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4. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Author

Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, and Cremers, Frans

Subjects
inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
Abstract

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Published
2024

5. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Author

Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., and Ragge, Nicola K.

Published
2024
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6. Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Author

de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., and van Genderen, Maria M.

Published
2024
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8. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

Author

D’haene, Eva, López-Soriano, Víctor, Martínez-García, Pedro Manuel, Kalayanamontri, Soraya, Rey, Alfredo Dueñas, Sousa-Ortega, Ana, Naranjo, Silvia, Van de Sompele, Stijn, Vantomme, Lies, Mahieu, Quinten, Vergult, Sarah, Neto, Ana, Gómez-Skarmeta, José Luis, Martínez-Morales, Juan Ramón, Bauwens, Miriam, Tena, Juan Jesús, and De Baere, Elfride

Published
2024
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12. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Author

Dueñas Rey, Alfredo, del Pozo Valero, Marta, Bouckaert, Manon, Wood, Katherine A, Van den Broeck, Filip, Daich Varela, Malena, Thomas, Huw B, Van Heetvelde, Mattias, De Bruyne, Marieke, Van de Sompele, Stijn, Bauwens, Miriam, Lenaerts, Hanne, Mahieu, Quinten, Josifova, Dragana, Rivolta, Carlo, O’Keefe, Raymond T, Ellingford, Jamie, Webster, Andrew R, Arno, Gavin, Ayuso, Carmen, De Zaeytijd, Julie, Leroy, Bart P, De Baere, Elfride, and Coppieters, Frauke

Published
2024
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16. Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Author

Pechhacker, Monika K Grudzinska, Jacobson, Samuel G, Drack, Arlene V, Di Scipio, Matteo, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, and Heon, Elise

Subjects
Rare Diseases, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Eye, Adolescent, Adult, Bardet-Biedl Syndrome, Chaperonins, Child, Child, Preschool, Electroretinography, Female, Humans, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Missense, Optical Imaging, Refraction, Ocular, Retina, Retinal Dystrophies, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity, Visual Field Tests, Visual Fields, blindness, Bardet Biedl syndrome, retinal degeneration, genetics, natural history, end points, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry
Abstract

PurposeThe purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10.MethodsPatients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit. Retrospective data collected included genotypes, age, onset of symptoms, and best corrected visual acuity (VA). When possible, data on refractive error, fundus images and autofluorescence (FAF), optical coherence tomography (OCT), Goldmann kinetic perimetry (VF), electroretinography (ERG), and the systemic phenotype were collected.ResultsSixty-seven individuals had variants in BBS1 (n = 38; 20 female patients and 18 male patients); or BBS10 (n = 29; 14 female patients and 15 male patients). Missense variants were the most common type of variants for patients with BBS1, whereas frameshift variants were most common for BBS10. When ERGs were recordable, rod-cone dystrophy (RCD) was observed in 82% (23/28) of patients with BBS1 and 73% (8/11) of patients with BBS10; cone-rod dystrophy (CORD) was seen in 18% of patients with BBS1 only, and cone dystrophy (COD) was only seen in 3 patients with BBS10 (27%). ERGs were nondetectable earlier in patients with BBS10 than in patients with BBS1. Similarly, VA and VF declined more rapidly in patients with BBS10 compared to patients with BBS1.ConclusionsRetinal degeneration appears earlier and is more severe in BBS10 cases as compared to those with BBS1 variants. The course of change of visual function appears to relate to genetic subtypes of BBS.

Published
2021

17. Intratumoral Immunotherapy: Is It Ready for Prime Time?

Author

Ghosn, Mario, Tselikas, Lambros, Champiat, Stéphane, Deschamps, Frederic, Bonnet, Baptiste, Carre, Émilie, Testan, Marine, Danlos, François-Xavier, Farhane, Siham, Susini, Sandrine, Suzzoni, Steve, Ammari, Samy, Marabelle, Aurélien, and De Baere, Thierry

Published
2023
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20. Defining textbook outcome for selective internal radiation therapy of hepatocellular carcinoma: an international expert study

Author

Gregory, Jules, Tselikas, Lambros, Allimant, Caroline, de Baere, Thierry, Bargellini, Irene, Bell, Jon, Bilbao, José Ignacio, Bouvier, Antoine, Chapiro, Julius, Chiesa, Carlo, Decaens, Thomas, Denys, Alban, Duran, Rafael, Edeline, Julien, Garin, Etienne, Ghelfi, Julien, Helmberger, Thomas, Irani, Farah, Lam, Marnix, Lewandowski, Robert, Liu, David, Loffroy, Romaric, Madoff, David C., Mastier, Charles, Salem, Riad, Sangro, Bruno, Sze, Daniel, Vilgrain, Valérie, Vouche, Michael, Guiu, Boris, and Ronot, Maxime

Published
2023
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22. Recommendations for whole genome sequencing in diagnostics for rare diseases

Author

Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W., Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C., Dincer, Yasemin, Eck, Sebastian H., van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G., and Weiss, Marjan M.

Published
2022
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23. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.

Author

Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R, Webster, Andrew R, Leroy, Bart P, Moore, Anthony T, and De Baere, Elfride

Subjects
Humans, Microphthalmos, Membrane Proteins, Cohort Studies, Family, Heterozygote, Mutation, Alleles, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, DNA Copy Number Variations, Serine Proteases, Whole Genome Sequencing
Abstract

This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities. An ophthalmological assessment in all families was followed by targeted MFRP and PRSS56 testing in 20 families and whole-genome sequencing in one family. Three families underwent homozygosity mapping using SNP arrays. Eight distinct MFRP mutations were found in 10/21 families (47.6%), five of which are novel including a deletion spanning the 5' untranslated region and the first coding part of exon 1. Most cases harbored homozygous mutations (8/10), while a compound heterozygous and a monoallelic genotype were identified in the remaining ones (2/10). Six distinct PRSS56 mutations were found in 9/21 (42.9%) families, three of which are novel. Similarly, homozygous mutations were found in all but one, leaving 2/21 families (9.5%) without a molecular diagnosis. Clinically, all patients had reduced visual acuity, hyperopia, short axial length and crowded optic discs. Retinitis pigmentosa was observed in 5/10 (50%) of the MFRP group, papillomacular folds in 12/19 (63.2%) of MCOP and in 3/6 (50%) of NNO cases. A considerable phenotypic variability was observed, with no clear genotype-phenotype correlations. Overall, our study represents the largest NNO and MCOP cohort reported to date and provides a genetic diagnosis in 19/21 families (90.5%), including the first MFRP genomic rearrangement, offering opportunities for gene-based therapies in MFRP-associated disease. Finally, our study underscores the importance of sequence and copy number analysis of the MFRP and PRSS56 genes in MCOP and NNO.

Published
2020

24. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

Author

Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon J., Maelfait, Jonathan, and Haerynck, Filomeen

Published
2022
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28. Evaluating the Effectiveness of Yttrium-90 Glass Microspheres in the Treatment of Hepatocellular Carcinoma, Intrahepatic Cholangiocarcinoma, and Metastatic Colorectal Cancer in Practice: Protocol for the Prospective PROACTIF Phase IV Registry Study in France

Author

Garin, Etienne, Pinaquy, Jean-Baptiste, Bailly, Clement, Sengel, Christian, Mariano-Goulart, Denis, Edeline, Julien, Blanc, Jean-Frederic, Bouvier, Antoine, Tordo, Jeremie, Rode, Agnes, Becker, Stéphanie, Sefrioui, David, de Baere, Thierry, Somma, Claude, Mastier, Charles, Goupil, Jean, Chevallier, Patrick, Regnault, Helene, Vibert, Eric, Manfredi, Sylvain, Vicaut, Eric, Patel, Binal, Boucher, Eveline, and Guiu, Boris

Published
2022
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35. Percutaneous thermal ablation of lung metastases from thyroid carcinomas. A retrospective multicenter study of 107 nodules. On behalf of the TUTHYREF network

Author

BONICHON, Françoise, de BAERE, Thierry, Berdelou, Amandine, Leboulleux, Sophie, Giraudet, Anne-Laure, Cuinet, Marie, Drui, Delphine, Liberge, Renan, Kelly, Antony, Tenenbaum, Florence, Legmann, Paul, Do Cao, Christine, Leenhardt, Laurence, Toubeau, Michel, Godbert, Yann, and Palussière, Jean

Published
2021
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38. Determination of mineral dissolution regimes using flow-through time-resolved analysis (FT-TRA) and numerical simulation

Author

De Baere, B, Molins, S, Mayer, KU, and François, R

Subjects
Dissolution regime, Flow-through, Mineral dissolution, Dissolution rates, Forsterite dissolution, Calcite dissolution, Geochemistry & Geophysics, Geochemistry, Geology, Physical Geography and Environmental Geoscience
Abstract

Flow-through time resolved analysis (FT-TRA) involves subjecting small mineral samples (< 10 mg) inserted in a miniature flow-through cell (50 μL) to controlled flows of eluent analyzed on-line by ICP-MS. In this study, FT-TRA is used to empirically determine the dissolution regimes for the two well-studied minerals forsterite and calcite, representing minerals with relatively slow and fast dissolution kinetics. A proportional increase in steady-state effluent [Mg, Si] concentrations with increasing flow-through cell eluent residence times confirms a dominantly surface-controlled dissolution regime for a powdered forsterite sample at pH 2.3, implying that transport limitations are negligible. In contrast, the relationship between flow rates and dissolution rates for single grain calcite samples at pH 2.3-4 reveals that transport limitations affect the rate of calcite dissolution. To provide a quantitative and process-based assessment of the effect of diffusive transport limitations, simulations of the calcite experiments were performed with a high resolution, pore-scale model that considers the geometry of the calcite grain and the FT-TRA flow-through reactor. The pore-scale model reproduces the observed effluent [Ca] concentrations for all experimental conditions using a single set of surface kinetic parameters, by accounting for the formation of a diffusive boundary layer (DBL) that varies in thickness as a function of flow rates. These results demonstrate that combining FT-TRA with pore-scale modeling makes it possible to obtain unprecedented insights not achievable by either method separately, including quantification of DBL thicknesses and the determination of transport controls as a function of pH, flow velocity and residence times.

Published
2016

39. Determination of mineral dissolution regimes using flow-through time-resolved analysis (FT-TRA) and numerical simulation

Author

De Baere, Bart, Molins, Sergi, Mayer, K Ulrich, and François, Roger

Subjects
Earth Sciences, Geochemistry, Bioengineering, Dissolution regime, Flow-through, Mineral dissolution, Dissolution rates, Forsterite dissolution, Calcite dissolution, Geology, Physical Geography and Environmental Geoscience, Geochemistry & Geophysics
Abstract

Flow-through time resolved analysis (FT-TRA) involves subjecting small mineral samples (< 10 mg) inserted in a miniature flow-through cell (50 μL) to controlled flows of eluent analyzed on-line by ICP-MS. In this study, FT-TRA is used to empirically determine the dissolution regimes for the two well-studied minerals forsterite and calcite, representing minerals with relatively slow and fast dissolution kinetics. A proportional increase in steady-state effluent [Mg, Si] concentrations with increasing flow-through cell eluent residence times confirms a dominantly surface-controlled dissolution regime for a powdered forsterite sample at pH 2.3, implying that transport limitations are negligible. In contrast, the relationship between flow rates and dissolution rates for single grain calcite samples at pH 2.3-4 reveals that transport limitations affect the rate of calcite dissolution. To provide a quantitative and process-based assessment of the effect of diffusive transport limitations, simulations of the calcite experiments were performed with a high resolution, pore-scale model that considers the geometry of the calcite grain and the FT-TRA flow-through reactor. The pore-scale model reproduces the observed effluent [Ca] concentrations for all experimental conditions using a single set of surface kinetic parameters, by accounting for the formation of a diffusive boundary layer (DBL) that varies in thickness as a function of flow rates. These results demonstrate that combining FT-TRA with pore-scale modeling makes it possible to obtain unprecedented insights not achievable by either method separately, including quantification of DBL thicknesses and the determination of transport controls as a function of pH, flow velocity and residence times.

Published
2016

43. The role of alanine glyoxylate transaminase-2 (agxt2) in β-alanine and carnosine metabolism of healthy mice and humans

Author

Stautemas, Jan, Jarzebska, Natalia, Shan, Zhou Xiang, Blancquaert, Laura, Everaert, Inge, de Jager, Sarah, De Baere, Siegrid, Hautekiet, Arne, Volkaert, Anneke, Lefevere, Filip B. D., Martens-Lobenhoffer, Jens, Bode-Böger, Stefanie M., Kim, Chang Keun, Leiper, James, Weiss, Norbert, Croubels, Siska, Rodionov, Roman N., and Derave, Wim

Published
2020
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45. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.

Published
2020
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47. Thermal ablation of colorectal liver metastases: a position paper by an international panel of ablation experts, the interventional oncology sans frontières meeting 2013

Author

Gillams, Alice, Goldberg, Nahum, Ahmed, Muneeb, Bale, Reto, Breen, David, Callstrom, Matthew, Chen, Min Hua, Choi, Byung Ihn, de Baere, Thierry, Dupuy, Damian, Gangi, Afshin, Gervais, Debra, Helmberger, Thomas, Jung, Ernst-Michael, Lee, Fred, Lencioni, Riccardo, Liang, Ping, Livraghi, Tito, Lu, David, Meloni, Franca, Pereira, Philippe, Piscaglia, Fabio, Rhim, Hyunchul, Salem, Riad, Sofocleous, Constantinos, Solomon, Stephen B, Soulen, Michael, Tanaka, Masatoshi, Vogl, Thomas, Wood, Brad, and Solbiati, Luigi

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Liver Disease, Biomedical Imaging, Cancer, Colo-Rectal Cancer, Digestive Diseases, Ablation Techniques, Colorectal Neoplasms, Humans, Liver Neoplasms, Survival Analysis, Colorectal neoplasms, Liver neoplasms, Ablation techniques, Consensus, Clinical protocols, Nuclear Medicine & Medical Imaging, Clinical sciences
Abstract

ObjectivesPrevious attempts at meta-analysis and systematic review have not provided clear recommendations for the clinical application of thermal ablation in metastatic colorectal cancer. Many authors believe that the probability of gathering randomised controlled trial (RCT) data is low. Our aim is to provide a consensus document making recommendations on the appropriate application of thermal ablation in patients with colorectal liver metastases.MethodsThis consensus paper was discussed by an expert panel at The Interventional Oncology Sans Frontières 2013. A literature review was presented. Tumour characteristics, ablation technique and different clinical applications were considered and the level of consensus was documented.ResultsSpecific recommendations are made with regard to metastasis size, number, and location and ablation technique. Mean 31 % 5-year survival post-ablation in selected patients has resulted in acceptance of this therapy for those with technically inoperable but limited liver disease and those with limited liver reserve or co-morbidities that render them inoperable.ConclusionsIn the absence of RCT data, it is our aim that this consensus document will facilitate judicious selection of the patients most likely to benefit from thermal ablation and provide a unified interventional oncological perspective for the use of this technology.Key points• Best results require due consideration of tumour size, number, volume and location. • Ablation technology, imaging guidance and intra-procedural imaging assessment must be optimised. • Accepted applications include inoperable disease due to tumour distribution or inadequate liver reserve. • Other current indications include concurrent co-morbidity, patient choice and the test-of-time approach. • Future applications may include resectable disease, e.g. for small solitary tumours.

Published
2015

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