in HSCT-treated MDS patients. Eight of ten patients (5 with sole trisomy 8 and three with more complex karyotypes) are alive. Of the deceased patients, one had CK trisomy 8 was associated with poor-prognostic monosomy 7. In accordance with experimental findings Sloand et al., 2007, this favorable effect of trisomy 8 in MDS patients might be linked with inhibition of programmed cell death with anti-apoptotic proteins, including myc, which are activated in these cases and needs additional in-depth studies.
8三体与异基因造血干细胞移植治疗骨髓增生异常综合征患者的良好预后相关
在接受造血干细胞移植(HSCT)治疗的7名成人和3名儿童骨髓增生异常综合征患者中,证实了单纯8号三体及其与额外染色体畸变的相关性具有良好的预后意义。对照组包括10例只有7或5染色体单体的MDS患者和那些具有复杂核型(CK)的MDS患者。根据标准GTG和多色荧光原位杂交(mFISH)技术进行细胞遗传学研究。我们的数据显示,受试组和对照组的总生存率(OS)存在显著差异(p=0.045),因此,这是一个额外的论点,强化了HSCT治疗的MDS患者8三体预后良好的概念。10名患者中有8名(5名为单纯的8号三体,3名为更复杂的核型)还活着。在死亡的患者中,有一名患有CK三体性8型,预后单一性差7型。根据实验结果,Sloand等人,2007,MDS患者中8三体的这种有利作用可能与抗凋亡蛋白(包括myc)对程序性细胞死亡的抑制有关,myc在这些情况下被激活,需要进一步深入研究。
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