Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma
Deletion of the long q arm of chromosome 22 (22qDEL) is the most frequently identified recurrent somatic copy number alteration observed in papillary thyroid carcinoma (PTC). Since its role in PTC is not fully understood, we conducted a pooled analysis of genomic characteristics and clinical correla...
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Bioscientifica
2025-01-01
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| Series: | European Thyroid Journal |
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| author | Olivia W Lee Danielle M Karyadi Stephen W Hartley Weyin Zhou Mitchell J Machiela Shahriar A Zamani Liudmyla Yu Zurnadzhy John N Weinstein Young Joo Park Jeong-Sun Seo Gerry A Thomas Tetiana I Bogdanova Mykola D Tronko Lindsay M Morton Stephen J Chanock |
| author_facet | Olivia W Lee Danielle M Karyadi Stephen W Hartley Weyin Zhou Mitchell J Machiela Shahriar A Zamani Liudmyla Yu Zurnadzhy John N Weinstein Young Joo Park Jeong-Sun Seo Gerry A Thomas Tetiana I Bogdanova Mykola D Tronko Lindsay M Morton Stephen J Chanock |
| author_sort | Olivia W Lee |
| collection | DOAJ |
| description | Deletion of the long q arm of chromosome 22 (22qDEL) is the most frequently identified recurrent somatic copy number alteration observed in papillary thyroid carcinoma (PTC). Since its role in PTC is not fully understood, we conducted a pooled analysis of genomic characteristics and clinical correlates in 1094 primary tumors from four published PTC genomic studies. The majority of PTC cases with 22qDEL exhibited arm-level loss of heterozygosity (86%); nearly all PTC cases with 22qDEL had losses in 22q12 and 13, which together constitute 70% of the q arm. Our analysis confirmed that 22qDEL occurs more frequently with RAS point mutations (50.4%), particularly HRAS (70.3%), compared with other PTC drivers (9.3%), supporting the conclusion that 22qDEL is unlikely to be a solitary driver of PTC but possibly an important co-factor in carcinogenesis, particularly in PTCs with RAS driver mutations. Differential RNA expression analyses revealed downregulation of most genes located on chromosome 22 in cases with 22qDEL compared to those without 22qDEL. Many differentially expressed genes are drawn from immune response and regulation pathways. These findings highlight the value of further investigations into the contributions of 22qDEL events to PTC, perhaps mediated through immune perturbations. |
| format | Article |
| id | doaj-art-5a437cb9a11541f69677af550dd52e10 |
| institution | Kabale University |
| issn | 2235-0802 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | European Thyroid Journal |
| spelling | doaj-art-5a437cb9a11541f69677af550dd52e102025-02-05T10:19:19ZengBioscientificaEuropean Thyroid Journal2235-08022025-01-0114110.1530/ETJ-24-02351Somatic copy number deletion of chromosome 22q in papillary thyroid carcinomaOlivia W Lee0Danielle M Karyadi1Stephen W Hartley2Weyin Zhou3Mitchell J Machiela4Shahriar A Zamani5Liudmyla Yu Zurnadzhy6John N Weinstein7Young Joo Park8Jeong-Sun Seo9Gerry A Thomas10Tetiana I Bogdanova11Mykola D Tronko12Lindsay M Morton13Stephen J Chanock14Laboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USALaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USALaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USACancer Genomics Research Laboratory, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USAIntegrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USARadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USALaboratory of Morphology of the Endocrine System, V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine, Kyiv, UkraineDepartment of Bioinformatics and Computational Biology, Division of Quantitative Sciences, The University of Texas MD Anderson Cancer Center, Houston, Texas, USADepartment of Internal Medicine and Genomic Medicine Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of KoreaAsian Genome Institute, Seoul National University Bundang Hospital, Gyeonggi-do, Republic of KoreaDepartment of Surgery and Cancer, Imperial College London, Charing Cross Hospital, London, United KingdomLaboratory of Morphology of the Endocrine System, V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine, Kyiv, UkraineDepartment of Fundamental and Applied Problems of Endocrinology, V.P. Komisarenko Institute of Endocrinology and Metabolism of the National Academy of Medical Sciences of Ukraine, Kyiv, UkraineRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USALaboratory of Genetic Susceptibility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USADeletion of the long q arm of chromosome 22 (22qDEL) is the most frequently identified recurrent somatic copy number alteration observed in papillary thyroid carcinoma (PTC). Since its role in PTC is not fully understood, we conducted a pooled analysis of genomic characteristics and clinical correlates in 1094 primary tumors from four published PTC genomic studies. The majority of PTC cases with 22qDEL exhibited arm-level loss of heterozygosity (86%); nearly all PTC cases with 22qDEL had losses in 22q12 and 13, which together constitute 70% of the q arm. Our analysis confirmed that 22qDEL occurs more frequently with RAS point mutations (50.4%), particularly HRAS (70.3%), compared with other PTC drivers (9.3%), supporting the conclusion that 22qDEL is unlikely to be a solitary driver of PTC but possibly an important co-factor in carcinogenesis, particularly in PTCs with RAS driver mutations. Differential RNA expression analyses revealed downregulation of most genes located on chromosome 22 in cases with 22qDEL compared to those without 22qDEL. Many differentially expressed genes are drawn from immune response and regulation pathways. These findings highlight the value of further investigations into the contributions of 22qDEL events to PTC, perhaps mediated through immune perturbations.https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0235.xmlpapillary thyroid carcinomasomatic copy number deletionchromosome 22genomic profiling |
| spellingShingle | Olivia W Lee Danielle M Karyadi Stephen W Hartley Weyin Zhou Mitchell J Machiela Shahriar A Zamani Liudmyla Yu Zurnadzhy John N Weinstein Young Joo Park Jeong-Sun Seo Gerry A Thomas Tetiana I Bogdanova Mykola D Tronko Lindsay M Morton Stephen J Chanock Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma European Thyroid Journal papillary thyroid carcinoma somatic copy number deletion chromosome 22 genomic profiling |
| title | Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| title_full | Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| title_fullStr | Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| title_full_unstemmed | Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| title_short | Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| title_sort | somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma |
| topic | papillary thyroid carcinoma somatic copy number deletion chromosome 22 genomic profiling |
| url | https://etj.bioscientifica.com/view/journals/etj/14/1/ETJ-24-0235.xml |
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