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Mesenchymal PLAG1 Tumor With PCMTD1-PLAG1 Fusion in an Infant: A New Type of "Plagoma".
Tomás-Velázquez A, Surrey LF, Miele E, Li MM, Alaggio R, Goitz RJ, Reyes-Múgica M, Salgado CM. Tomás-Velázquez A, et al. Am J Dermatopathol. 2022 Jan 1;44(1):54-57. doi: 10.1097/DAD.0000000000001978. Am J Dermatopathol. 2022. PMID: 34291746
Histopathologically, the neoplasm shared some features with sclerosing perineurioma, but immunohistochemically, EMA was negative, whereas GLUT1, NK1-C3, and BCOR were positive. Next-generation sequencing revealed a PCMTD1-pleomorphic adenoma gene 1 (PLAG1) fusion. PLAG1 co …
Histopathologically, the neoplasm shared some features with sclerosing perineurioma, but immunohistochemically, EMA was negative, whereas GL …
Characterization of Squamous Cell Lung Cancers from Appalachian Kentucky.
Liu J, Murali T, Yu T, Liu C, Sivakumaran TA, Moseley HNB, Zhulin IB, Weiss HL, Durbin EB, Ellingson SR, Liu J, Huang B, Hallahan BJ, Horbinski CM, Hodges K, Napier DL, Bocklage T, Mueller J, Vanderford NL, Fardo DW, Wang C, Arnold SM. Liu J, et al. Cancer Epidemiol Biomarkers Prev. 2019 Feb;28(2):348-356. doi: 10.1158/1055-9965.EPI-17-0984. Epub 2018 Oct 30. Cancer Epidemiol Biomarkers Prev. 2019. PMID: 30377206 Free PMC article.
BACKGROUND: Lung cancer is the leading cause of cancer mortality in the United States (U.S.). Squamous cell carcinoma (SQCC) represents 22.6% of all lung cancers nationally, and 26.4% in Appalachian Kentucky (AppKY), where death from lung cancer is exc …
BACKGROUND: Lung cancer is the leading cause of cancer mortality in the United States (U.S.). Squamous cell carcinoma (SQCC) r …
Longitudinal change of genetic variations in cetuximab-treated metastatic colorectal cancer.
Kim SY, Kim K, Cho SH, Chun SM, Tak E, Hong YS, Kim JE, Kim TW. Kim SY, et al. Cancer Genet. 2021 Nov;258-259:27-36. doi: 10.1016/j.cancergen.2021.06.007. Epub 2021 Jul 11. Cancer Genet. 2021. PMID: 34315006
Recurrent gene mutations and copy number alterations in cancer patients are presumably associated with resistance to targeted therapy. ...Moreover, we identified the emergent gene mutations (CDK6, EPHA3, ERCC2, MYC, PCMTD1, PIK3CA, PRIM2, RICTOR, and ZNRF3) and copy …
Recurrent gene mutations and copy number alterations in cancer patients are presumably associated with resistance to targeted therapy …
Identification of novel mutations in endometrial cancer patients by whole-exome sequencing.
Chang YS, Huang HD, Yeh KT, Chang JG. Chang YS, et al. Int J Oncol. 2017 May;50(5):1778-1784. doi: 10.3892/ijo.2017.3919. Epub 2017 Mar 20. Int J Oncol. 2017. PMID: 28339086
The aim of the present study was to identify genomic alterations in Taiwanese endometrial cancer patients. This information is vitally important in Taiwan, where endometrial cancer is the second most common gynecological cancer. ...We identified 143 non-synon …
The aim of the present study was to identify genomic alterations in Taiwanese endometrial cancer patients. This information is vitall …
Genetic Factors and Long-term Treatment-Related Neurocognitive Deficits, Anxiety, and Depression in Childhood Leukemia Survivors: An Exome-Wide Association Study.
Petrykey K, Lippé S, Sultan S, Robaey P, Drouin S, Affret-Bertout L, Beaulieu P, St-Onge P, Baedke JL, Yasui Y, Hudson MM, Laverdière C, Sinnett D, Krajinovic M. Petrykey K, et al. Cancer Epidemiol Biomarkers Prev. 2024 Feb 6;33(2):234-243. doi: 10.1158/1055-9965.EPI-23-0634. Cancer Epidemiol Biomarkers Prev. 2024. PMID: 38051303
BACKGROUND: An increased risk of neurocognitive deficits, anxiety, and depression has been reported in childhood cancer survivors. METHODS: We analyzed associations of neurocognitive deficits, as well as anxiety and depression, with common and rare genetic variants derived …
BACKGROUND: An increased risk of neurocognitive deficits, anxiety, and depression has been reported in childhood cancer survivors. ME …
Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study.
Day AC, Luben R, Khawaja AP, Low S, Hayat S, Dalzell N, Wareham NJ, Khaw KT, Foster PJ. Day AC, et al. Br J Ophthalmol. 2013 Jun;97(6):704-7. doi: 10.1136/bjophthalmol-2012-302969. Epub 2013 Mar 15. Br J Ophthalmol. 2013. PMID: 23505305 Free PMC article.
AIMS: To investigate if the single nucleotide polymorphisms rs3753841, rs1015213 and rs11024102, recently implicated in the development of acute primary angle closure or primary angle closure glaucoma, are associated with ocular biometric characteristics of British adults in the …
AIMS: To investigate if the single nucleotide polymorphisms rs3753841, rs1015213 and rs11024102, recently implicated in the development of a …
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.
Vithana EN, Khor CC, Qiao C, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LA, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CCY, Chew PTK, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DTL, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VHK, Ting SML, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VKY, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DSC, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon DN, Al-Obeidan SA, Liu J, Chau TNB, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N, Aung T. Vithana EN, et al. Nat Genet. 2012 Oct;44(10):1142-1146. doi: 10.1038/ng.2390. Epub 2012 Aug 26. Nat Genet. 2012. PMID: 22922875 Free PMC article.
We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.3310(-12)), rs3753841 in COL11A1 (per-allele OR=1.20; P=9.2210(-10)) and rs1015213 located between PCMTD1 and ST18 on chromosome 8q (per-allele OR=1.50; P=3.29 …
We report significant associations at three new loci: rs11024102 in PLEKHA7 (per-allele odds ratio (OR)=1.22; P=5.3310(-12)), rs3753841 in C …
Pediatric fibromyxoid tumor with PLAG1 fusion: An emerging entity with a novel intracranial location.
Santisukwongchote S, Thorner PS, Desudchit T, Techavichit P, Jittapiromsak N, Amornfa J, Shuangshoti S, Shuangshoti S, Teerapakpinyo C. Santisukwongchote S, et al. Neuropathology. 2022 Aug;42(4):315-322. doi: 10.1111/neup.12837. Epub 2022 Jun 20. Neuropathology. 2022. PMID: 35723650
The partner genes for these tumors have included YWHAZ, EEF1A1, ZFHX4l, CHCHD7, and PCMTD1. We report another case of this fibromyxoid tumor with a PLAG1 fusion, this time with COL3A1 as the partner gene. ...
The partner genes for these tumors have included YWHAZ, EEF1A1, ZFHX4l, CHCHD7, and PCMTD1. We report another case of this fibromyxoi …
Lipoblastomas presenting in older children and adults: analysis of 22 cases with identification of novel PLAG1 fusion partners.
Fritchie K, Wang L, Yin Z, Nakitandwe J, Hedges D, Horvai A, Mora JT, Folpe AL, Bahrami A. Fritchie K, et al. Mod Pathol. 2021 Mar;34(3):584-591. doi: 10.1038/s41379-020-00696-4. Epub 2020 Oct 23. Mod Pathol. 2021. PMID: 33097826 Free article.
Lipoblastomas are benign neoplasms of embryonal white fat that typically present in the first 3 years of life and show a lobular arrangement of maturing adipocytes with variable degrees of myxoid change. ...RNA sequencing detected eight PLAG1 fusion partners, of which two …
Lipoblastomas are benign neoplasms of embryonal white fat that typically present in the first 3 years of life and show a lobular arra …
Serum Fusion Transcripts to Assess the Risk of Hepatocellular Carcinoma and the Impact of Cancer Treatment through Machine Learning.
Yu YP, Liu S, Geller D, Luo JH. Yu YP, et al. Am J Pathol. 2024 Mar 25:S0002-9440(24)00111-1. doi: 10.1016/j.ajpath.2024.02.017. Online ahead of print. Am J Pathol. 2024. PMID: 38537933
Seven of the nine fusions were frequently detected in HCC patients: MAN2A1-FER (100%), SLC45A2-AMACR (62.3%), ZMPSTE24-ZMYM4 (62.3%), PTEN-NOLC1 (57.4%), CCNH-C5orf30 (55.7%), STAMBPL1-FAS (26.2%), and PCMTD1-SNTG1 (16.4%). Machine-learning models were constructed based on …
Seven of the nine fusions were frequently detected in HCC patients: MAN2A1-FER (100%), SLC45A2-AMACR (62.3%), ZMPSTE24-ZMYM4 (62.3%), PTEN-N …
11 results