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Atlas of Genetics and Cytogenetics in Oncology and Haematology最新文献

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Juvenile myelomonocytic leukemia (JMML) 青少年粒单核细胞白血病
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70699
Karen M. Chisholm
{"title":"Juvenile myelomonocytic leukemia (JMML)","authors":"Karen M. Chisholm","doi":"10.4267/2042/70699","DOIUrl":"https://doi.org/10.4267/2042/70699","url":null,"abstract":"Review on juvenile myelomonocytic leukemia, with data on clinics, pathology, and involved genes.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46836732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
EEF1G/PPP6R3 (11q12-13) EEF1G / PPP6R3 (11q12-13)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70700
Luigi Cristiano
{"title":"EEF1G/PPP6R3 (11q12-13)","authors":"Luigi Cristiano","doi":"10.4267/2042/70700","DOIUrl":"https://doi.org/10.4267/2042/70700","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46722222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone and Soft Tissue: Ewing-like sarcoma 骨与软组织:翼状肉瘤
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70727
Kelly M. Bailey
{"title":"Bone and Soft Tissue: Ewing-like sarcoma","authors":"Kelly M. Bailey","doi":"10.4267/2042/70727","DOIUrl":"https://doi.org/10.4267/2042/70727","url":null,"abstract":"Ewing-like sarcoma is a recently defined subset of bone or soft tissue sarcomas. It is one of the pediatric small, round, blue cell tumors and is fusion genedriven cancer. However, the driving fusions are distinct from that of the FET-ETS family rearrangements that define Ewing sarcoma (see separate entry for Ewing sarcoma).","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41513352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Breast implant-associated anaplastic large cell lymphoma 乳房假体相关间变性大细胞淋巴瘤
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70697
Diego Conde Royo, L. Salcedo, S. Dalia
{"title":"Breast implant-associated anaplastic large cell lymphoma","authors":"Diego Conde Royo, L. Salcedo, S. Dalia","doi":"10.4267/2042/70697","DOIUrl":"https://doi.org/10.4267/2042/70697","url":null,"abstract":"Review on Breast implant-associated anaplastic large cell lymphoma with clinics and the genes involved","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45267568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TAL1 (1p32) deletion in lymphoid malignancies 淋巴系统恶性肿瘤中TAL1（1p32）缺失
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70726
L. Mitev, L. Grahlyova
{"title":"TAL1 (1p32) deletion in lymphoid malignancies","authors":"L. Mitev, L. Grahlyova","doi":"10.4267/2042/70726","DOIUrl":"https://doi.org/10.4267/2042/70726","url":null,"abstract":"Review on TAL1 deletion in lymphoid malignancies with data on clinics.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49250389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
PYGO2 (pygopus family PHD finger 2) PYGO2（pygopus家族PHD手指2）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70695
I. Esposito, A. Cassaro
{"title":"PYGO2 (pygopus family PHD finger 2)","authors":"I. Esposito, A. Cassaro","doi":"10.4267/2042/70695","DOIUrl":"https://doi.org/10.4267/2042/70695","url":null,"abstract":"PYGO2 is member of a conserved family of plant homeo domain (PHD)-containing proteins and takes part in a wide range of developmental and transcriptional processes. The most relevant role played by PYGO2 is in Wnt signaling pathway, where it is required for βcatenin/TCF-dependent transcription, even if it has showed to have a crucial role also in absence of βcatenin in tissues such as eye and testis. PYGO2 is also known as a chromatin effector because of its implication in chromatin remodelling processes through regulation of histones methylation.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48434605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FANCL (FA complementation group L) FANCL（FA互补组L）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70722
Sylvie Van Twest, A. Deans
{"title":"FANCL (FA complementation group L)","authors":"Sylvie Van Twest, A. Deans","doi":"10.4267/2042/70722","DOIUrl":"https://doi.org/10.4267/2042/70722","url":null,"abstract":"FANCL is the catalytically active component of the Fanconi anemia (FA) DNA repair pathway that maintains genomic stability by recognizing and repairing interstand cross links (ICL), and DNA damage incurred during replication. The FA pathway is comprised of 22 genes, biallelic mutations in any one of these genes causes Fanconi anemia, a cancer pre-disposition syndrome characterized by chromosomal instability and hypersensitivity to DNA crosslinking agents, such as those used in chemotherapy like mitomycin C (MMC) (Niraj, Färkkilä et al., 2019). FANCL acts within the 9 protein FA \"core complex\" (FANCA, FANCG, FAAP20 (AG20), FANCC, FANCE, FANCF (CEF), FANCB, FANCL, FAAP100 (BL100) that forms in response to DNA damage. Together with E2 conjugating enzyme Ube2t (FANCT), the E3 RING ligase FANCL monoubiquitinates FANCD2 and FANCI (ID2), this signals downstream repair processes, and is defective in 95% of all FA patients (Inc, 2014).","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47758408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Cutaneous B-Cell Lymphomas 原发性皮肤b细胞淋巴瘤
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70725
A. Al-Katib, A. Mohamed
{"title":"Primary Cutaneous B-Cell Lymphomas","authors":"A. Al-Katib, A. Mohamed","doi":"10.4267/2042/70725","DOIUrl":"https://doi.org/10.4267/2042/70725","url":null,"abstract":"Primary cutaneous B-cell lymphomas (PCBCL) are a heterogeneous group of mature B-cells neoplasms that present in the skin without evidence of nodal or systemic involvement. The clinical and pathologic features of PCBCL differ significantly from the equivalent nodal lymphomas. Three main subtypes of PCBCL are recognized by the 2016 revised WHO classification. Studies have shown that PCBCLs are characterized by distinct immunophenotypic features, chromosomal aberrations and gene rearrangements which provide further support for their classification as separate entities from their nodal types.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45190001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BIRC8 (baculoviral IAP repeat containing 8) BIRC8（含有8个IAP重复序列的杆状病毒）
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70723
P. Branco, P. Jimenez, J. Machado-Neto, L. V. Costa-Lotufo
{"title":"BIRC8 (baculoviral IAP repeat containing 8)","authors":"P. Branco, P. Jimenez, J. Machado-Neto, L. V. Costa-Lotufo","doi":"10.4267/2042/70723","DOIUrl":"https://doi.org/10.4267/2042/70723","url":null,"abstract":"BIRC8, also known as ILP-2, is a homologous protein of BIRC4, however, its function has seldom been addressed. Despite the similarity with other Inhibitory Apoptosis Proteins (IAPs), there is evidence that BIRC8 acts in a peculiar manner, by impeding apoptosis induced by BAX without directly inhibiting the activity of caspases. BIRC8 expression has been detected in testis and lymphoblastic normal cells and, furthermore, it has been reported in different cancers, including breast carcinoma, hematological neoplasms, hepatocellular carcinoma, nasopharyngeal carcinoma, and neuroblastoma. However, the specific implications of such protein for treatment and prognosis must be further evaluated. In this review, current data on RNA, DNA, protein and the association of BIRC8 in cancer are presented.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46566816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AAED1 (AhpC/TSA antioxidant enzyme domain containing 1) AAED1 (AhpC/TSA抗氧化酶结构域1)
Atlas of Genetics and Cytogenetics in Oncology and Haematology Pub Date : 2020-02-01 DOI: 10.4267/2042/70694
J. Huret
{"title":"AAED1 (AhpC/TSA antioxidant enzyme domain containing 1)","authors":"J. Huret","doi":"10.4267/2042/70694","DOIUrl":"https://doi.org/10.4267/2042/70694","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44655958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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