Acquired isochromosome 12p, somatic TP53 and PTEN mutations, and a germline ATM variant in an adolescent male with concurrent acute megakaryoblastic leukemia and mediastinal germ cell tumor.
第一作者:
Benjamin R,Oshrine
第一单位:
Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: oshrineb@email.chop.edu.
作者:
医学主题词
青少年(Adolescent);染色体, 人, 12对(Chromosomes, Human, Pair 12);生殖细胞系突变(Germ-Line Mutation);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);等臂染色体(Isochromosomes);核型分析(Karyotyping);白血病, 原始巨核细胞, 急性(Leukemia, Megakaryoblastic, Acute);男(雄)性(Male);突变(Mutation);肿瘤, 生殖细胞和胚胎性(Neoplasms, Germ Cell and Embryonal);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);PTEN磷酸水解酶(PTEN Phosphohydrolase);多态性, 单核苷酸(Polymorphism, Single Nucleotide);睾丸肿瘤(Testicular Neoplasms);肿瘤抑制蛋白质p53(Tumor Suppressor Protein p53)
DOI
10.1016/j.cancergen.2014.03.009
PMID
24831771
发布时间
2016-11-25
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Cancer genetics
153-9页
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