Chromosome 17/17q gain and unaltered profiles in high resolution array-CGH are prognostically informative in neuroblastoma [0.03%]
神经母细胞瘤中17号染色体和17q的获得以及高分辨率阵列-CGH的不变模式具有预后价值
Jessica Theissen,Andre Oberthuer,Anja Hombach et al.
Jessica Theissen et al.
The prognostic relevance of chromosome 17 gain in neuroblastoma is still discussed. This investigation specifies the frequency, type, size, and transcriptional relevance in a large patient cohort. Primary tumor material of 202 patients was ...
14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma [0.03%]
染色体14q缺失与慢性淋巴细胞白血病及小淋巴细胞性淋巴瘤中的染色体三体性12、NOTCH1基因突变和IGHV未突变相关
Adrien Cosson,Elise Chapiro,Nabila Belhouachi et al.
Adrien Cosson et al.
Deletions of the long arm of chromosome 14 [del(14q)] are rare but recurrently observed in mature B-cell neoplasms, particularly in chronic lymphocytic leukemia (CLL). To further characterize this aberration, we studied 81 cases with del(14...
High prevalence of immunoglobulin light chain gene aberrations as revealed by FISH in multiple myeloma and MGUS [0.03%]
多重骨髓瘤和MGUS中免疫球蛋白轻链基因异常的高发生率（FISH检测）
Seval Türkmen,Anastasia Binder,Antje Gerlach et al.
Seval Türkmen et al.
Multiple myeloma (MM) is a malignant B-cell neoplasm characterized by an uncontrolled proliferation of aberrant plasma cells in the bone marrow. Chromosome aberrations in MM are complex and represent a hallmark of the disease, involving man...
Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer [0.03%]
源于减数分裂的8号染色体三体型嵌合体：儿童肿瘤中一种罕见的非整倍体原因
Anders Valind,Niklas Pal,Jurate Asmundsson et al.
Anders Valind et al.
Whether chromosome abnormalities observed in tumor cells may in some cases reflect low-grade somatic mosaicism for anomalies present already at zygote formation, rather than acquired somatic mutations, has for long remained a speculation. W...
Case Reports
Genes, chromosomes & cancer. 2014 Jul;53(7):634-8. DOI:10.1002/gcc.22173 2014
Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged Ewing sarcomas: further evidence toward distinct pathologic entities [0.03%]
与EWSR1重排的尤因肉瘤相比，CIC-DUX4融合阳性圆形细胞肿瘤具有独特的转录特征和免疫特性：进一步证明其为不同的病理实体的证据
Katja Specht,Yun-Shao Sung,Lei Zhang et al.
Katja Specht et al.
Round cell sarcomas harboring CIC-DUX4 fusions have recently been described as highly aggressive soft tissue tumors of children and young adults. Due to partial morphologic and immunohistochemical overlap with Ewing sarcoma (ES), CIC-DUX4-p...
Relevance of telomere/telomerase system impairment in early stage chronic lymphocytic leukemia [0.03%]
端粒/端粒酶系统损伤在慢性淋巴细胞白血病早期阶段的相关性
Mirjam Hoxha,Sonia Fabris,Luca Agnelli et al.
Mirjam Hoxha et al.
Several studies have proposed telomere length and telomerase activity as prognostic factors in chronic lymphocytic leukemia (CLL), whereas information addressing the role of telomere-associated genes is limited. We measured relative telomer...
Genomic profiling reveals distinctive molecular relapse patterns in IDH1/2 wild-type glioblastoma [0.03%]
基因组分析揭示了IDH1/2野生型胶质母细胞瘤中独特的分子复发模式
Vera Riehmer,Jens Gietzelt,Ulrike Beyer et al.
Vera Riehmer et al.
Molecular changes associated with the progression of glioblastoma after standard radiochemotherapy remain poorly understood. We compared genomic profiles of 27 paired primary and recurrent IDH1/2 wild-type glioblastomas by genome-wide array...
Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma [0.03%]
COL3A1和RAB2A基因是脂肪母细胞瘤中PLAG1的新易位伴侣基因
Hideki Yoshida,Mitsuru Miyachi,Kazutaka Ouchi et al.
Hideki Yoshida et al.
Lipoblastoma is a rapidly growing, benign neoplasm in children. Surgical excision is usually curative, with a recurrence rate of about 20%. Because the histology of lipoblastoma is heterogeneous and overlaps with other lipomatous tumors, so...
Genetic variation in UGT genes modify the associations of NSAIDs with risk of colorectal cancer: colon cancer family registry [0.03%]
UGT基因的遗传多态性修饰NSAIDS与结直肠癌风险的关系：来自结肠癌家系队列的证据
Dominique Scherer,Lisel M Koepl,Elizabeth M Poole et al.
Dominique Scherer et al.
The use of non-steroidal anti-inflammatory drugs (NSAIDs) is associated with reduced risk of colorectal neoplasia. Previous studies have reported that polymorphisms in NSAID-metabolizing enzymes central to NSAID metabolism including UDP-glu...
Genome-wide DNA methylation analysis of formalin-fixed paraffin embedded colorectal cancer tissue [0.03%]
石蜡包埋结直肠癌组织的基因组DNA甲基化分析
Troy D Dumenil,Leesa F Wockner,Mark Bettington et al.
Troy D Dumenil et al.
Formalin fixation and embedding of clinical tissue samples in paraffin is a common method for archiving biological material. These samples are often well annotated and provide an invaluable resource for research. However, this process of fi...