Advanced search
Publication Cover
Ophthalmic Genetics Volume 43, 2022 - Issue 6: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD
Submit an article Journal homepage
138
Views
0
CrossRef citations to date
0
Altmetric
Case Report

Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA

Sarah Pikea The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0003-1154-7629View further author information
ORCID Icon,
Rahul Iyengara The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-1178-1717View further author information
ORCID Icon,
Chen-Ching Penga The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-2703-1275View further author information
ORCID Icon,
Patricia Chevez-Barriosc Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USAView further author information
,
Brianne Browna The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Rachana Shahd Cancer and Blood Disease Institute Retinoblastoma Program, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Jaclyn Biegele Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Venkata Yellapantulae Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Aaron Nagiela The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0001-7275-6980View further author information
ORCID Icon,
Bibiana Jin Reisera The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USAView further author information
,
Liya Xua The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USAORCID Iconhttps://orcid.org/0000-0002-5501-2039View further author information
ORCID Icon &
Jesse L. Berrya The Vision Center, Children’s Hospital Los Angeles, Los Angeles, CA, USA;b USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA;f The Saban Research Institute, Children’s Hospital Los Angeles, Los Angeles, CA, USA;g Norris Comprehensive Cancer Center, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8907-9100View further author information
ORCID Icon show all
Pages 855-861 | Received 04 Oct 2022, Accepted 14 Oct 2022, Published online: 31 Oct 2022

References

  • Pushker N, Shrey D, Bajaj MS, Kashyap S, Yadav P, Mehta M, Bakhshi S. Malignant non-teratoid medulloepithelioma of the optic nerve with intraocular extension. Clin Exp Ophthalmol. 2010;38(7):731–33. doi:10.1111/j.1442-9071.2010.02331.x. Cited in: PMID: 20497433.
  • Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, et al. DICER1 syndrome: characterization of the ocular phenotype in a family-based cohort study. Ophthalmology. 2019;126(2):296–304. doi:10.1016/j.ophtha.2018.09.038. Cited in: PMID: 30339877.
  • Canning CR, McCartney AC, Hungerford J. Medulloepithelioma (diktyoma). Br J Ophthalmol. 1988;72(10):764–67. doi:10.1136/bjo.72.10.764. Cited in: PMID: 3056510.
  • Saunders T, Margo CE. Intraocular medulloepithelioma. Arch Pathol Lab Med. 2012;136(2):212–16. doi:10.5858/arpa.2010-0669-RS. Cited in: PMID: 22288972.
  • Sosińska-Mielcarek K, Senkus-Konefka E, Jaskiewicz K, Kordek R, Jassem J. Intraocular malignant teratoid medulloepithelioma in an adult: clinicopathological case report and review of the literature. Acta Ophthalmol Scand. 2006;84(2):259–62. doi:10.1111/j.1600-0420.2005.00586.x. Cited in: PMID: 16637848.
  • Broughton WL, Zimmerman LE. A clinicopathologic study of 56 cases of intraocular medulloepitheliomas. Am J Ophthalmol. 1978;85(3):407–18. doi:10.1016/s0002-9394(14)77739-6. Cited in: PMID: 655220.
  • Shields JA, Eagle RC, Shields CL, Potter PD. Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma). Ophthalmology. 1996;103(12):1998–2006. doi:10.1016/s0161-6420(96)30394-1. Cited in: PMID: 9003333.
  • Lee J, Choung HK, Kim YA, Kim N, Khwarg SI. Intraocular medulloepithelioma in children: clinicopathologic features itself hardly differentiate it from retinoblastoma. Int J Ophthalmol. 2019;12(7):1227–30. doi:10.18240/ijo.2019.07.28. Cited in: PMID: 31341819.
  • Kim ME, Xu L, Prabakar RK, Shen L, Peng CC, Kuhn P, Gai X, Hicks J, Berry JL. Aqueous humor as a liquid biopsy for retinoblastoma: clear corneal paracentesis and genomic analysis. J Vis Exp. 2021;(175): doi:10.3791/62939. Cited in: PMID: 34570090.
  • Berry JL, Xu L, Murphree AL, Krishnan S, Stachelek K, Zolfaghari E, McGovern K, Lee TC, Carlsson A, Kuhn P, et al. Potential of aqueous humor as a surrogate tumor biopsy for retinoblastoma. JAMA Ophthalmol. 2017;135(11):1221–30. doi:10.1001/jamaophthalmol.2017.4097. Cited in: PMID: 29049475.
  • Berry JL, Xu L, Kooi I, Murphree AL, Prabakar RK, Reid M, Stachelek K, Le BHA, Welter L, Reiser BJ, et al. Genomic cfDNA analysis of aqueous humor in retinoblastoma predicts eye salvage: the surrogate tumor biopsy for retinoblastoma. Mol Cancer Res. 2018;16(11):1701–12. doi:10.1158/1541-7786.MCR-18-0369. Cited in: PMID: 30061186.
  • Baslan T, Kendall J, Rodgers L, Cox H, Riggs M, Stepansky A, Troge J, Ravi K, Esposito D, Lakshmi B, et al. Corrigendum: genome-wide copy number analysis of single cells. Nat Protoc. 2016;11(3):616. doi:10.1038/nprot0316.616b. Cited in: PMID: 26914320.
  • Baslan T, Kendall J, Rodgers L, Cox H, Riggs M, Stepansky A, Troge J, Ravi K, Esposito D, Lakshmi B, et al. Genome-wide copy number analysis of single cells. Nat Protoc. 2012;7(6):1024–41. doi:10.1038/nprot.2012.039. Cited in: PMID: 22555242.
  • Xu L, Polski A, Prabakar RK, Reid MW, Chevez-Barrios P, Jubran R, Kim JW, Kuhn P, Cobrinik D, Hicks J, et al. Chromosome 6p amplification in aqueous humor cell-free DNA is a prognostic biomarker for retinoblastoma ocular survival. Mol Cancer Res. 2020;18(8):1166–75. doi:10.1158/1541-7786.MCR-19-1262. Cited in: PMID: 32434859.
  • Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4–23. doi:10.1016/j.jmoldx.2016.10.002. Cited in: PMID: 27993330.
  • Kaliki S, Shields CL, Eagle RC, Vemuganti GK, Almeida A, Manjandavida FP, Mulay K, Honavar SG, Shields JA. Ciliary body medulloepithelioma: analysis of 41 cases. Ophthalmology. 2013;120(12):2552–59. doi:10.1016/j.ophtha.2013.05.015. Cited in: PMID: 23796765.
  • Al-Salam S, Algawi K, Alashari M. Malignant non-teratoid medulloepithelioma of ciliary body with retinoblastic differentiation: a case report and review of literature. Neuropathology. 2008;28(5):551–56. doi:10.1111/j.1440-1789.2008.00886.x. Cited in: PMID: 18410270.
  • El Hamichi S, Acon D, Kon Graversen V, Gold AS, Berrocal AM, Murray TG. Persistent retinal detachment in retinoblastoma: the challenges. J Ophthalmol. 2020;2020:1486757. doi:10.1155/2020/1486757. Cited in: PMID: 33005444.
  • Verdijk RM. On the classification and grading of medulloepithelioma of the eye. Ocul Oncol Pathol. 2016;2(3):190–93. doi:10.1159/000443963. Cited in: PMID: 27239464.
  • Xu L, Kim ME, Polski A, Prabakar RK, Shen L, Peng CC, Reid MW, Chévez-Barrios P, Kim JW, Shah R, et al. Establishing the clinical utility of ctdna analysis for diagnosis, prognosis, and treatment monitoring of retinoblastoma: the aqueous humor liquid biopsy. Cancers (Basel). 2021;13(6):1282. doi:10.3390/cancers13061282. Cited in: PMID: 33805776.
  • Kooi IE, Mol BM, Massink MP, de Jong MC, de Graaf P, van der Valk P, Meijers-Heijboer H, Kaspers GJL, Moll AC, Te Riele H, et al. A meta-analysis of retinoblastoma copy numbers refines the list of possible driver genes involved in tumor progression. PLoS One. 2016;11(4):e0153323. doi:10.1371/journal.pone.0153323. Cited in: PMID: 27115612.
  • Korshunov A, Jakobiec FA, Eberhart CG, Hovestadt V, Capper D, Jones DT, Sturm D, Stagner AM, Edward DP, Eagle RC, et al. Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities. Neuropathology. 2015;35(6):538–44. doi:10.1111/neup.12227. Cited in: PMID: 26183384.
  • Sahm F, Jakobiec FA, Meyer J, Schrimpf D, Eberhart CG, Hovestadt V, Capper D, Lambo S, Ryzhova M, Schüller U, et al. Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas. Genes Chromosomes Cancer. 2016;55(5):418–27. doi:10.1002/gcc.22344. Cited in: PMID: 26841698.
  • Foulkes WD, Priest JR, Duchaine TF. DICER1: mutations, microRnas and mechanisms. Nat Rev Cancer. 2014;14(10):662–72. doi:10.1038/nrc3802. Cited in: PMID: 25176334.
  • Juhlin CC, Stenman A, Haglund F, Clark VE, Brown TC, Baranoski J, Bilguvar K, Goh G, Welander J, Svahn F, et al. Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes Chromosomes Cancer. 2015;54(9):542–54. doi:10.1002/gcc.22267. Cited in: PMID: 26032282.
  • Dimaras H, Corson TW, Cobrinik D, White A, Zhao J, Munier FL, Abramson DH, Shields CL, Chantada GL, Njuguna F, et al. Retinoblastoma. Nat Rev Dis Primers. 2015;1(1):15021. doi:10.1038/nrdp.2015.21. Cited in: PMID: 27189421.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.