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18 results on '"Miller, Audra K."'

1. Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case–control study

Author

de Bloeme , Christiaan M., Jansen, Robin W., Cardoen, Liesbeth, Göricke, Sophia, van Elst, Sabien, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H., Miller, Audra K., Maeder, Philippe, Uner, Ogul E., Hubbard, G. Baker, Grossniklaus, Hans, Boldt, H. Culver, Nichols, Kim E., Brennan, Rachel C., Sen, Saugata, Koob, Mériam, Sirin, Selma, Brisse, Hervé J., Galluzzi, Paolo, Dommering, Charlotte J., Cysouw, Matthijs, Boellaard, Ronald, Dorsman, Josephine C., Moll, Annette C., de Jong, Marcus C., and de Graaf, Pim

Published
2024
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3. Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study

Author

de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Koob, Mériam, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Cysouw, Matthijs, Boellaard, Ronald; https://orcid.org/0000-0002-0313-5686, Dorsman, Josephine C, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, European Retinoblastoma Imaging Collaboration, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Koob, Mériam, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Cysouw, Matthijs, Boellaard, Ronald; https://orcid.org/0000-0002-0313-5686, Dorsman, Josephine C, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, and European Retinoblastoma Imaging Collaboration

Abstract

MYCN-amplified RB1 wild-type (MYCN$^{amp}$RB1$^{+/+}$) retinoblastoma is a rare and aggressive subtype, often resistant to standard therapies. Identifying unique MRI features is crucial for diagnosing this subtype, as biopsy is not recommended. This study aimed to differentiate MYCN$^{amp}$RB1$^{+/+}$ from the most prevalent RB1$^{-/-}$ retinoblastoma using pretreatment MRI and radiomics. Ninety-eight unilateral retinoblastoma patients (19 MYCN cases and 79 matched controls) were included. Tumors on T2-weighted MR images were manually delineated and validated by experienced radiologists. Radiomics analysis extracted 120 features per tumor. Several combinations of feature selection methods, oversampling techniques and machine learning (ML) classifiers were evaluated in a repeated fivefold cross-validation machine learning pipeline to yield the best-performing prediction model for MYCN. The best model used univariate feature selection, data oversampling (duplicating MYCN cases), and logistic regression classifier, achieving a mean AUC of 0.78 (SD 0.12). SHAP analysis highlighted lower sphericity, higher flatness, and greater gray-level heterogeneity as predictive for MYCN$^{amp}$RB1$^{+/+}$ status, yielding an AUC of 0.81 (SD 0.11). This study shows the potential of MRI-based radiomics to distinguish MYCN$^{amp}$RB1$^{+/+}$ and RB1$^{-/-}$ retinoblastoma subtypes.

Published
2024

4. External Validation of a Vision Prognostication Tool for Vision Loss after Plaque Brachytherapy

Author

Guillot, Florian H., Miller, Audra K., Kosydar, Misty, Kaya, Erin, Merz, Brandon, Binder, Christina, Kahn, Jenna M., Johnson, Alicia J., and Skalet, Alison H.

Abstract

Introduction:Vision loss remains a significant concern for patients undergoing radiation treatment for uveal melanoma. Herein, we identify predictors of vision loss after plaque brachytherapy at our academic medical center and, using this independent data set, evaluate a published vision prognostication tool. Methods:A retrospective chart review identified 252 posterior uveal melanoma patients treated with iodine-125 plaque brachytherapy from 2013 to 2018. Interval-censored nonparametric survival analysis estimated risk for moderate (<20/50) and severe (<20/200) vision loss at 3 and 5 years post-brachytherapy. Factors affecting vision loss were evaluated using interval-censored proportional hazards regression models. The prognostication tool was evaluated using a receiver operating curve and comparing predicted risk to observed risk. Results:Increased age, tumor height, and radiation dose to optic disc were associated with vision loss for patients with baseline VA ≥20/50. For those with baseline VA ≥20/200, risk factors included dose to optic disc, female sex, and baseline vision worse than 20/50. The vision prognostication tool demonstrated a moderate ability to differentiate patients with 3-year vision <20/200, with an area under the curve of 0.75. Conclusion:The vision prognostication tool was predictive for vision loss but generally overestimated risk, possibly reflecting evolving practice patterns including anti-VEGF use for radiation retinopathy.

Published
2024
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6. MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma

Author

Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Castelijns, Jonas A, van der Valk, Paul, Boellaard, Ronald, Dorsman, Josephine, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, de Graaf, Pim; https://orcid.org/0000-0003-1938-0747, Jansen, Robin W; https://orcid.org/0000-0003-0347-1919, de Bloeme, Christiaan M; https://orcid.org/0000-0002-4901-0301, Cardoen, Liesbeth; https://orcid.org/0000-0001-7842-8638, Göricke, Sophia, van Elst, Sabien; https://orcid.org/0000-0003-2784-1988, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H, Miller, Audra K; https://orcid.org/0000-0003-2774-6059, Maeder, Philippe; https://orcid.org/0000-0002-2875-4889, Uner, Ogul E; https://orcid.org/0000-0002-8730-6859, Hubbard, G Baker; https://orcid.org/0000-0001-5427-438X, Grossniklaus, Hans, Boldt, H Culver; https://orcid.org/0000-0002-7292-2093, Nichols, Kim E; https://orcid.org/0000-0002-5581-6555, Brennan, Rachel C; https://orcid.org/0000-0002-2090-4395, Sen, Saugata; https://orcid.org/0000-0002-0418-712X, Sirin, Selma; https://orcid.org/0000-0003-4555-0367, Brisse, Hervé J; https://orcid.org/0000-0003-2794-5875, Galluzzi, Paolo; https://orcid.org/0000-0002-7553-5064, Dommering, Charlotte J; https://orcid.org/0000-0001-5565-7526, Castelijns, Jonas A, van der Valk, Paul, Boellaard, Ronald, Dorsman, Josephine, Moll, Annette C; https://orcid.org/0000-0002-9313-8345, de Jong, Marcus C; https://orcid.org/0000-0002-8524-5108, and de Graaf, Pim; https://orcid.org/0000-0003-1938-0747

Abstract

Background MYCN-amplified RB1 wild-type (MYCN$^{A}$RB1$^{+/+}$) retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype. Materials and Methods In this retrospective, multicenter, case-control study, MRI scans in children with MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and age-matched children with RB1$^{-/-}$ subtype retinoblastoma were included (case-control ratio, 1:4; scans acquired from June 2001 to February 2021; scans collected from May 2018 to October 2021). Patients with histopathologically confirmed unilateral retinoblastoma, genetic testing (RB1/MYCN status), and MRI scans were included. Associations between radiologist-scored imaging features and diagnosis were assessed with the Fisher exact test or Fisher-Freeman-Halton test, and Bonferroni-corrected P values were calculated. Results A total of 110 patients from 10 retinoblastoma referral centers were included: 22 children with MYCN$^{A}$RB1$^{+/+}$ retinoblastoma and 88 control children with RB1$^{-/-}$ retinoblastoma. Children in the MYCN$^{A}$RB1$^{+/+}$ group had a median age of 7.0 months (IQR, 5.0-9.0 months) (13 boys), while children in the RB1$^{-/-}$ group had a median age of 9.0 months (IQR, 4.6-13.4 months) (46 boys). MYCN$^{A}$RB1$^{+/+}$ retinoblastomas were typically peripherally located (in 10 of 17 children; specificity, 97%; P < .001) and exhibited plaque or pleomorphic shape (in 20 of 22 children; specificity, 51%; P = .011) with irregular margins (in 16 of 22 children; specificity, 70%; P = .008) and extensive retina folding with vitreous enclosure (specificity, 94%; P < .0

Published
2023

7. MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma

Author

Jansen, Robin W., primary, de Bloeme, Christiaan M., additional, Cardoen, Liesbeth, additional, Göricke, Sophia, additional, van Elst, Sabien, additional, Jessen, Jaime Lyn, additional, Ramasubramanian, Aparna, additional, Skalet, Alison H., additional, Miller, Audra K., additional, Maeder, Philippe, additional, Uner, Ogul E., additional, Hubbard, G. Baker, additional, Grossniklaus, Hans, additional, Boldt, H. Culver, additional, Nichols, Kim E., additional, Brennan, Rachel C., additional, Sen, Saugata, additional, Sirin, Selma, additional, Brisse, Hervé J., additional, Galluzzi, Paolo, additional, Dommering, Charlotte J., additional, Castelijns, Jonas A., additional, van der Valk, Paul, additional, Boellaard, Ronald, additional, Dorsman, Josephine, additional, Moll, Annette C., additional, de Jong, Marcus C., additional, and de Graaf, Pim, additional

Published
2023
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11. Metastases and death rates after primary enucleation of unilateral retinoblastoma in the USA 2007–2017

Author

Lu, Jonathan E, primary, Francis, Jasmine H, additional, Dunkel, Ira J, additional, Shields, Carol L, additional, Yu, Michael D, additional, Berry, Jesse L, additional, Kogachi, Kaitlin, additional, Skalet, Alison H, additional, Miller, Audra K, additional, Santapuram, Pranav R, additional, Daniels, Anthony B, additional, and Abramson, David H, additional

Published
2018
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13. Metastases and death rates after primary enucleation of unilateral retinoblastoma in the USA 2007-2017.

Author

Lu, Jonathan E., Francis, Jasmine H., Dunkel, Ira J., Shields, Carol L., Yu, Michael D., Berry, Jesse L., Kogachi, Kaitlin, Skalet, Alison H., Miller, Audra K., Santapuram, Pranav R., Daniels, Anthony B., and Abramson, David H.

Abstract

Background/aims: Enucleation for retinoblastoma is performed less often in the past decade due to increasingly widespread alternative therapies, but enucleation remains an important option. There is a paucity of reports on the current incidence of metastases and metastatic deaths in unilateral retinoblastoma from US centres. Methods: Retrospective chart review at five tertiary retinoblastoma centres in the USA for unilateral retinoblastoma patients treated with primary enucleation, 2007-2017, with ≥1 year of follow-up or treatment failure. Results: Among 228 patients (228 eyes), there were nine metastases (3.9%) and four deaths (1.7%). The Kaplan-Meier estimate at 5 years for metastasis-free survival was 96% (95% CI, 94% to 99%), and for overall survival was 98% (95% CI 96% to 100%). All metastases were evident within 12 months. Histopathology revealed higher risk pathology (postlaminar optic nerve and/or massive choroidal invasion) in 62 of 228 eyes (27%). Of these higher risk eyes, 39 received adjuvant chemotherapy. There were four subsequent metastases in this higher risk pathology with adjuvant chemotherapy group, with three deaths. Of the nine overall with metastases, seven (78%) showed higher risk pathology. All metastatic patients were classified as Reese-Ellsworth V and International Classification of Retinoblastoma Groups D or E. Initial metastases presented as orbital invasion in seven of nine cases. Conclusions: Primary enucleation for unilateral retinoblastoma results in a low rate of metastatic death, but is still associated with a 3.9% chance of metastases within a year of enucleation. Most but not all patients who developed metastases had higher risk histopathological findings. [ABSTRACT FROM AUTHOR]

Published
2019
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17. MRI Features for Identifying MYCN-amplified RB1Wild-type Retinoblastoma

Author

Jansen, Robin W., Bloeme, Christiaan M. de, Cardoen, Liesbeth, Göricke, Sophia, Elst, Sabien van, Jessen, Jaime Lyn, Ramasubramanian, Aparna, Skalet, Alison H., Miller, Audra K., Maeder, Philippe, Uner, Ogul E., Hubbard, G. Baker, Grossniklaus, Hans, Boldt, H. Culver, Nichols, Kim E., Brennan, Rachel C., Sen, Saugata, Sirin, Selma, Brisse, Hervé J., Galluzzi, Paolo, Dommering, Charlotte J., Castelijns, Jonas A., Valk, Paul van der, Boellaard, Ronald, Dorsman, Josephine, Moll, Annette C., Jong, Marcus C. de, and Graaf, Pim de

Abstract

MYCN-amplified RB1wild-type retinoblastoma has distinct features compared with RB1pathogenic variant–driven retinoblastoma at MRI, including tumors in a peripheral (anterior) location with plaque or pleomorphic shape, irregular margins, tumor-retinal folding, and peritumoral blood.

Published
2023
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