Review on juvenile myelomonocytic leukemia, with data on clinics, pathology, and involved genes.
青少年粒单核细胞白血病的临床、病理和相关基因资料综述。
{"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}
{"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}
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).
{"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}
Review on Breast implant-associated anaplastic large cell lymphoma with clinics and the genes involved
乳房假体相关间变性大细胞淋巴瘤临床及相关基因研究进展
{"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}
Review on TAL1 deletion in lymphoid malignancies with data on clinics.
淋巴系统恶性肿瘤中TAL1缺失的临床资料综述。
{"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}
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.
{"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}
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).
{"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}
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.
{"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}
P. Branco, P. Jimenez, J. Machado-Neto, L. V. Costa-Lotufo
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.
{"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}
{"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}
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