Villafania相关文献与解析，生知库 | 链接生命科学的每一步

Palte, Rachel L; Mandal, Mihir; Sikorska, Justyna; Villafania, Artjohn B; Rickard, Meredith M; Bauer, Robert J; Buevich, Alexei V; Chai, Xiaomei; He, Jiafang; Hussain, Zahid; Koglin, Markus; MacDonald, Hannah B; Mansueto, My S; Maskos, Klaus; Methot, Joey L; Robustelli, Jaclyn; Soriano, Aileen; Tauchert, Marcel J; Tyagarajan, Sriram; Zhang, Minjia; Klein, Daniel J; Hicks, Jacqueline D; McLaren, David G; Gabelli, Sandra B; Wyss, Daniel F

WRN

发表日期：2026

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Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts

儿童和青少年未分化多形性肉瘤：与成人对应病例的全面临床病理学、基因组学和表观遗传学比较

期刊:Modern Pathology

影响因子:5.5

doi:10.1016/j.modpat.2025.100769

Saoud, Carla; Gundem, Gunes; Vanderbilt, Chad M; Wexler, Leonard H; Reed, Damon R; Tap, William; Singer, Samuel; Villafania, Liliana B; Papaemmanouil, Elli; Benhamida, Jamal; Bale, Tejus A; Antonescu, Cristina R

表观遗传

发表日期：2025

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Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation

微卫星不稳定性及错配修复缺陷定义了一类独特的肺癌亚型，其特征为吸烟暴露、肿瘤突变负荷高以及复发性体细胞MLH1失活。

期刊:Journal of Thoracic Oncology

影响因子:20.8

doi:10.1016/j.jtho.2023.10.004

Yang, Soo-Ryum; Gedvilaite, Erika; Ptashkin, Ryan; Chang, Jason; Ziegler, John; Mata, Douglas A; Villafania, Liliana B; Nafa, Khedoudja; Hechtman, Jaclyn F; Benayed, Ryma; Zehir, Ahmet; Benhamida, Jamal; Arcila, Maria E; Mandelker, Diana; Rudin, Charles M; Paik, Paul K; Drilon, Alexander; Schoenfeld, Adam J; Ladanyi, Marc

Diffuse Pleural Mesotheliomas with Genomic Near-Haploidization: A Newly Recognized Subset with Distinct Clinical, Histologic, and Molecular Features

伴有基因组近单倍化的弥漫性胸膜间皮瘤：一种具有独特临床、组织学和分子特征的新发现亚型

期刊:Clinical Cancer Research

影响因子:10.2

doi:10.1158/1078-0432.CCR-24-0085

Yang, Soo-Ryum; Jayakumaran, Gowtham; Benhamida, Jamal; Febres-Aldana, Christopher A; Fanaroff, Rachel; Chang, Jason; Gedvilaite, Erika; Villafania, Liliana B; Sauter, Jennifer L; Offin, Michael; Zauderer, Marjorie G; Ladanyi, Marc

发表日期：2024

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Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas

儿童低级别胶质瘤中复发性 TRAK1::RAF1 融合

期刊:Brain Pathology

影响因子:5.8

doi:10.1111/bpa.13185

Jamal K Benhamida, Hannah J Harmsen, Deqin Ma, Christopher M William, Bryan K Li, Liliana Villafania, Purvil Sukhadia, Kerry A Mullaney, Michael C Dewan, Efsevia Vakiani, Matthias A Karajannis, Matija Snuderl, David Zagzag, Marc Ladanyi, Marc K Rosenblum, Tejus A Bale

TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases

TRAF7突变型纤维黏液样梭形细胞肿瘤与侵袭性临床病程相关，并具有未分化肉瘤甲基化特征：3例病例的分子和临床病理学研究

期刊:American Journal of Surgical Pathology

影响因子:4.2

doi:10.1097/PAS.0000000000001997

Dermawan, Josephine K; Villafania, Liliana; Bale, Tejus; Singer, Samuel; D'Angelo, Sandra P; Tap, William D; Antonescu, Cristina R

Distinct IDH1/2-associated Methylation Profile and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma

独特的IDH1/2相关甲基化谱以及TP53和TERT突变的富集可区分去分化软骨肉瘤和常规软骨肉瘤

期刊:Cancer Research Communications

影响因子:3.3

doi:10.1158/2767-9764.CRC-22-0397

Dermawan, Josephine Kam Tai; Nafa, Khedoujia; Mohanty, Abhinita; Xu, Yingjuan; Rijo, Ivelise; Casanova, Jacklyn; Villafania, Liliana; Benhamida, Jamal; Kelly, Ciara M; Tap, William D; Boland, Patrick J; Fabbri, Nicola; Healey, John H; Ladanyi, Marc; Lu, Chao; Hameed, Meera

Pancreatoblastomas and mixed and pure acinar cell carcinomas share epigenetic signatures distinct from other neoplasms of the pancreas

胰母细胞瘤、混合型腺泡细胞癌和纯腺泡细胞癌具有与其他胰腺肿瘤不同的表观遗传特征。

期刊:Modern Pathology

影响因子:5.5

doi:10.1038/s41379-021-00989-2

Benhamida, Jamal K; Vyas, Monika; Tanaka, Atsushi; Wang, Lu; Bahrami, Armita; Ozcan, Kerem; Basturk, Olca; Villafania, Liliana; Mata, Douglas A; El Jabbour, Tony; Selenica, Pier; Roehrl, Michael H A; Weigelt, Britta; Reis-Filho, Jorge S; Scaltriti, Maurizio; Klimstra, David S

EWSR1::YY1 fusion positive peritoneal epithelioid mesothelioma harbors mesothelioma epigenetic signature: Report of 3 cases in support of an emerging entity

EWSR1::YY1融合阳性的腹膜上皮样间皮瘤具有间皮瘤表观遗传特征：3例病例报告支持一种新兴疾病实体的发现。

期刊:Genes Chromosomes & Cancer

影响因子:2.8

doi:10.1002/gcc.23074

Dermawan, Josephine K; Torrence, Dianne; Lee, Cheng-Han; Villafania, Liliana; Mullaney, Kerry A; DiNapoli, Sara; Sukhadia, Purvil; Benayed, Ryma; Borsu, Laetitia; Agaram, Narasimhan P; Nash, Garrett M; Dickson, Brendan C; Benhamida, Jamal; Antonescu, Cristina R

Malignant transformation of a polymorphous low grade neuroepithelial tumor of the young (PLNTY)

青少年多形性低级别神经上皮肿瘤（PLNTY）的恶性转化

期刊:Acta Neuropathologica

影响因子:9.3

doi:10.1007/s00401-020-02245-4

Bale, Tejus A; Sait, Sameer F; Benhamida, Jamal; Ptashkin, Ryan; Haque, Sofia; Villafania, Liliana; Sill, Martin; Sadowska, Justyna; Akhtar, Razia B; Liechty, Benjamin; Juthani, Rupa; Ladanyi, Marc; Fowkes, Mary; Karajannis, Matthias A; Rosenblum, Marc K

WRN structural flexibility showcased through fragment-based lead discovery of inhibitors

通过基于片段的抑制剂先导化合物发现，展现了WRN结构的灵活性

Undifferentiated Pleomorphic Sarcoma in Children and Young Adults: A Comprehensive Clinicopathologic, Genomic, and Epigenetic Comparison With Adult Counterparts

儿童和青少年未分化多形性肉瘤：与成人对应病例的全面临床病理学、基因组学和表观遗传学比较

Microsatellite Instability and Mismatch Repair Deficiency Define a Distinct Subset of Lung Cancers Characterized by Smoking Exposure, High Tumor Mutational Burden, and Recurrent Somatic MLH1 Inactivation

微卫星不稳定性及错配修复缺陷定义了一类独特的肺癌亚型，其特征为吸烟暴露、肿瘤突变负荷高以及复发性体细胞MLH1失活。

Diffuse Pleural Mesotheliomas with Genomic Near-Haploidization: A Newly Recognized Subset with Distinct Clinical, Histologic, and Molecular Features

伴有基因组近单倍化的弥漫性胸膜间皮瘤：一种具有独特临床、组织学和分子特征的新发现亚型

Recurrent TRAK1::RAF1 Fusions in pediatric low-grade gliomas

儿童低级别胶质瘤中复发性 TRAK1::RAF1 融合

TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases

TRAF7突变型纤维黏液样梭形细胞肿瘤与侵袭性临床病程相关，并具有未分化肉瘤甲基化特征：3例病例的分子和临床病理学研究

Distinct IDH1/2-associated Methylation Profile and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma

独特的IDH1/2相关甲基化谱以及TP53和TERT突变的富集可区分去分化软骨肉瘤和常规软骨肉瘤

Pancreatoblastomas and mixed and pure acinar cell carcinomas share epigenetic signatures distinct from other neoplasms of the pancreas

胰母细胞瘤、混合型腺泡细胞癌和纯腺泡细胞癌具有与其他胰腺肿瘤不同的表观遗传特征。

EWSR1::YY1 fusion positive peritoneal epithelioid mesothelioma harbors mesothelioma epigenetic signature: Report of 3 cases in support of an emerging entity

EWSR1::YY1融合阳性的腹膜上皮样间皮瘤具有间皮瘤表观遗传特征：3例病例报告支持一种新兴疾病实体的发现。

Malignant transformation of a polymorphous low grade neuroepithelial tumor of the young (PLNTY)

青少年多形性低级别神经上皮肿瘤（PLNTY）的恶性转化