Ciliary body medulloepithelioma: Four cases associated with pleuropulmonary blastoma - A report from the International Pleuropulmonary Blastoma Registry

British Journal of Ophthalmology

Volumn 95, Issue 7, 2011, Pages 1001-1005

  Priest, John R ^a   Williams, Gretchen M ^a   Manera, Ricarchito ^b   Jenkinson, Helen ^c   Bründler, Marie Anne ^c   Davis, Samuel ^d   Murray, Timothy G ^e   Galliani, Carlos A ^d   Dehner, Louis P ^f  

^a CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^b LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d Birmingham Children's Hospital ^*  (United States)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f ST LOUIS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DICER; DICER1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CANCER REGISTRY; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; CILIARY BODY TUMOR; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DICER1 GENE; DISEASE ASSOCIATION; ECHOGRAPHY; ENUCLEATION; EYE EXAMINATION; FAMILY HISTORY; GENE SILENCING; GERM LINE; HEADACHE; HUMAN; LUNG BLASTOMA; MUTATOR GENE; NEUROEPITHELIOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; REGULATOR GENE; SCHOOL CHILD; VISION TEST; VISUAL ACUITY;

BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; CILIARY BODY; FEMALE; GENE SILENCING; HUMANS; MALE; NEUROECTODERMAL TUMORS, PRIMITIVE; PULMONARY BLASTOMA; REGISTRIES;

EID: 79959351318     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2010.189779     Document Type: Article

References (43)

1. Plon SE, Malkin D. Childhood Cancer and Heredity. In: Pizzo PA PD, ed. Principles and Practice of Pediatric Oncology 5th edn. Philadelphia: Lippincott Williams & Wilkins, 2005:14-37.
2. Lohmann DR. RB1 gene mutations in retinoblastoma. Hum Mutat 1999;14:283-8. (Pubitemid 29480311)
3. Chung EM, Smirniotopoulos JG, Specht CS, et al. From the archives of the AFIP: pediatric orbit tumors and tumorlike lesions: nonosseous lesions of the extraocular orbit. Radiographics 2007;27:1777-99.
4. Fuchs E. [Proliferations and Tumors of the Epithelium of the Ciliary Body]. Albrecht von Graefes Arch Ophthalmology 1908;68:534-87.
5. Shields JA, Shields CL. Atlas of Intraocular Tumors. 3rd edn. Philadelphia: Lippincott Williams & Wilkins, 2008.
6. Shields JA, Eagle RC Jr, Shields CL, et al. Congenital neoplasms of the nonpigmented ciliary epithelium (medulloepithelioma). Ophthalmology 1996;103:1998-2006. (Pubitemid 27024620)
7. Broughton WL, Zimmerman LE. A clinicopathologic study of 56 cases of intraocular medulloepitheliomas. Am J Ophthalmol 1978;85:407-18. (Pubitemid 8313847)
8. McLean IW, Burnier MN, Zimmerman LE, et al. Atlas of tumour pathology: tumors of the eye and adnexa. In: Rosai J, Soblin L, eds. Tumors of the retina. Washington, DC: Armed Forces Institute of Pathology, 1994:97-154.
9. Canning CR, McCartney AC, Hungerford J. Medulloepithelioma (diktyoma). Br J Ophthalmol 1988;72:764-7.
10. Minoda K, Hirose Y, Sugano I, et al. Occurrence of sequential intraocular tumors: malignant medulloepithelioma subsequent to retinoblastoma. Jpn J Ophthalmol 1993;37:293-300. (Pubitemid 23320799)
11. Mamalis N, Font RL, Anderson CW, et al. Concurrent benign teratoid medulloepithelioma and pineoblastoma. Ophthalmic Surg 1992;23:403-8.
12. Whittle IR, McClellan K, Martin FJ, et al. Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? Neurosurgery 1985;17:500-5.
13. Bader JL, Miller RW, Meadows AT, et al. Trilateral retinoblastoma. Lancet 1980;2:582-3. (Pubitemid 10056616)
14. Dehner LP. Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. Semin Diagn Pathol 1994;11:144-51. (Pubitemid 24273783)
15. Manivel JC, Priest JR, Watterson J, et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer 1988;62:1516-26.
16. Priest JR, McDermott MB, Bhatia S, et al. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer 1997;80:147-61. (Pubitemid 27270932)
17. Priest JR, Williams GM, Hill DA, et al. Pulmonary cysts in early childhood and the risk of malignancy. Pediatr Pulmonol 2009;44:14-30.
18. Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009;325:965.
19. Priest JR, Watterson J, Strong L, et al. Pleuropulmonary blastoma: a marker for familial disease. J Pediatr 1996;128:220-4. (Pubitemid 26065946)
20. OMIM, Online. Mendelian inheritance in man OTJHU. Baltimore, MD. MIM Number: {601200}: World Wide Web, 2009. http://www.ncbi.nlm.nih.gov/omim/.
21. Hill DA, Wang JD, Schoettler P, et al. Germline DICER1 mutations are common in both hereditary and presumed sporadic pleuropulmonary blastoma [Abstract]. Lab Invest 2010;90:311.
22. Bahubeshi A, Bal N, Rio Frio T, et al. Germline DICER1 Mutations and Familial Cystic Nephroma. J Med Genet [in press].
23. Slade I, Bacchelli C, Davies H, et al. DICER1 syndromeda pleiotropic tumor predisposition syndrome [Abstract]. Proceedings of 2010 Amer Soc Human Genet Conf 2010.
24. PPB Registry. International Pleuropulmonary Blastoma Registry. Web site bibliography 2010. http://www.ppbregistry.org/sources/index.php.
25. Lallier M, Bouchard S, Di Lorenzo M, et al. Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. J Pediatr Surg 1999;34:1057-9. (Pubitemid 29336892)
26. Foster RE, Murray TG, Byrne SF, et al. Echographic features of medulloepithelioma. Am J Ophthalmol 2000;130:364-6.
27. Boman F, Hill DA, Williams GM, et al. Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry. J Pediatr 2006;149:850-4.
28. Cross SF, Arbuckle S, Priest JR, et al. Familiar pleuropulmonary blastoma in Australia. Pediatr Blood Cancer 2010.
29. Schultz KA, Williams G, Hill D, et al. Ovarian tumors in association with pleuropulmonary blastoma: a new manifestation of the PPB Tumor syndrome [Abstract]. Pediatr Blood Cancer 2010;54:850.
30. Priest JR, Williams GM, Mize WA, et al. Nasal chondromesenchymal hamartoma in children with pleuropulmonary blastoma - a report from the International Pleuropulmonary Blastoma Registry registry. Int J Pediatr Otorhinolaryngol 2010;74:1240-4.
31. McDermott MB, Ponder TB, Dehner LP. Nasal chondromesenchymal hamartoma: an upper respiratory tract analogue of the chest wall mesenchymal hamartoma. Am J Surg Pathol 1998;22:425-33. (Pubitemid 28164548)
32. Johnson C, Nagaraj U, Esguerra J, et al. Nasal chondromesenchymal hamartoma: radiographic and histopathologic analysis of a rare pediatric tumor. Pediatr Radiol 2007;37:101-4. (Pubitemid 44843059)
33. Dimaras H, Khetan V, Halliday W, et al. Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma. Hum Mol Genet 2008;17:1363-72. (Pubitemid 351627333)
34. Margo C, Hidayat A, Kopelman J, et al. A benign variant of retinoblastoma. Arch Ophthalmol 1983;101:1519-31.
35. Singh AD, Santos CM, Shields CL, et al. Observations on 17 patients with retinocytoma. Arch Ophthalmol 2000;118:199-205. (Pubitemid 30086206)
36. Hill DA, Jarzembowski JA, Priest JR, et al. Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry. Am J Surg Pathol 2008;32:282-95. (Pubitemid 351172144)
37. Neglia JP, Friedman DL, Yasui Y, et al. Second malignant neoplasms in five-year survivors of childhood cancer: childhood cancer survivor study. J Natl Cancer Inst 2001;93:618-29. (Pubitemid 32409629)
38. Niedziela M. Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter. Pediatr Blood Cancer 2008;51:543-5.
39. O'Brien PK, Wilansky DL. Familial thyroid nodulation and arrhenoblastoma. Am J Clin Pathol 1981;75:578-81. (Pubitemid 11127696)
40. Stefani G, Slack FJ. Small non-coding RNAs in animal development. Nat Rev Mol Cell Biol 2008;9:219-30. (Pubitemid 351301826)
41. Damiani D, Alexander JJ, O'Rourke JR, et al. Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina. J Neurosci 2008;28:4878-87.
42. Li Y, Piatigorsky J. Targeted deletion of Dicer disrupts lens morphogenesis, corneal epithelium stratification, and whole eye development. Dev Dyn 2009;238:2388-400.
43. Lambertz I, Nittner D, Mestdagh P, et al. Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo. Cell Death Differ 2010;17:633-41.