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3. Schimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and KRAS mutation: a current review and novel case report.

Author

Yeager, Lauren B., Casper, Daniel S., Del Portillo, Armando, and Marr, Brian P.

Subjects
NEUROCUTANEOUS disorders, MOLECULAR spectra, EYE-socket tumors, EYE pain, CENTRAL nervous system
Abstract

Schimmelpenning-Feurstein-Mims Syndrome (SFMS) is a rare neurocutaneous disorder. Herein, we describe a novel case and review the phenotypic spectrum and molecular findings of SFMS from an ophthalmology perspective. Clinical case including presentation, management, pathology, and genetic analysis is described. A literature search on Schimmelpenning-Feuerstein-Mims and its synonyms, Linear nevus sebaceous syndrome, Organoid nevus syndrome, Jadassohn nevus phacomatosis, and Solomon syndrome, was conducted. An updated review and description of published cases with identified genetic mutations are described. A 13-year-old boy with SFMS presented with acute right eye pain and an enlarging orbital mass. Excisional biopsy of the mass revealed an orbital choristoma. Genetic analysis of the orbital tumor confirmed a KRAS c.35 G>A, p.G12D mutation. A literature search revealed 19 cases of SFMS with mutations in the RAS-pathway. KRAS, HRAS, and NRAS mutations were identified in 74%, 21%, and 5% of patients, respectively. Ophthalmic pathology was seen in 83% of patients. Systemic findings varied and involved the skin, central nervous system, and eyes most commonly. SFMS, a rare neurocutaneous disorder, results from postzygotic mosaic mutations in the RAS/MAPK pathway. Patients present with various systemic findings and ophthalmic manifestations occur in most cases. This is the first case description of a KRAS mutation identified in an orbital choristoma in SFMS. The disease is described under various names in the literature, and we propose that all syndromic cases with mosaic RAS mutations be reported under the eponym, SFMS. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Retinoblastoma Intra-arterial Chemotherapy

Author

Greenberg, Edward D., Gobin, Y. Pierre, Marr, Brian P., Brodie, Scott E., Dunkel, Ira J., Abramson, David H., Lee, Michael J., Series editor, Watkinson, Anthony, Series editor, Murphy, Kieran, editor, and Robertson, Fergus, editor

Published
2014
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13. Relationship between physician-adjudicated adverse events and patient-reported health-related quality of life in a phase II clinical trial (NCT01143402) of patients with metastatic uveal melanoma

Author

Atkinson, Thomas M., Hay, Jennifer L., Shoushtari, Alexander, Li, Yuelin, Paucar, Daniel J., Smith, Sloane C., Kudchadkar, Ragini R., Doyle, Austin, Sosman, Jeffrey A., Quevedo, Jorge Fernando, Milhem, Mohammed M., Joshua, Anthony M., Linette, Gerald P., Gajewski, Thomas F., Lutzky, Jose, Lawson, David H., Lao, Christopher D., Flynn, Patrick J., Albertini, Mark R., Sato, Takami, Lewis, Karl, Marr, Brian, Abramson, David H., Dickson, Mark Andrew, Schwartz, Gary K., and Carvajal, Richard D.

Published
2017
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15. Characterizing metastatic uveal melanoma patients who develop symptomatic brain metastases

Author

Wei, Alexander Z., primary, Uriel, Matan, additional, Porcu, Agata, additional, Manos, Michael P., additional, Mercurio, Ann C., additional, Caplan, Michael M., additional, Hulse, Liam, additional, Seedor, Rino S., additional, Holovatska, Marta, additional, Francis, Jasmine, additional, Khan, Shaheer A., additional, McDonnell, Diana E., additional, Bogomolny, Dmitry, additional, Sato, Takami, additional, Marr, Brian P., additional, Haq, Rizwan, additional, Orloff, Marlana, additional, Shoushtari, Alexander, additional, and Carvajal, Richard D., additional

Published
2022
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19. Characterizing metastatic uveal melanoma patients who develop symptomatic brain metastases.

Author

Wei, Alexander Z, Uriel, Matan, Porcu, Agata, Manos, Michael P, Mercurio, Ann C, Caplan, Michael M, Hulse, Liam, Seedor, Rino S, Holovatska, Marta, Francis, Jasmine, Khan, Shaheer A, McDonnell, Diana E, Bogomolny, Dmitry, Sato, Takami, Marr, Brian P, Haq, Rizwan, Orloff, Marlana, Shoushtari, Alexander, Carvajal, Richard D, Wei, Alexander Z, Uriel, Matan, Porcu, Agata, Manos, Michael P, Mercurio, Ann C, Caplan, Michael M, Hulse, Liam, Seedor, Rino S, Holovatska, Marta, Francis, Jasmine, Khan, Shaheer A, McDonnell, Diana E, Bogomolny, Dmitry, Sato, Takami, Marr, Brian P, Haq, Rizwan, Orloff, Marlana, Shoushtari, Alexander, and Carvajal, Richard D

Abstract

Metastatic uveal melanoma (mUM) is an advanced ocular malignancy characterized by a hepatotropic pattern of spread. As the incidence of brain metastases (BM) in mUM patients has been thought to be low, routine CNS surveillance has not been recommended. Notably, no formal assessment of BM incidence in mUM has to date been published to support this clinical practice. We aimed to determine the true rate of BM in mUM and to clarify the clinical and genomic risk factors associated with BM patients through a collaborative multicenter, retrospective research effort. Data collected from 1,845 mUM patients in databases across four NCI-designated comprehensive cancer centers from 2006-2021 were retrospectively analyzed to identify patients with BM. Brain imaging in most cases were performed due to onset of neurological symptoms and not for routine surveillance. An analysis of demographics, therapies, gene expression profile, tumor next generation sequencing (NGS) data, time to metastasis (brain or other), and survival in the BM cohort was completed. 116/1,845 (6.3%) mUM patients were identified with BM. The median age at time of UM diagnosis was 54 years old (range: 18-77). The median time to any metastasis was 4.2 years (range: 0-30.8). The most common initial metastatic site was the liver (75.9%). 15/116 (12.9%) BM patients presented with BM at the time of initial metastatic diagnosis. Median survival after a diagnosis of BM was 7.6 months (range: 0.4-73.9). The median number of organs involved at time of BM diagnosis was 3 (range: 1-9). DecisionDX-UM profiling was completed on 13 patients: 10-Class 2, 2-Class 1B, and 1-Class 1A. NGS and cytogenetic data were available for 34 and 21 patients, respectively. BM was identified in 6.3% of mUM cases and was associated with high disease burden and a median survival of under 8 months once diagnosed. Since most patients in this cohort were symptomatic, the incidence of asymptomatic BM remains unknown. These data suggest the use of

Published
2022

23. Ultrasound Verification of Plaque Brachytherapy Placement in Patients Treated for Primary Uveal Melanoma: A Single-Center Experience

Author

Grimes, Joseph M., Zhou, Henry, Dal Col, Alexis K., Gershkovich, Alexandra, Bogomolny, Dmitry, and Marr, Brian P.

Abstract

Introduction:Proper plaque positioning is essential for effective episcleral plaque brachytherapy and can be verified using ultrasound. In this study, we show our center’s protocol for intraoperative ultrasound verification of plaque placement and present our single-center local recurrence data in patients with primary UM involving the choroid and/or ciliary body. We also indicate our center’s distance metastasis rate for patients presenting with primary UM. Methods:All patients who presented to our institution with UM of the choroid and/or ciliary body between May 2017 and March 2022 and treated with plaque brachytherapy were enrolled. Endpoints include the 24-month local recurrence-free rate (primary) and 24-month metastasis rate (secondary), both estimated using the Kaplan-Meier method (KM). Results:Local Recurrence: 176 patients met the study criteria with median follow-up of 23.2 months. The 24-month recurrence-free probability for this cohort was estimated at 99.1% (95% confidence interval: 0.974–1.00). Metastatic Recurrence: 136 of these patients underwent at least one follow-up surveillance scan. The 24-month metastasis-free survival probability in our cohort was estimated at 87% (95% confidence interval: 81–94%). Conclusions:We show improved local control utilizing ultrasound verification compared to historical controls who received TTT and brachytherapy without intraoperative ultrasound confirmation.

Published
2023
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41. Response criteria for intraocular retinoblastoma: RB‐RECIST

Author

Berry, Jesse L., primary, Munier, Francis L., additional, Gallie, Brenda L., additional, Polski, Ashley, additional, Shah, Sona, additional, Shields, Carol L., additional, Gombos, Dan S., additional, Ruchalski, Kathleen, additional, Stathopoulos, Christina, additional, Shah, Rachana, additional, Jubran, Rima, additional, Kim, Jonathan W., additional, Mruthyunjaya, Prithvi, additional, Marr, Brian P., additional, Wilson, Matthew W., additional, Brennan, Rachel C., additional, Chantada, Guillermo L., additional, Chintagumpala, Murali M., additional, and Murphree, A. Linn, additional

Published
2021
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46. Contributors

Author

Abitbol, Andre, primary, Abramson, David H., additional, Advani, Ranjana, additional, Ahmed, Mohammed, additional, Akin, Oguz, additional, Alektiar, Kaled M., additional, Alvarado, Michael, additional, Amols, Howard I., additional, Armstrong, John G., additional, Asselin, Barbara L., additional, Barani, Igor J., additional, Barker, Christopher A., additional, Beaulieu, Luc, additional, Bedford, Joel S., additional, Begg, Adrian C., additional, Bentzen, Søren M., additional, Bevan, Alison, additional, Bidaut, Luc M., additional, Blakely, Eleanor A., additional, Brown, J. Martin, additional, Burman, Chandra M., additional, Cahlon, Oren, additional, Callister, Matthew D., additional, Carroll, Peter, additional, Castro, Joseph R., additional, Chang, Daniel T., additional, Chang, Susan M., additional, Char, Devron H., additional, Chen, Allen M., additional, Chen, Andy, additional, Chen, Chien Peter, additional, Chi, Dennis S., additional, Chinnaiyan, Prakash, additional, Cho, Robert W., additional, Choi, Walter H., additional, Chong, Lanceford M., additional, Clark, Orlo H., additional, Clarke, Michael F., additional, Coakley, Fergus V., additional, Colevas, A. Dimitrios, additional, Constine, Louis S., additional, Coutre, Steven, additional, Culliney, Bruce, additional, Daftari, Inder K., additional, DeNardo, Sally J., additional, Diehn, Maximilian, additional, Donald, Paul J., additional, Dunkel, Ira J., additional, Dunphy, Mark, additional, Duska, Linda R., additional, Dutton, Sharon C., additional, Edwards, Michael S.B., additional, Farmer, Diana L., additional, Filion, Edith J., additional, Fischbein, Nancy J., additional, Fisher, George A., additional, Fisher, Paul Graham, additional, Ford, James M., additional, Fowble, Barbara, additional, Fu, Jennifer M., additional, Fu, Karen K., additional, Fuks, Zvi Y., additional, Gamo, Ignacio Azinovic, additional, Ganjoo, Kristen N., additional, Giaccia, Amato J., additional, Gibbs, Iris C., additional, Gillin, Michael T., additional, Ginsberg, Michelle S., additional, Goldsmith, Brian J., additional, Gomez, Daniel R., additional, Goodman, Karyn, additional, Gottschalk, Alexander R., additional, Graves, Edward E., additional, Green, Sheryl, additional, Grekin, Roy C., additional, Grewal, Ravinder K., additional, Gunderson, Leonard L., additional, Gutin, Philip H., additional, Haas-Kogan, Daphne A., additional, Haddock, Michael G., additional, Hammond, Ester M., additional, Harari, Paul M., additional, Harrison, Louis B., additional, Harshman, Lauren C., additional, Hayden, Melanie G. Gephart, additional, Hinerman, Russell W., additional, Ho, Alice Y., additional, Hoppe, Richard T., additional, Horning, Sandra J., additional, Hricak, Hedvig, additional, Hsu, Annie, additional, Hsu, I-Chow Joe, additional, Hu, Kenneth S., additional, Hudson, Melissa M., additional, Humm, John L., additional, Johannet, Peter, additional, Kaplan, Michael J., additional, Kapp, Daniel S., additional, Kashani-Sabet, Mohammed, additional, Katznelson, Laurence, additional, Kauff, Noah D., additional, Keall, Paul J., additional, Kim, Youn H., additional, King, Christopher R., additional, Knox, Susan J., additional, Koch, Cameron J., additional, Kollmeier, Marisa M., additional, Koong, Albert, additional, Krug, Lee M., additional, Kunz, Pamela L., additional, La Quaglia, Michael P., additional, Larson, David A., additional, Larson, Steven, additional, Laws, Edward R., additional, Le, Quynh-Thu, additional, Lee, Andrew K., additional, Lee, Nancy, additional, Li, Gloria C., additional, Lillis-Hearne, Patricia, additional, Ling, C. Clifton, additional, Linstadt, David E., additional, Loeffler, Jay S., additional, Loo, Billy W., additional, LoSasso, Thomas, additional, Mageras, Gikas S., additional, Margolis, Lawrence, additional, Marr, Brian P., additional, Matthay, Katherine K., additional, McBride, Sean M., additional, McCormick, Beryl, additional, McDermott, Michael W., additional, Melisko, Michelle, additional, Michaud, Karine, additional, Miller, Robert C., additional, Minsky, Bruce D., additional, Mishra, Kavita K., additional, Mohan, Radhe, additional, Myerson, Robert J., additional, Nag, Subir, additional, Nakamura, Jean L., additional, Narayana, Ashwatha, additional, Nori, Dattatreyudu, additional, Norton, Jeffrey A., additional, Orton, Colin G., additional, Parliament, Matthew B., additional, Petti, Paula L., additional, Phillips, Theodore Locke, additional, Pineda, Carlos E., additional, Pires, Isabel M., additional, Pouliot, Jean, additional, Presti, Joseph, additional, Quivey, Jeanne M., additional, Quon, Andrew, additional, Rabinovitch, Rachel, additional, Recht, Lawrence, additional, Reddy, Sunil A., additional, Rimner, Andreas, additional, Roach, Mack, additional, Rosenberg, Jonathan E., additional, Rosenthal, Seth A., additional, Rosenzweig, Kenneth E., additional, Rothenberg, Lawrence N., additional, Ruan, Daniel, additional, Russell, Anthony H., additional, Ryu, Janice, additional, Schefler, Amy C., additional, Schefter, Tracey E., additional, Schulz-Ertner, Daniela, additional, Schupak, Karen D., additional, Scruggs, Granger R., additional, Sessions, Roy B., additional, Shrieve, Dennis C., additional, Small, Eric J., additional, Sneed, Penny K., additional, Spierer, Marnee M., additional, Srinivas, Sandy, additional, Stauffer, Paul, additional, Stock, Richard G., additional, Sun, Xiaorong, additional, Swetter, Susan M., additional, Swift, Patrick S., additional, Tempero, Margaret A., additional, Tsujii, Hirohiko, additional, Tuniz, Francesco, additional, Urtasun, Raul C., additional, Venook, Alan P., additional, Verhey, Lynn J., additional, Wagman, Raquel, additional, Wallner, Kent, additional, Warren, Robert, additional, Weissman, Irving L., additional, Welton, Mark L., additional, Wharam, Moody D., additional, Wilson, George David, additional, Wilson, Paul F., additional, Wolden, Suzanne L., additional, Woo, Shiao Y., additional, Xia, Ping, additional, Xing, Lei, additional, Yahalom, Joachim, additional, Yamada, Yoshiya, additional, Yom, Sue S., additional, and Zelefsky, Michael J., additional

Published
2010
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47. Retinoblastoma

Author

Abramson, David H., primary, McCormick, Beryl, additional, Schefler, Amy C., additional, Dunkel, Ira J., additional, and Marr, Brian P., additional

Published
2010
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