Hong Ming, Hao Suyang, Patel Keyur P, Kantarjian Hagop M, Garcia-Manero Guillermo, Yin C Cameron, Medeiros L Jeffrey, Lin Pei, Lu Xinyan
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA; Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, Jiangsu, China.
Department of Pathology and Laboratory Medicine, The Methodist Hospital, Houston, TX, USA.
Cancer Genet. 2016 May;209(5):205-14. doi: 10.1016/j.cancergen.2016.04.001. Epub 2016 Apr 6.
Der(5;17)(p10;q10) is a recurrent but rare aberration reported in myeloid neoplasms (MNs). We report 48 such patients including 19 acute myeloid leukemia (AML) and 29 myelodysplastic syndrome (MDS), to characterize their clinicopathological features. There were 29 men and 19 women, with a median age of 61 years (range, 18-80). 62.5% patients had therapy-related diseases (t-MNs), 70.8% had multilineage dysplasia and 83.3% showed complex karyotypes. In 39 patients tested, FLT3, NPM1, CEBPA, KIT were all wild type and NRAS, KRAS, IDH1, APC, TET2 mutations were detected in single case(s) respectively. TP53 mutations were identified in 8 of 10 cases (80%) tested. Median disease-free survival (DFS) and overall survival (OS) were 3 and 10 months, respectively and did not differ between AML or MDS cases, or between de novo versus therapy-related cases, or between the groups with or without complex karyotypes. In 19 patients who achieved complete remission after chemotherapy, and in 9 patients who underwent stem cell transplantation, the OS was better (14 and 17.5 months, P = 0.0128 and P = 0.0086, respectively). The der(5;17)(p10;q10) represents a unique molecular-cytogenetic subgroup in t-MNs and, associated with complex karyotypes. TP53 inactivation, resulting from 17p deletion coupled with TP53 mutation, likely contributes to the poor clinical outcome of these patients.
der(5;17)(p10;q10)是在髓系肿瘤（MNs）中报道的一种复发性但罕见的畸变。我们报告了48例此类患者，包括19例急性髓系白血病（AML）和29例骨髓增生异常综合征（MDS），以描述其临床病理特征。患者中男性29例，女性19例，中位年龄61岁（范围18 - 80岁）。62.5%的患者患有治疗相关疾病（t - MNs），70.8%有多系发育异常，83.3%显示复杂核型。在39例检测的患者中，FLT3、NPM1、CEBPA、KIT均为野生型，NRAS、KRAS、IDH1、APC、TET2突变分别在单例中检测到。在检测的10例病例中有8例（80%）鉴定出TP53突变。中位无病生存期（DFS）和总生存期（OS）分别为3个月和10个月，在AML或MDS病例之间、初发与治疗相关病例之间或有或无复杂核型的组之间无差异。在化疗后达到完全缓解的19例患者和接受干细胞移植的9例患者中，OS较好（分别为14个月和17.5个月，P = 0.0128和P = 0.0086）。der(5;17)(p10;q10)代表t - MNs中一个独特的分子细胞遗传学亚组，并与复杂核型相关。由17p缺失联合TP53突变导致的TP53失活可能是这些患者临床预后不良的原因。
