Minh Chau Ta,Camille Gandon,Maxence Mancini et al.
Minh Chau Ta et al.
NR1D1-rearranged tumors are distinct mesenchymal neoplasms with epithelioid morphology and aggressive potential. This report presents an 85-year-old male with a slow-growing sternal mass identified as a pseudo-cyst, characterized by a dense...
EWSR1::SSX1 Fusion-Driven Synovial Sarcoma: A Case Presentation and Review of the Literature [0.03%]
EWSR1::SSX1融合驱动的滑膜肉瘤：病例展示与文献回顾
Jesus Vega-Gonzalez,Jose Antonio Cortés Toro,Esthefanía Latorre García et al.
Jesus Vega-Gonzalez et al.
According to the 5th edition of the WHO Classification of Soft Tissue and Bone Tumors, the diagnosis of synovial sarcoma relies on morphology, immunohistochemistry, and the detection of a specific fusion involving the SS18 gene with a membe...
Selina Glaser,Rabea Wagener,Helene Kretzmer et al.
Selina Glaser et al.
Burkitt lymphoma (BL) is an aggressive germinal center B-cell-derived malignancy. Historically, sporadic, endemic, and immunodeficiency-associated variants were distinguished, which differ in the frequency of Epstein-Barr virus (EBV) positi...
EGFR-KDD Myofibroblastic Neoplasm or Congenital Peribronchial Myofibroblastic Tumor (CPMT)? Report of a Congenital Myofibroblastic Neoplasm With Unusual Histologic Features [0.03%]
EGFR-KDD肌成纤维细胞瘤还是先天性气管旁肌成纤维细胞瘤（CPMT）？一例具有少见组织学特征的先天性肌成纤维细胞肿瘤报告
Emma Rullo,Sabina Barresi,Sabrina Rossi et al.
Emma Rullo et al.
EGFR-kinase-domain duplication (KDD) has been reported in Infantile fibrosarcoma-like myofibroblastic tumors and cellular mesoblastic nephroma. We report a pulmonary neoplasm with EGFR-(KDD) and infantile fibrosarcoma-like histologic featur...
Discovery of Cis-Regulatory Mechanisms via Non-Coding Mutations in Acute Lymphoblastic Leukemia [0.03%]
通过急性淋巴细胞白血病中的非编码突变发现顺式调控机制
Efe Aydın,Eleanor L Woodward,Gladys Telliam Dushime et al.
Efe Aydın et al.
The non-coding genome, constituting 98% of human DNA, remains largely unexplored, yet holds potential for identifying new biomarkers and therapeutic targets in acute lymphoblastic leukemia (ALL). In this study, we conducted a systematic ana...
Genome-Wide DNA Methylation and Copy Number Alterations in Gastrointestinal Stromal Tumors [0.03%]
胃肠间质瘤的全基因组DNA甲基化和拷贝数改变
Tony G Kleijn,Baptiste Ameline,Roos F Bleckman et al.
Tony G Kleijn et al.
Gastrointestinal stromal tumors (GISTs) span a broad clinical spectrum, from indolent neoplasms to life-threatening metastatic tumors. A persistent limitation of current risk stratification systems is that a subset of GISTs is graded as low...
SSX and SS18-SSX Antibodies as Additional Tools for Diagnosing Undifferentiated Neoplasms With the EWSR1::SSX3 Fusion [0.03%]
用于诊断具有EWSR1 :: SSX3融合未分化肿瘤的附加工具：SSX和SS18-SSX抗体
Isidro Machado,Antonio Llombart-Bosch,Caterina Fumagalli et al.
Isidro Machado et al.
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes [0.03%]
非吸烟肺癌患者的生殖系全外显子测序揭示了肺癌驱动基因中的致病变异体
Giovanni Carapezza,Simone Paolo Minardi,Sara Noci et al.
Giovanni Carapezza et al.
Approximately 10%-15% of all lung cancers arise in non-smokers. Although there are no established aetiological factors, non-smokers with a family history of cancer have an increased risk of lung cancer, implying host genetic factors in lung...
Chromatin Interaction and Histone Mark Signatures Associated With TBXT Expression in Metastatic Lung Cancer [0.03%]
与转移性肺癌中TBXT表达相关的染色质相互作用和组蛋白标记特征
Reuben M Yaa,Brian M Schilder,Rafael D Acemel et al.
Reuben M Yaa et al.
Background: TBXT, a member of the T-box transcription factor family, drives epithelial-to-mesenchymal transition in the metastasis of some cancers. However, the relationship between the epigenetic regulatory landscape and...
EWSR1::CREM Fusion in a Pediatric Patient With Testicular Leydig Cell Tumor [0.03%]
儿童睾丸间质细胞瘤中发现EWSR1::CREM融合基因
Megan M Lilley,Patrick R Blackburn,Larissa V Furtado et al.
Megan M Lilley et al.
Sex cord-stromal tumors are rare in pediatric patients. Leydig cell tumors are a rare subset of sex cord-stromal tumors characterized by unique molecular alterations, including TERT fusions and mutations of CTNNB1, FOXO4, TP53, NBN, MTOR, B...