Intramuscular Myoepithelioma-Like Hyalinizing Epithelioid Tumor With OGT::FOXO3 Intraexonic DNA Fusion Confirmed by Nanopore Sequencing [0.03%]
经纳米孔测序确认的OGT::FOXO3基因内含子融合的肌内透明细胞黏液表皮样瘤样的肌上皮瘤
Naoki Takeda,Naohiro Makise,Hajime Kageyama et al.
Naoki Takeda et al.
Myoepithelioma-like hyalinizing epithelioid tumor (MHET) is a rare mesenchymal neoplasm characterized by rearrangements of the OGT gene. MHET typically presents as a small tumor in the subcutis and generally follows a benign clinical course...
TP53 Amplification, a Rare but Recurrent Alteration in Myeloid Neoplasms [0.03%]
髓系肿瘤中罕见但反复出现的TP53扩增现象
Anna Stengel,Manja Meggendorfer,Torsten Haferlach et al.
Anna Stengel et al.
The tumor suppressor gene TP53 is a key regulator of genomic stability, frequently altered across human cancers. In hematologic malignancies, TP53 lesions-typically mutations, deletions, and copy-neutral loss of heterozygosity-are associate...
Mayu Uemura,Anna Fong Na Goh,Amit Kumar et al.
Mayu Uemura et al.
Biphenotypic sinonasal sarcoma (BSNS) is a rare, low-grade spindle cell sarcoma of the sinonasal tract. It is characterized by dual neural and myogenic differentiation and classically shows fusions involving PAX3. MAML3, a co-activator in t...
An Affordable and Efficient In-House Approach for Detecting Gene Fusions in Bone and Soft Tissue Tumors Using a Custom Capture Panel and Nanopore Sequencing [0.03%]
一种针对骨和软组织肿瘤使用定制捕获面板和纳米孔测序检测基因融合的经济高效的内部方法
Yoji Kukita,Ken-Ichi Yoshida,Satoshi Takenaka et al.
Yoji Kukita et al.
Accurate detection of gene fusions is critical for the diagnosis of bone and soft tissue tumors, yet conventional gene panel testing remains costly and impractical when processing small sample numbers. Here, we present a cost-effective and ...
PKMYT1 in Cancer: Beyond Cell Cycle Checkpoints to Context-Dependent Therapeutic Vulnerability [0.03%]
PKMYT1在癌症中的作用：从细胞周期检查点到基于肿瘤背景的治疗弱点
Lingxi Li,Binfan He,Mengmeng Hao et al.
Lingxi Li et al.
PKMYT1 has emerged as a promising therapeutic target distinguished by its tumor-selective expression and essential role in replication stress management. Unlike WEE1, PKMYT1 is dispensable in normal cell cycles but critical for cancer cells...
Associations of Dietary Intake Traits and Aging Indicators With Colorectal Cancer: A Mendelian Randomization Study [0.03%]
饮食摄入特征、衰老指标与结直肠癌的关联：孟德尔随机化研究
Yuanlong Chi,Bao Lin,Shijie Sun et al.
Yuanlong Chi et al.
Colorectal cancer (CRC) is a major global health burden with an increasing incidence among younger adults. High-glycemic food intake and biological aging have been proposed as potential risk factors for CRC, but their causal relationships a...
Primary Tumor-Associated Loss of the Y Chromosome and Clinical Outcome in Metastatic Colorectal Cancer [0.03%]
转移性结直肠癌患者原发肿瘤Y染色体丢失的临床预后价值研究
Anaëlle Isnard,Marie Decraecker,Benjamin Fernandez et al.
Anaëlle Isnard et al.
Background: Alterations of the Y chromosome are frequent events in solid tumors, yet their biological and clinical significance remains incompletely understood. In colorectal cancer (CRC), recent studies have suggested co...
Cytogenetic and Molecular Analysis of a "Double-Hit" RUNX1 Including a RUNX1 p.Trp279* and a Cryptic Novel t(6;21)(q25;q22)/RUNX1::ARID1B in Acute Myeloid Leukemia [0.03%]
急性髓系白血病中RUNX1“双重打击”包括RUNX1 p.Trp279*和RUNX1::ARID1B的隐匿性新型t(6;21)(q25;q22)的细胞遗传学和分子分析
Rolando García,Jing Xu,Lan Yu et al.
Rolando García et al.
Introduction: Alterations involving RUNX1 are recurrent in hematologic malignancies and contribute to disease pathogenesis via dysregulation of transcriptional factors essential for hematopoiesis. Here, we report an acqui...
Martin Fischer
Martin Fischer
Detecting Rare ALK Gene Fusions in Unclassified Spindle Cell Lung Tumors Using Anchored Multiplex PCR/Targeted RNA Next-Generation Sequencing [0.03%]
采用锚定多重PCR/靶向RNA下一代测序技术检测未分类肺梭形细胞肿瘤中的罕见ALK基因融合
Katsuhiro Masago,Katsutoshi Seto,Eiichi Sasaki et al.
Katsuhiro Masago et al.
Pulmonary spindle cell tumors are aggressive neoplasms with limited systemic treatment options, although a subset may harbor actionable genomic alterations. Because conventional fusion assays may miss rearrangements involving atypical or pr...