Abstract
With the development of genome sequencing, the role of molecular targeted therapy in cancer is becoming increasingly important. However, genetic testing remains expensive, invasive, and time-consuming, and thus unavailable for all patients. Radiogenomics aims to correlate imaging characteristics with gene expression patterns, gene mutations, and other genome-related characteristics. Due to the noninvasive nature of medical imaging, the field of radiogenomics is rapidly developing and may serve as a substitute tool for genetic testing. In this article, we briefly summarise the current role of radiogenomics in predicting gene mutations in brain, lung, colorectal, breast, and kidney tumours.
Key Points
• The role of molecular targeted therapy in individual cancer-precision therapy is becoming increasingly important with the development of genetic testing.
• Radiogenomics may provide accurate imaging biomarkers as a substitute for genetic testing.
• While the field of radiogenomics holds great promise, there are still a number of limitations that need to be overcome.
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Abbreviations
- ALK:
-
Anaplastic lymphoma kinase
- AUC:
-
Area under curve
- BRCA:
-
Breast-cancer susceptibility gene
- CRC:
-
Colorectal cancer
- CT:
-
X-ray computed tomography
- DFS:
-
Disease-free survival
- EGFR:
-
Epidermal growth factor receptor
- GBM:
-
Glioblastoma
- IDH-1:
-
Isocitrate dehydrogenase-1
- MRI:
-
Magnetic resonance imaging
- NSCLC:
-
Non-small cell lung cancer
- OS:
-
Overall survival
- PET:
-
Positron emission tomography
- RCC:
-
Renal clear cell carcinoma
- ROC:
-
Receiver operating characteristic
- ROS1:
-
ROS proto-oncogene 1
References
Wang R, Han L, Dai W et al (2020) Cause of death for elders with colorectal cancer: a real-world data analysis. J Gastrointest Oncol 11:269–276
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 68:394–424
Cox VL, Bhosale P, Varadhachary GR et al (2017) Cancer genomics and important oncologic mutations: a contemporary guide for body imagers. Radiology 283:314–340
Lee SM, Lewanski CR, Counsell N et al (2014) Randomized trial of erlotinib plus whole-brain radiotherapy for NSCLC patients with multiple brain metastases. J Natl Cancer Inst 106:dju151
Novello S (2015) Epidermal growth factor receptor tyrosine kinase inhibitors as adjuvant therapy in completely resected non-small-cell lung cancer. J Clin Oncol 33:3985–3986
Kelly K, Altorki NK, Eberhardt WE et al (2015) Adjuvant erlotinib versus placebo in patients with stage IB-IIIA non-small-cell lung cancer (RADIANT): a randomized, double-blind, phase III trial. J Clin Oncol 33:4007–4014
Rizzo S, Petrella F, Buscarino V et al (2015) CT radiogenomic characterization of EGFR, K-RAS, and ALK mutations in non-small cell lung cancer. Eur Radiol 26:32–42
Hsu JS, Huang MS, Chen CY et al (2014) Correlation between EGFR mutation status and computed tomography features in patients with advanced pulmonary adenocarcinoma. J Thorac Imaging 29:357–363
Yamamoto S, Korn RL, Oklu R et al (2014) ALK molecular phenotype in non-small cell lung cancer: CT radiogenomic characterization. Radiology 272:568–576
Aerts HJ, Velazquez ER, Leijenaar RT et al (2014) Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach. Nat Commun 5:4006
Lambin P, Rios-Velazquez E, Leijenaar R et al (2012) Radiomics: extracting more information from medical images using advanced feature analysis. Eur J Cancer 48:441–446
Pinker K, Shitano F, Sala E et al (2018) Background, current role, and potential applications of radiogenomics. J Magn Reson Imaging 47:604–620
Gillies RJ, Kinahan PE, Hricak H (2016) Radiomics: images are more than pictures, they are data. Radiology 278:563–577
Kleesiek J, Kersjes B, Ueltzhoffer K et al (2021) Discovering digital tumor signatures-using latent code representations to manipulate and classify liver lesions. Cancers (Basel) 13:3108
Wang HJ, Lin MW, Chen YC et al (2021) A radiomics model can distinguish solitary pulmonary capillary haemangioma from lung adenocarcinoma. Interact Cardiovasc Thorac Surg. https://doi.org/10.1093/icvts/ivab271
Rathore S, Akbari H, Rozycki M et al (2018) Radiomic MRI signature reveals three distinct subtypes of glioblastoma with different clinical and molecular characteristics, offering prognostic value beyond IDH1. Sci Rep 8:5087
Sutton EJ, Dashevsky BZ, Oh JH et al (2016) Breast cancer molecular subtype classifier that incorporates MRI features. J Magn Reson Imaging 44:122–129
Moitra D, Mandal RK (2020) Prediction of non-small cell lung cancer histology by a deep ensemble of convolutional and bidirectional recurrent neural network. J Digit Imaging 33:895–902
Coroller TP, Grossmann P, Hou Y et al (2015) CT-based radiomic signature predicts distant metastasis in lung adenocarcinoma. Radiother Oncol 114:345–350
Vallieres M, Freeman CR, Skamene SR, El Naqa I (2015) A radiomics model from joint FDG-PET and MRI texture features for the prediction of lung metastases in soft-tissue sarcomas of the extremities. Phys Med Biol 60:5471–5496
Ainsworth NL, McLean MA, McIntyre DJO et al (2016) Quantitative and textural analysis of magnetization transfer and diffusion images in the early detection of brain metastases. Magn Reson Med 77:1987–1995
Ganeshan B, Miles KA, Babikir S et al (2017) CT-based texture analysis potentially provides prognostic information complementary to interim FDG-PET for patients with Hodgkin's and aggressive Non-Hodgkin's lymphomas. Eur Radiol 27:1012–1020
Groheux D, Martineau A, Teixeira L et al (2017) (18)FDG-PET/CT for predicting the outcome in ER+/HER2- breast cancer patients: comparison of clinicopathological parameters and PET image-derived indices including tumor texture analysis. Breast Cancer Res 19:3
Liu S, Liu S, Ji C et al (2017) Application of CT texture analysis in predicting histopathological characteristics of gastric cancers. Eur Radiol 27:4951–4959
Lee SJ, Zea R, Kim DH, Lubner MG, Deming DA, Pickhardt PJ (2018) CT texture features of liver parenchyma for predicting development of metastatic disease and overall survival in patients with colorectal cancer. Eur Radiol 28:1520–1528
Ostrom QT, Gittleman H, Farah P et al (2013) CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2006-2010. Neuro Oncol 15(Suppl 2):ii1-i56
Delgado-Lopez PD, Corrales-Garcia EM (2016) Survival in glioblastoma: a review on the impact of treatment modalities. Clin Transl Oncol 18:1062–1071
Prados MD, Byron SA, Tran NL et al (2015) Toward precision medicine in glioblastoma: the promise and the challenges. Neuro Oncol 17:1051–1063
Yang D, Rao G, Martinez J, Veeraraghavan A, Rao A (2015) Evaluation of tumor-derived MRI-texture features for discrimination of molecular subtypes and prediction of 12-month survival status in glioblastoma. Med Phys 42:6725–6735
Mazurowski MA, Clark K, Czarnek NM, Shamsesfandabadi P, Peters KB, Saha A (2017) Radiogenomics of lower-grade glioma: algorithmically-assessed tumor shape is associated with tumor genomic subtypes and patient outcomes in a multi-institutional study with The Cancer Genome Atlas data. J Neurooncol 133:27–35
Li Z, Wang Y, Yu J, Guo Y, Cao W (2017) Deep learning based radiomics (DLR) and its usage in noninvasive IDH1 prediction for low grade glioma. Sci Rep 7:5467
Eichinger P, Alberts E, Delbridge C et al (2017) Diffusion tensor image features predict IDH genotype in newly diagnosed WHO grade II/III gliomas. Sci Rep 7:13396
Lohmann P, Lerche C, Bauer EK et al (2018) Predicting IDH genotype in gliomas using FET PET radiomics. Sci Rep 8:13328
Bisdas S, Shen H, Thust S et al (2018) Texture analysis- and support vector machine-assisted diffusional kurtosis imaging may allow in vivo gliomas grading and IDH-mutation status prediction: a preliminary study. Sci Rep 8:6108
Kim M, Jung SY, Park JE et al (2020) Diffusion- and perfusion-weighted MRI radiomics model may predict isocitrate dehydrogenase (IDH) mutation and tumor aggressiveness in diffuse lower grade glioma. Eur Radiol 30:2142–2151
Jakola AS, Zhang YH, Skjulsvik AJ et al (2018) Quantitative texture analysis in the prediction of IDH status in low-grade gliomas. Clin Neurol Neurosurg 164:114–120
Zhou H, Vallieres M, Bai HX et al (2017) MRI features predict survival and molecular markers in diffuse lower-grade gliomas. Neuro Oncol 19:862–870
Park YW, Han K, Ahn SS et al (2018) Whole-tumor histogram and texture analyses of DTI for evaluation of IDH1-mutation and 1p/19q-codeletion status in World Health Organization grade II Gliomas. AJNR Am J Neuroradiol 39:693–698
Li Y, Liu X, Xu K et al (2018) MRI features can predict EGFR expression in lower grade gliomas: a voxel-based radiomic analysis. Eur Radiol 28:356–362
Lee J, Narang S, Martinez JJ, Rao G, Rao A (2015) Associating spatial diversity features of radiologically defined tumor habitats with epidermal growth factor receptor driver status and 12-month survival in glioblastoma: methods and preliminary investigation. J Med Imaging (Bellingham) 2:041006
Li Y, Liu X, Qian Z et al (2018) Genotype prediction of ATRX mutation in lower-grade gliomas using an MRI radiomics signature. Eur Radiol 28:2960–2968
Ren Y, Zhang X, Rui W et al (2019) Noninvasive prediction of IDH1 mutation and ATRX expression loss in low-grade gliomas using multiparametric MR radiomic features. J Magn Reson Imaging 49:808–817
Li Y, Qian Z, Xu K et al (2018) MRI features predict p53 status in lower-grade gliomas via a machine-learning approach. Neuroimage Clin 17:306–311
Siegel RL, Miller KD, Jemal A (2019) Cancer statistics, 2019. CA Cancer J Clin 69:7–34
Lindeman NI, Cagle PT, Aisner DL et al (2018) Updated molecular testing guideline for the selection of lung cancer patients for treatment with targeted tyrosine kinase inhibitors: guideline from the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. J Mol Diagn 20:129–159
Kalemkerian GP, Narula N, Kennedy EB et al (2018) Molecular testing guideline for the selection of patients with lung cancer for treatment with targeted tyrosine kinase inhibitors: American Society of Clinical Oncology Endorsement of the College of American Pathologists/International Association for the Study of Lung Cancer/Association for Molecular Pathology Clinical Practice Guideline Update. J Clin Oncol 36:911–919
Wu YL, Planchard D, Lu S et al (2019) Pan-Asian adapted Clinical Practice Guidelines for the management of patients with metastatic non-small-cell lung cancer: a CSCO-ESMO initiative endorsed by JSMO, KSMO, MOS, SSO and TOS. Ann Oncol 30:171–210
Han JY, Park K, Kim SW et al (2012) First-SIGNAL: first-line single-agent iressa versus gemcitabine and cisplatin trial in never-smokers with adenocarcinoma of the lung. J Clin Oncol 30:1122–1128
Rosell R, Carcereny E, Gervais R et al (2012) Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. Lancet Oncol 13:239–246
Solomon BJ, Mok T, Kim DW et al (2014) First-line crizotinib versus chemotherapy in ALK-positive lung cancer. N Engl J Med 371:2167–2177
Nishio M, Kim DW, Wu YL et al (2018) Crizotinib versus chemotherapy in Asian patients with ALK-positive advanced non-small cell lung cancer. Cancer Res Treat 50:691–700
Kalanjeri S, Abbasi A, Luthra M, Johnson JC (2021) Invasive modalities for the diagnosis of peripheral lung nodules. Expert Rev Respir Med. https://doi.org/10.1080/17476348.2021.1913059:1-10
Yucel S, Sayit AT, Tomak L, Celenk C (2021) Frequency of complications and risk factors associated with computed tomography guided core needle lung biopsies. Ann Saudi Med 41:78–85
Song L, Zhu Z, Mao L et al (2020) Clinical, conventional CT and radiomic feature-based machine learning models for predicting ALK rearrangement status in lung adenocarcinoma patients. Front Oncol 10:369
Tu W, Sun G, Fan L et al (2019) Radiomics signature: a potential and incremental predictor for EGFR mutation status in NSCLC patients, comparison with CT morphology. Lung Cancer 132:28–35
Wang S, Shi J, Ye Z et al (2019) Predicting EGFR mutation status in lung adenocarcinoma on computed tomography image using deep learning. Eur Respir J 53:1800986
Zhang J, Zhao X, Zhao Y et al (2020) Value of pre-therapy (18)F-FDG PET/CT radiomics in predicting EGFR mutation status in patients with non-small cell lung cancer. Eur J Nucl Med Mol Imaging 47:1137–1146
Jiang M, Zhang Y, Xu J et al (2019) Assessing EGFR gene mutation status in non-small cell lung cancer with imaging features from PET/CT. Nucl Med Commun 40:842–849
Aerts HJ, Grossmann P, Tan Y et al (2016) Defining a radiomic response phenotype: a pilot study using targeted therapy in NSCLC. Sci Rep 6:33860
Zhao W, Wu Y, Xu Y et al (2019) The potential of radiomics nomogram in non-invasively prediction of epidermal growth factor receptor mutation status and subtypes in lung adenocarcinoma. Front Oncol 9:1485
Yang X, Dong X, Wang J et al (2019) Computed tomography-based radiomics signature: a potential indicator of epidermal growth factor receptor mutation in pulmonary adenocarcinoma appearing as a subsolid nodule. Oncologist 24:e1156–e1164
Jia TY, Xiong JF, Li XY et al (2019) Identifying EGFR mutations in lung adenocarcinoma by noninvasive imaging using radiomics features and random forest modeling. Eur Radiol 29:4742–4750
Li X, Yin G, Zhang Y et al (2019) Predictive power of a radiomic signature based on (18)F-FDG PET/CT images for EGFR mutational status in NSCLC. Front Oncol 9:1062
Li Y, Lu L, Xiao M et al (2018) CT slice thickness and convolution kernel affect performance of a radiomic model for predicting EGFR status in non-small cell lung cancer: a preliminary study. Sci Rep 8:17913
Chang C, Sun X, Wang G et al (2021) A machine learning model based on PET/CT radiomics and clinical characteristics predicts ALK rearrangement status in lung adenocarcinoma. Front Oncol 11:603882
Rios Velazquez E, Parmar C, Liu Y et al (2017) Somatic mutations drive distinct imaging phenotypes in lung cancer. Cancer Res 77:3922–3930
Song Z, Liu T, Shi L et al (2021) The deep learning model combining CT image and clinicopathological information for predicting ALK fusion status and response to ALK-TKI therapy in non-small cell lung cancer patients. Eur J Nucl Med Mol Imaging 48:361–371
Lu X, Li M, Zhang H et al (2020) A novel radiomic nomogram for predicting epidermal growth factor receptor mutation in peripheral lung adenocarcinoma. Phys Med Biol 65:055012
Lv J, Zhang H, Ma J et al (2018) Comparison of CT radiogenomic and clinical characteristics between EGFR and KRAS mutations in lung adenocarcinomas. Clin Radiol 73:590 e591–590 e598
Zhou M, Leung A, Echegaray S et al (2018) Non-small cell lung cancer radiogenomics map identifies relationships between molecular and imaging phenotypes with prognostic implications. Radiology 286:307–315
Sacconi B, Anzidei M, Leonardi A et al (2017) Analysis of CT features and quantitative texture analysis in patients with lung adenocarcinoma: a correlation with EGFR mutations and survival rates. Clin Radiol 72:443–450
Kim TJ, Lee CT, Jheon SH, Park JS, Chung JH (2016) Radiologic characteristics of surgically resected non-small cell lung cancer with ALK rearrangement or EGFR mutations. Ann Thorac Surg 101:473–480
Blackhall FH, Peters S, Bubendorf L et al (2014) Prevalence and clinical outcomes for patients with ALK-positive resected stage I to III adenocarcinoma: results from the European Thoracic Oncology Platform Lungscape Project. J Clin Oncol 32:2780–2787
Solomon BJ, Kim DW, Wu YL et al (2018) Final overall survival analysis from a study comparing first-line crizotinib versus chemotherapy in ALK-mutation-positive non-small-cell lung cancer. J Clin Oncol 36:2251–2258
Ou SH, Ahn JS, De Petris L et al (2016) Alectinib in crizotinib-refractory ALK-rearranged non-small-cell lung cancer: a phase II global study. J Clin Oncol 34:661–668
Yamamoto S, Maki DD, Korn RL, Kuo MD (2012) Radiogenomic analysis of breast cancer using MRI: a preliminary study to define the landscape. AJR Am J Roentgenol 199:654–663
Gierach GL, Li H, Loud JT et al (2014) Relationships between computer-extracted mammographic texture pattern features and BRCA1/2 mutation status: a cross-sectional study. Breast Cancer Res 16:424
Tamez-Pena JG, Rodriguez-Rojas JA, Gomez-Rueda H et al (2018) Radiogenomics analysis identifies correlations of digital mammography with clinical molecular signatures in breast cancer. PLoS One 13:e0193871
Zhou J, Tan H, Bai Y et al (2019) Evaluating the HER-2 status of breast cancer using mammography radiomics features. Eur J Radiol 121:108718
Li C, Song L, Yin J (2021) Intratumoral and peritumoral radiomics based on functional parametric maps from breast DCE-MRI for prediction of HER-2 and Ki-67 status. J Magn Reson Imaging. https://doi.org/10.1002/jmri.27651
Grimm LJ, Zhang J, Mazurowski MA (2015) Computational approach to radiogenomics of breast cancer: luminal A and luminal B molecular subtypes are associated with imaging features on routine breast MRI extracted using computer vision algorithms. J Magn Reson Imaging 42:902–907
Park EK, Lee KS, Seo BK et al (2019) Machine learning approaches to radiogenomics of breast cancer using low-dose perfusion computed tomography: predicting prognostic biomarkers and molecular subtypes. Sci Rep 9:17847
Saha A, Harowicz MR, Grimm LJ et al (2018) A machine learning approach to radiogenomics of breast cancer: a study of 922 subjects and 529 DCE-MRI features. Br J Cancer 119:508–516
Li H, Zhu Y, Burnside ES et al (2016) Quantitative MRI radiomics in the prediction of molecular classifications of breast cancer subtypes in the TCGA/TCIA data set. NPJ Breast Cancer 2:16012
Mazurowski MA, Zhang J, Grimm LJ, Yoon SC, Silber JI (2014) Radiogenomic analysis of breast cancer: luminal B molecular subtype is associated with enhancement dynamics at MR imaging. Radiology 273:365–372
Holli-Helenius K, Salminen A, Rinta-Kiikka I et al (2017) MRI texture analysis in differentiating luminal A and luminal B breast cancer molecular subtypes - a feasibility study. BMC Med Imaging 17:69
Evans DG, Shenton A, Woodward E, Lalloo F, Howell A, Maher ER (2008) Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 8:155
Riedl CC, Luft N, Bernhart C et al (2015) Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density. J Clin Oncol 33:1128–1135
Pinker K, Chin J, Melsaether AN, Morris EA, Moy L (2018) Precision medicine and radiogenomics in breast cancer: new approaches toward diagnosis and treatment. Radiology 287:732–747
Piccart-Gebhart MJ, Procter M, Leyland-Jones B et al (2005) Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N Engl J Med 353:1659–1672
Cameron D, Piccart-Gebhart MJ, Gelber RD et al (2017) 11 years' follow-up of trastuzumab after adjuvant chemotherapy in HER2-positive early breast cancer: final analysis of the HERceptin Adjuvant (HERA) trial. Lancet 389:1195–1205
Curtis C (2015) Genomic profiling of breast cancers. Curr Opin Obstet Gynecol 27:34–39
Cancer Genome Atlas N (2012) Comprehensive molecular portraits of human breast tumours. Nature 490:61–70
Guiu S, Michiels S, Andre F et al (2012) Molecular subclasses of breast cancer: how do we define them? The IMPAKT 2012 Working Group Statement. Ann Oncol 23:2997–3006
Siegel RL, Miller KD, Jemal A (2020) Cancer statistics, 2020. CA Cancer J Clin 70:7–30
Guo F, Gong H, Zhao H et al (2018) Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients. Sci Rep 8:6076
Irahara N, Baba Y, Nosho K et al (2010) NRAS mutations are rare in colorectal cancer. Diagn Mol Pathol 19:157–163
Seppala TT, Bohm JP, Friman M et al (2015) Combination of microsatellite instability and BRAF mutation status for subtyping colorectal cancer. Br J Cancer 112:1966–1975
Modest DP, Ricard I, Heinemann V et al (2016) Outcome according to KRAS-, NRAS- and BRAF-mutation as well as KRAS mutation variants: pooled analysis of five randomized trials in metastatic colorectal cancer by the AIO colorectal cancer study group. Ann Oncol 27:1746–1753
Schirripa M, Cremolini C, Loupakis F et al (2015) Role of NRAS mutations as prognostic and predictive markers in metastatic colorectal cancer. Int J Cancer 136:83–90
Margonis GA, Buettner S, Andreatos N et al (2018) Association of BRAF mutations with survival and recurrence in surgically treated patients with metastatic colorectal liver cancer. JAMA Surg 153:e180996
Okuno M, Goumard C, Kopetz S et al (2018) RAS Mutation is associated with unsalvageable recurrence following hepatectomy for colorectal cancer liver metastases. Ann Surg Oncol 25:2457–2466
Strickler JH, Wu C, Bekaii-Saab T (2017) Targeting BRAF in metastatic colorectal cancer: Maximizing molecular approaches. Cancer Treat Rev 60:109–119
Sundar R, Hong DS, Kopetz S, Yap TA (2017) Targeting BRAF-mutant colorectal cancer: progress in combination strategies. Cancer Discov 7:558–560
Peeters M, Oliner KS, Price TJ et al (2015) Analysis of KRAS/NRAS mutations in a phase III study of panitumumab with FOLFIRI compared with FOLFIRI alone as second-line treatment for metastatic colorectal cancer. Clin Cancer Res 21:5469–5479
Barras D, Missiaglia E, Wirapati P et al (2017) BRAF V600E mutant colorectal cancer subtypes based on gene expression. Clin Cancer Res 23:104–115
Yang L, Dong D, Fang M et al (2018) Can CT-based radiomics signature predict KRAS/NRAS/BRAF mutations in colorectal cancer? Eur Radiol 28:2058–2067
Lubner MG, Stabo N, Lubner SJ et al (2015) CT textural analysis of hepatic metastatic colorectal cancer: pre-treatment tumor heterogeneity correlates with pathology and clinical outcomes. Abdom Imaging 40:2331–2337
Taguchi N, Oda S, Yokota Y et al (2019) CT texture analysis for the prediction of KRAS mutation status in colorectal cancer via a machine learning approach. Eur J Radiol 118:38–43
Negreros-Osuna AA, Parakh A, Corcoran RB et al (2020) Radiomics texture features in advanced colorectal cancer: correlation with BRAF mutation and 5-year overall survival. Radiol Imaging Cancer 2:e190084
Xu Y, Xu Q, Ma Y et al (2019) Characterizing MRI features of rectal cancers with different KRAS status. BMC Cancer 19:1111
Cui Y, Liu H, Ren J et al (2020) Development and validation of a MRI-based radiomics signature for prediction of KRAS mutation in rectal cancer. Eur Radiol 30:1948–1958
Oh JE, Kim MJ, Lee J et al (2020) Magnetic resonance-based texture analysis differentiating KRAS mutation status in rectal cancer. Cancer Res Treat 52:51–59
Lovinfosse P, Koopmansch B, Lambert F et al (2016) (18)F-FDG PET/CT imaging in rectal cancer: relationship with the RAS mutational status. Br J Radiol 89:20160212
Chen SW, Chiang HC, Chen WT et al (2014) Correlation between PET/CT parameters and KRAS expression in colorectal cancer. Clin Nucl Med 39:685–689
Cho A, Jo K, Hwang SH et al (2017) Correlation between KRAS mutation and (18)F-FDG uptake in stage IV colorectal cancer. Abdom Radiol (NY) 42:1621–1626
Lv Y, Wang X, Liang L, Wang L, Lu J (2019) SUVmax and metabolic tumor volume: surrogate image biomarkers of KRAS mutation status in colorectal cancer. Onco Targets Ther 12:2115–2121
Hong HS, Kim SH, Park HJ et al (2013) Correlations of dynamic contrast-enhanced magnetic resonance imaging with morphologic, angiogenic, and molecular prognostic factors in rectal cancer. Yonsei Med J 54:123–130
Horvat N, Veeraraghavan H, Pelossof RA et al (2019) Radiogenomics of rectal adenocarcinoma in the era of precision medicine: a pilot study of associations between qualitative and quantitative MRI imaging features and genetic mutations. Eur J Radiol 113:174–181
Krikelis D, Skoura E, Kotoula V et al (2014) Lack of association between KRAS mutations and 18F-FDG PET/CT in Caucasian metastatic colorectal cancer patients. Anticancer Res 34:2571–2579
Oner AO, Budak ES, Yildirim S, Aydin F, Sezer C (2017) The value of (18)FDG PET/CT parameters, hematological parameters and tumor markers in predicting KRAS oncogene mutation in colorectal cancer. Hell J Nucl Med 20:160–165
Kawada K, Toda K, Nakamoto Y et al (2015) Relationship Between 18F-FDG PET/CT Scans and KRAS Mutations in Metastatic Colorectal Cancer. J Nucl Med 56:1322–1327
Kim BJ, Kim JH, Kim HS, Zang DY (2017) Prognostic and predictive value of VHL gene alteration in renal cell carcinoma: a meta-analysis and review. Oncotarget 8:13979–13985
Kim HS, Kim JH, Jang HJ, Han B, Zang DY (2018) Clinicopathologic significance of VHL gene alteration in clear-cell renal cell carcinoma: an updated meta-analysis and review. Int J Mol Sci 19:2529
Brugarolas J (2014) Molecular genetics of clear-cell renal cell carcinoma. J Clin Oncol 32:1968–1976
Sato Y, Yoshizato T, Shiraishi Y et al (2013) Integrated molecular analysis of clear-cell renal cell carcinoma. Nat Genet 45:860–867
Wang Z, Peng S, Guo L et al (2018) Prognostic and clinicopathological value of PBRM1 expression in renal cell carcinoma. Clin Chim Acta 486:9–17
Hakimi AA, Ostrovnaya I, Reva B et al (2013) Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network. Clin Cancer Res 19:3259–3267
Chen X, Zhou Z, Hannan R et al (2018) Reliable gene mutation prediction in clear cell renal cell carcinoma through multi-classifier multi-objective radiogenomics model. Phys Med Biol 63:215008
Kocak B, Durmaz ES, Kaya OK, Kilickesmez O (2020) Machine learning-based unenhanced CT texture analysis for predicting BAP1 mutation status of clear cell renal cell carcinomas. Acta Radiol 61:856–864
Kocak B, Durmaz ES, Ates E, Ulusan MB (2019) Radiogenomics in clear cell renal cell carcinoma: machine learning-based high-dimensional quantitative CT texture analysis in predicting PBRM1 mutation status. AJR Am J Roentgenol 212:W55–W63
Li ZC, Zhai G, Zhang J et al (2019) Differentiation of clear cell and non-clear cell renal cell carcinomas by all-relevant radiomics features from multiphase CT: a VHL mutation perspective. Eur Radiol 29:3996–4007
Ghosh P, Tamboli P, Vikram R, Rao A (2015) Imaging-genomic pipeline for identifying gene mutations using three-dimensional intra-tumor heterogeneity features. J Med Imaging (Bellingham) 2:041009
Feng Z, Zhang L, Qi Z, Shen Q, Hu Z, Chen F (2020) Identifying BAP1 mutations in clear-cell renal cell carcinoma by CT radiomics: preliminary findings. Front Oncol 10:279
Zeng H, Chen L, Wang M, Luo Y, Huang Y, Ma X (2021) Integrative radiogenomics analysis for predicting molecular features and survival in clear cell renal cell carcinoma. Aging (Albany NY) 13:9960–9975
Kang J, Rancati T, Lee S et al (2018) Machine learning and radiogenomics: lessons learned and future directions. Front Oncol 8:228
Mackin D, Fave X, Zhang L et al (2015) Measuring computed tomography scanner variability of radiomics features. Invest Radiol 50:757–765
Berenguer R, Pastor-Juan MDR, Canales-Vazquez J et al (2018) Radiomics of CT features may be nonreproducible and redundant: influence of CT acquisition parameters. Radiology 288:407–415
van Velden FH, Kramer GM, Frings V et al (2016) Repeatability of radiomic features in non-small-cell lung cancer [(18)F]FDG-PET/CT studies: impact of reconstruction and delineation. Mol Imaging Biol 18:788–795
Pfaehler E, Beukinga RJ, de Jong JR et al (2019) Repeatability of (18) F-FDG PET radiomic features: a phantom study to explore sensitivity to image reconstruction settings, noise, and delineation method. Med Phys 46:665–678
Lecler A, Duron L, Balvay D et al (2019) Combining multiple magnetic resonance imaging sequences provides independent reproducible radiomics features. Sci Rep 9:2068
He L, Huang Y, Ma Z, Liang C, Liang C, Liu Z (2016) Effects of contrast-enhancement, reconstruction slice thickness and convolution kernel on the diagnostic performance of radiomics signature in solitary pulmonary nodule. Sci Rep 6:34921
Ligero M, Jordi-Ollero O, Bernatowicz K et al (2021) Minimizing acquisition-related radiomics variability by image resampling and batch effect correction to allow for large-scale data analysis. Eur Radiol 31:1460–1470
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This study has received funding by the National Natural Science Foundation of China (ID: 81670046).
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Qi, Y., Zhao, T. & Han, M. The application of radiomics in predicting gene mutations in cancer. Eur Radiol 32, 4014–4024 (2022). https://doi.org/10.1007/s00330-021-08520-6
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DOI: https://doi.org/10.1007/s00330-021-08520-6