Nanopore DNA Sequencing Detected Chromothripsis-Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma [0.03%]
纳米孔DNA测序检测到染色体碎裂引起的PAFAH1B1::USP6易位在最初被诊断为骨肉瘤的骨囊肿中
Naohiro Makise,Jason Lin,Hajime Kageyama et al.
Naohiro Makise et al.
An aneurysmal bone cyst (ABC) is a benign bone neoplasm that typically occurs during the first and second decades of life. ABC usually presents as a rapidly growing intramedullary expansile mass with multiple blood-filled cysts in the metap...
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion [0.03%]
儿童红系肉瘤的诊断通过NFIA::CBFA2T3融合基因的确诊得以确认
Obianuju Mercy Anelo,Jing Ma,Jennifer L Neary et al.
Obianuju Mercy Anelo et al.
Erythroid sarcoma (ES) is exceedingly rare in the pediatric population with only a handful of reports of de novo cases, mostly occurring in the central nervous system (CNS) or orbit. It is clinically and pathologically challenging and can m...
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma [0.03%]
复发性尿道腺癌中罕见的EIF3E::RSPO2融合基因鉴定
Prerana Jha,Ruma Pengal,Minit Shah et al.
Prerana Jha et al.
Introduction: Urachal cancer (UC) is a rare genitourinary malignancy arising from the urachus, an embryonic remnant of the placental allantois. Its diagnosis remains ambiguous with late-stage cancer detection and represen...
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor [0.03%]
具有SOX10::PLAG1融合基因的钙化梭形细胞软组织肿瘤一例报告：一种形态学独特的潜在新型软组织肿瘤
Kemal Kosemehmetoglu,Elaheh Mosaieby,Petr Šteiner et al.
Kemal Kosemehmetoglu et al.
The widespread use of advanced molecular techniques has led to the identification of several tumor types with PLAG1 gene fusions some of which also affect the skin and soft tissues. Herein, we present a 38-year-old female with a subcutaneou...
A challenging case of aggressive composite hemangioendothelioma with neuroendocrine differentiation and PTBP1::MAML2 fusion [0.03%]
一例具有神经内分泌分化和PTBP1::MAML2融合的侵袭性复合型血管内皮细胞瘤挑战性病例
Christophe Bontoux,Anna Vigier,Thibaud Valentin et al.
Christophe Bontoux et al.
Related mechanisms, current treatments, and new perspectives in meningioma [0.03%]
脑膜瘤的有关机制、当前疗法及新视角
Gizem Inetas-Yengin,Omer Faruk Bayrak
Gizem Inetas-Yengin
Meningiomas are non-glial tumors that are the most common primary brain tumors in adults. Although meningioma can possibly be cured with surgical excision, variations in atypical/anaplastic meningioma have a high recurrence rate and a poor ...
Single-nucleotide polymorphism array and fluorescence in situ hybridization analysis to decode the cytogenetic profile of atypical partial hydatidiform moles diagnosed by short tandem repeat polymorphism analysis [0.03%]
应用单核苷酸多态性芯片和荧光原位杂交技术解码短串联重复序列多态性分析诊断的不典型部分水泡状胎块细胞遗传学谱系
Yoshiya Suzuki,Hirokazu Usui,Eri Katayama et al.
Yoshiya Suzuki et al.
Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses i...
Anna Kuntze,R R Meliß,L Ermert et al.
Anna Kuntze et al.
Superficial fibromas are a group of mesenchymal spindle cell lesions with pathomorphological heterogeneity and diverse molecular backgrounds. In part, they may be indicators of an underlying syndrome. Among the best-known entities of superf...
Uncovering the WWTR1::NCOA2 Gene fusion in low-grade myoepithelial-rich neoplasm with HMGA2 expression: A case report [0.03%]
低级别肌上皮丰富性肿瘤伴HMGA2表达的WWTR1::NCOA2基因融合的病例报告
Ziyad Alsugair,Daniel Pissaloux,Françoise Descotes et al.
Ziyad Alsugair et al.
We describe a case of a pleomorphic adenoma (PA) arising from the para-tracheal accessory salivary gland in a 44-year-old male harboring a novel WWTR1::NCOA2 gene fusion. To our knowledge, this novel gene fusion has not been described previ...
Exploration of poly (ADP-ribose) polymerase inhibitor resistance in the treatment of BRCA1/2-mutated cancer [0.03%]
BRCA1/2突变癌症治疗中聚(ADP-核糖)聚合酶抑制剂耐药性的研究
Shuyi Wu,Xuanjie Yao,Weiwei Sun et al.
Shuyi Wu et al.
Breast cancer susceptibility 1/2 (BRCA1/2) genes play a crucial role in DNA damage repair, yet mutations in these genes increase the susceptibility to tumorigenesis. Exploiting the synthetic lethality mechanism between BRCA1/2 mutations and...