Cancer Genetics and Cytogenetics最新文献_第9页

NUT midline carcinoma NUT中线癌

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.06.007

Christopher Alexander French

{"title":"NUT midline carcinoma","authors":"Christopher Alexander French","doi":"10.1016/j.cancergencyto.2010.06.007","DOIUrl":"10.1016/j.cancergencyto.2010.06.007","url":null,"abstract":"<div>NUT midline carcinoma (NMC) is a rare, aggressive human cancer, genetically defined by rearrangements of the gene NUT (HUGO symbol: C15orf55). In the majority (∼75%) of NMCs, most of the coding sequence of NUT on chromosome 15q14 is fused with BRD4 creating chimeric genes that encode BRD–NUT fusion proteins. In the remaining cases, NUT is fused to BRD3 or an unknown partner gene; these tumors are termed NUT-variant. Diagnosis of NMC is made by demonstration of expression of the NUT-fusion protein using a monoclonal antibody to NUT for immunohistochemistry, and confirmation of the fusion (BRD–NUT or NUT-variant) by fluorescent in situ hybridization or reverse transcriptase–polymerase chain reaction. BRD–NUT functions to block cellular differentiation and promote uncontrolled growth of carcinoma cells. Because the reagents and expertise required to diagnose NMC are not available in most laboratories, and because of incomplete awareness of this disease, NMC is frequently undiagnosed or misdiagnosed, and its actual prevalence is unknown. NUT midline carcinoma does not arise from any specific tissue type or organ. It presents as a poorly differentiated carcinoma originating from midline locations such as the head, neck or mediastinum. Although rare, NMCs occur throughout life, and advanced local disease is frequently accompanied by distant hematogenous metastases. There still is no effective treatment for NMC, there are no guidelines, and current approaches to treatment are based on discussions among a few oncologists who each have had a single experience treating this disease.</div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Pages 16-20"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.06.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29359256","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: 90

Solid tumors associated with multiple endocrine neoplasias 多发性内分泌肿瘤相关的实体瘤

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.09.006

Madson Q. Almeida, Constantine A. Stratakis

{"title":"Solid tumors associated with multiple endocrine neoplasias","authors":"Madson Q. Almeida, Constantine A. Stratakis","doi":"10.1016/j.cancergencyto.2010.09.006","DOIUrl":"10.1016/j.cancergencyto.2010.09.006","url":null,"abstract":"<div>We present an update on molecular and clinical genetics of solid tumors associated with the various multiple endocrine neoplasias (MEN) syndromes. MEN type 1 (MEN1) describes the association of pituitary, parathyroid, and pancreatic islet cell tumors with a variety of many other lesions. MEN type 2 (MEN2) conditions represent at least four different syndromes that associate pheochromocytoma with medullary thyroid carcinoma, hyperparathyroidism, and a number of other manifestations. Other pheochromocytoma-associated syndromes include von Hippel–Lindau disease; neurofibromatosis 1; the recently defined paraganglioma syndromes type 1, 3, and 4; Carney–Stratakis syndrome; and the Carney triad. Carney–Stratakis syndrome is characterized by the association of paragangliomas and familial gastrointestinal stromal tumors. In the Carney triad, patients can manifest gastrointestinal stromal tumors, lung chondroma, paraganglioma, adrenal adenoma and pheochromocytoma, esophageal leiomyoma, and other conditions. The Carney complex is yet another form of MEN that is characterized by skin tumors and pigmented lesions, myxomas, schwannomas, and various endocrine neoplasias.</div>","PeriodicalId":55596,"journal":{"name":"Cancer Genetics and Cytogenetics","volume":"203 1","pages":"Pages 30-36"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.cancergencyto.2010.09.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29359258","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: 52

Activation of common fragile sites as a possible cause of chromosome 8 instability in colorectal cancer 结直肠癌中常见脆性位点的激活可能导致8号染色体不稳定

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.068

Lena Brueckner , Manfred Schwab , Larissa Savelyeva

引用次数: 0

Global profiling of methylation in the cancer genome 癌症基因组甲基化的全局分析

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.013

Andrew Feber

引用次数: 0

Analysis of p16 gene and protein status in malignant mixed Müllerian tumors of the uterus p16基因及蛋白在子宫混合型恶性肿瘤中的表达分析

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.062

Rosa Noguera , Nuria Santonja , Marta Piqueras , Samuel Navarro

引用次数: 0

Histone methyltransferase gene SETD2, a novel tumor suppressor gene in clear cell renal cell carcinoma 组蛋白甲基转移酶基因SETD2:透明细胞肾细胞癌中一种新的抑癌基因

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.006

Gerben Duns , Inge van Duivenbode , Jan Osinga , Harrie Hollema , Eva van den Berg-De Ruiter , Robert M.W. Hofstra , Klaas Kok

引用次数: 0

Mapping chromosome amplifications using massively parallel paired-end sequencing 利用大规模平行对端测序绘制染色体扩增图谱

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.009

Elizabeth Batty , Jessica C.M. Pole , Ina Schulte , Kevin Howe , Carlos Caldas , Paul A.W. Edwards

引用次数: 0

Gephyrin and neurexin 3 are new large common fragile site (cFS) genes frequently rearranged in different human cancers Gephyrin和neurexin 3是在不同的人类癌症中经常重排的新的大型共同脆弱位点(cFS)基因

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.069

Diana Zheglo , Lena Brueckner , Anne Blumrich , Manfred Schwab , Larissa Savelyeva

引用次数: 0

Homozygous mutations in exon 11 of c-KIT in GIST define a group of high risk patients GIST中c-KIT外显子11的纯合突变定义了一组高危患者

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.093

Silvia Calabuig-Fariñas , J.A. López-Guerrero , Samuel Navarro , A. Pellín , A. LLombart-Bosch

引用次数: 0

The silence of the genes: clinical applications of epigenetic alterations in cancer 基因的沉默:表观遗传改变在癌症中的临床应用

Cancer Genetics and Cytogenetics Pub Date : 2010-11-01 DOI: 10.1016/j.cancergencyto.2010.07.018

Manon van Engeland

引用次数: 0