The GAS5 (growth arrest-specific transcript 5) gene fuses to BCL6 as a result of t(1;3)(q25;q27) in a patient with B-cell lymphoma [0.03%]
染色体异位t（1；3）（q25；q27）致GAS5基因与BCL6基因融合的滤泡性B细胞淋巴瘤病人分子生物学研究
Yuichi Nakamura,Naoki Takahashi,Emi Kakegawa et al.
Yuichi Nakamura et al.
The BCL6 gene is frequently disrupted at its 5' noncoding region by 3q27 chromosomal translocations in B-cell lymphoma. As a result of translocation, BCL6 is juxtaposed to reciprocal partners, such as the immunoglobulin (Ig) gene family. Be...
George R Wettach,Luke J Boyd,Helen J Lawce et al.
George R Wettach et al.
Hemosiderotic fibrolipomatous tumor is an extremely rare, nonencapsulated, fatty lesion with a consistent histologic appearance that was originally considered reactive in nature. To our knowledge, there are no previous reports on the cytoge...
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer [0.03%]
MSH2基因新错义突变韩国遗传性非息肉病性结直肠癌家系报告
Seo-Jin Park,Kyung-A Lee,Tae Sung Park et al.
Seo-Jin Park et al.
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer-susceptible syndrome that predisposes to the early development of colorectal cancer. Germline mutations in DNA mismatch repair genes, particularly MLH1 and MS...
Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis [0.03%]
应用多重连接探针扩增技术在家族性腺瘤性息肉病患者APC基因新型重复序列鉴定中加以验证
Lucia Pedace,Silvia Majore,Francesca Megiorni et al.
Lucia Pedace et al.
Germline mutations in the adenomatous polyposis coli (APC) gene cause familial adenomatous polyposis (FAP), an autosomal dominant disease characterized by hundreds to thousands of adenomatous polyps in the colon and rectum, with progression...
Acute promyelocytic leukemia after mitoxantrone therapy for multiple sclerosis [0.03%]
用于治疗多发性硬化症的鬼臼环氧烷后的急性早幼粒细胞白血病
Bhuvaneswari Ramkumar,Manpreet K Chadha,Maurice Barcos et al.
Bhuvaneswari Ramkumar et al.
Mitoxantrone is a DNA-topoisomerase 2 inhibitor used as a single agent for treatment of relapsing-remitting or progressive multiple sclerosis (MS). We present here two patients treated with mitoxantrone for MS who subsequently developed acu...
Spontaneous remission of myelodysplastic syndrome with monosomy 7 in a young boy [0.03%]
一名年轻男孩7号染色体单体性骨髓增生异常综合征的自发缓解
Torrey M Parker,Robert J Klaassen,Donna L Johnston
Torrey M Parker
Myelodysplastic syndrome (MDS) is a clonal hematopoietic disorder that often results in progression to acute myeloid leukemia (AML), particularly when additional genetic abnormalities are present, such as monosomy 7. Treatment options for t...
Characterization of 9p21 copy number alterations in human melanoma by fluorescence in situ hybridization [0.03%]
荧光原位杂交表征人类黑色素瘤中的9p21拷贝数变异
Zsuzsa Rákosy,Laura Vízkeleti,Szilvia Ecsedi et al.
Zsuzsa Rákosy et al.
Alteration of the CDKN2A (alias p16) tumor suppressor gene, located on 9p21, occurs frequently in familial and sporadic melanomas. Beside CDKN2A, other genes (e.g., CDKN2B, and ARF/p14(ARF), long considered distinct from CDKN2A) on this loc...
Deletions adjacent to BCR and ABL1 breakpoints occur in a substantial minority of chronic myeloid leukemia patients with masked Philadelphia rearrangements [0.03%]
相当一部分慢性髓性白血病患者在BCR和ABL1断裂点相邻处发生缺失，这些患者的费城染色体隐匿型变异
Valeria A S De Melo,Dragana Milojkovic,David Marin et al.
Valeria A S De Melo et al.
Deletions at the t(9;22) breakpoint regions, found in 15% of chronic myeloid leukemia patients (CML) with an overt Philadelphia (Ph) translocation, are associated with an adverse disease prognosis in patients receiving interferon-alpha ther...
Expression changes of CAV1 and EZH2, located on 7q31 approximately q36, are rarely related to genomic alterations in primary prostate carcinoma [0.03%]
染色体7q31约至q36位点的CAV1和EZH2表达改变与原发性前列腺癌基因组变化关系罕见
Natascha Bachmann,Juergen Haeusler,Manuel Luedeke et al.
Natascha Bachmann et al.
The chromosomal region 7q was repeatedly found to be rearranged in prostate carcinoma. It harbors several well described candidate tumor suppressor and oncogenes. We addressed two genes with opposite roles in cancer; CAV1, a putative tumor ...
Mechanisms of genesis of variant translocation in chronic myeloid leukemia are not correlated with ABL1 or BCR deletion status or response to imatinib therapy [0.03%]
费城染色体变异产生机制与ABL1或BCR基因缺失状态或伊马替尼治疗反应无关
Steven Richebourg,Virginie Eclache,Christine Perot et al.
Steven Richebourg et al.
Many published studies have indicated that various mechanisms could be involved in the genesis of variant chronic myelogeneous leukemia (CML) translocations. These are mainly one-step or two-step mechanisms, associated or not with deletions...