Laursen Anne Cathrine Lund, Sandahl Julie Damgaard, Kjeldsen Eigil, Abrahamsson Jonas, Asdahl Peter, Ha Shau-Yin, Heldrup Jesper, Jahnukainen Kirsi, Jónsson Ólafur G, Lausen Birgitte, Palle Josefine, Zeller Bernward, Forestier Erik, Hasle Henrik
Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
Cancer Cytogenetics Laboratory, Department of Hematology, Aarhus University Hospital, Aarhus, Denmark.
Genes Chromosomes Cancer. 2016 Sep;55(9):719-26. doi: 10.1002/gcc.22373. Epub 2016 Jun 23.
Trisomy 8 (+8) is a common cytogenetic aberration in acute myeloid leukemia (AML); however, the impact of +8 in pediatric AML is largely unknown. We retrospectively investigated 609 patients from the NOPHO-AML database to determine the clinical and cytogenetic characteristics of +8 in pediatric AML and to investigate its prognostic impact. Complete cytogenetic data were available in 596 patients (98%) aged 0-18 years, diagnosed from 1993 to 2012, and treated according to the NOPHO-AML 1993 and 2004 protocols in the Nordic countries and Hong Kong. We identified 86 patients (14%) with +8. Trisomy 8 was combined with other cytogenetic aberrations in 68 patients (11%) (+8 other) and in 18 patients (3%), it was the sole abnormality (+8 alone). Trisomy 8 was associated with FAB M5 (36%) but otherwise clinically comparable with non-trisomy 8 patients. Trisomy 8 was favorable in patients of young age and with t(9;11). Trisomy 8 alone was associated with older age (median age 10.1 years), FAB M2 (33%), and FLT3-ITD mutations (58%). The 5-year event-free survival for patients with +8 alone was 50% and 5-year overall survival was 75%. In conclusion, +8 is one of the most common cytogenetic aberrations in pediatric AML. Trisomy 8 positive AML is a heterogeneous group and the majority of cases have additional cytogenetic aberrations. Patients with +8 alone differed from patients with +8 other and were associated with older age, FAB M2, and FLT3-ITD aberrations. There were no differences in survival despite the more frequent occurrence of FLT3-ITD in +8 alone. © 2016 Wiley Periodicals, Inc.
8号染色体三体(+8)是急性髓系白血病(AML)中常见的细胞遗传学异常;然而,+8在儿童AML中的影响在很大程度上尚不清楚。我们回顾性研究了来自NOPHO-AML数据库的609例患者,以确定儿童AML中+8的临床和细胞遗传学特征,并研究其预后影响。1993年至2012年期间诊断的596例(98%)0至18岁患者可获得完整的细胞遗传学数据,这些患者在北欧国家和香港按照NOPHO-AML 1993和2004方案进行治疗。我们确定了86例(14%)有+8的患者。68例(11%)患者中8号染色体三体与其他细胞遗传学异常合并存在(+8其他),18例(3%)患者中它是唯一异常(单独+8)。8号染色体三体与FAB M5相关(36%),但在其他方面与非8号染色体三体患者在临床上具有可比性。8号染色体三体在年轻患者和有t(9;11)的患者中预后较好。单独的8号染色体三体与年龄较大(中位年龄10.1岁)、FAB M2(33%)和FLT3-ITD突变(58%)相关。单独+8患者的5年无事件生存率为50%,5年总生存率为75%。总之,+8是儿童AML中最常见的细胞遗传学异常之一。8号染色体三体阳性AML是一个异质性群体,大多数病例有额外的细胞遗传学异常。单独+8的患者与+8其他的患者不同,且与年龄较大、FAB M2和FLT3-ITD异常相关。尽管单独+8中FLT3-ITD的发生率更高,但生存率并无差异。© 2016威利期刊公司