Vojcek Ágnes, Pajor László
Gyermekgyógyászati Klinika, PTE Klinikai Központ, Pécs, Hungary.
Patológiai Intézet, PTE Klinikai Központ, Pécs, Hungary.
Magy Onkol. 2018 Dec 12;62(4):214-221. Epub 2018 Oct 30.
Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in children. In Hungary 60-70 new cases are diagnosed annually. The survival rate is 85-90% in developed countries with current treatment protocols. The most common genetic category of childhood ALL is the high hyperdiploid subtype (HHD) with chromosome numbers of 51 to 67. It accounts for approximately 25% of all cases. The prognosis is very good, though relapse occurs in ~15% of cases and there are data on the heterogeneity of this subgroup as well. In this paper we give an overview of the cytogenetic, clinical, epidemiological and prognostic features of this subgroup. We also demonstrate our interphase fluorescent in situ hybridization (iFISH) analysis performed retrospectively on 168 untreated bone marrow samples of precursor B pediatric ALL patients to reveal the numerical aberrations of chromosomes 4, 6, 10, 14, 17, 18, 21 and X, which are most frequently affected by gain in HHD ALL. Data from 48 high hyperdiploid patients indicated that high modal number (>55 chromosomes) and specific chromosomal gains (+4, +4/+6, +4/+17, +4/+18) exhibited significance in terms of beneficial overall survival.
急性淋巴细胞白血病(ALL)是儿童中最常见的恶性肿瘤。在匈牙利,每年有60 - 70例新病例被确诊。按照目前的治疗方案,发达国家的生存率为85% - 90%。儿童ALL最常见的基因类别是高超二倍体亚型(HHD),染色体数为51至67条。它约占所有病例的25%。预后非常好,不过约15%的病例会复发,而且关于该亚组的异质性也有相关数据。在本文中,我们概述了该亚组的细胞遗传学、临床、流行病学和预后特征。我们还展示了对168例未经治疗的前体B型小儿ALL患者骨髓样本进行回顾性分析的间期荧光原位杂交(iFISH)结果,以揭示4号、6号、10号、14号、17号、18号、21号染色体和X染色体的数目畸变,这些染色体在HHD ALL中最常出现增加情况。48例高超二倍体患者的数据表明,高众数染色体数(>55条染色体)和特定染色体增加(+4、+4/+6、+4/+17、+4/+18)在总体生存获益方面具有显著意义。