Intraocular medulloepithelioma is a congenital tumor that arises from primitive medullary epithelium.1,2 It classically presents during the first decade of life as a fleshy nonpigmented mass of the ciliary body with intratumoral cysts seen clinically or by ultrasonography.1 Medulloepithelioma is classified histopathologically as teratoid or nonteratoid and benign or malignant.1,3 Management is most commonly with enucleation, particularly for large tumors or tumors with extensive growth along intraocular structures.1,2 However, iridocyclectomy and plaque radiotherapy can be used for less advanced cases.1 Orbital exenteration is occasionally required for cases with extensive orbital invasion.1
Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm of the lung that presents early in childhood, typically prior to 6 years of age.4 PPB is an embryonic neoplasm that arises from primitive interstitial mesenchyme that rests in the lung.5 This condition is unique among congenital tumors in its genetic propensity to manifest as part of a familial cancer syndrome, PPB Family Tumor and Dysplasia Syndrome (PPB-FTDS).4 This is believed to occur secondary to germline mutations of DICER1.4,5 Recent evidence suggests that ciliary body medulloepithelioma can be a manifestation of this syndrome.4,6,7 We present a patient with known PPB who displayed coexisting, classic ciliary body medulloepithelioma.
A 9-year-old girl was referred for poor vision in the right eye following school vision screening for a period of 2 consecutive years. Medical history included PPB of the lung, diagnosed at age 2 years. She was treated with lobectomy of the lung and adjuvant chemotherapy with no further tumor for 5 years.
On ocular examination, best-corrected visual acuity was 20/100 in the right eye and 20/20 in the left eye. Intraocular pressures were normal in each eye. The left eye was completely normal.
Evaluation of the right eye disclosed a thin, ill-defined white mass arising from the inferonasal ciliary body region and extending along the posterior aspect of the relatively clear lens, forming a cyclitic membrane (Figures 1A–1B). There was a notch in the lens and a focal cortical cataract at the site of the mass inferonasally (Figure 1A). Retinal examination disclosed retinal vascular dragging inferonasally toward the tumor, causing foveal ectopia and shallow retinal detachment. There were no features of persistent fetal vasculature.
Ciliary body medulloepithelioma in a 9-year-old girl with previously treated pleuropulmonary blastoma. (A) A white mass arising in the ciliary body region inferonasally is noted. The mass extends along the posterior surface of the lens as a cyclitic membrane with ill-defined margins. (B) By ultrasound biomicroscopy (two views), the mass appears relatively thin but extensive, involving 6 clock hours, growing onto the lens capsule, and demonstrating intralesional cysts/cavities consistent with medulloepithelioma. (C) Anterior segment optical coherence tomography shows the dilated iris with mass (M) immediately posterior and extending along the zonule to the back and front surface of the lens.
Ultrasound biomicroscopy revealed a thin, dense ciliary body mass with multifocal intrinsic cysts in the region of the pars plicata and pars plana, with no intrinsic calcification (Figure 1B). Standard ultrasonography revealed shallow tractional retinal detachment inferonasally.
These features were consistent with ciliary body medulloepithelioma arising from the nonpigmented ciliary epithelium with extensive growth along the intraocular structures. Enucleation was advised, but the patient elected to go elsewhere for care and was lost to follow-up.
In 1978, Broughton and Zimmerman reported the clinical and pathologic features of intraocular medulloepithelioma in a study of 56 cases.3 The mean age at diagnosis was 5 years and there was no predilection for sex, race, or laterality.3 The predominant symptoms included poor vision (n = 22, 39%) and pain (n = 17, 30%).3 On initial clinical examination, a cyst or mass was detected in the iris, anterior chamber, or ciliary body (n = 30, 54%).3 Glaucoma (n = 26, 46%) and cataract (n = 14, 25%) were other common clinical findings.3 Treatment was predominantly with enucleation (n = 51, 93%).3 A preoperative diagnosis of medulloepithelioma was rare (n = 7, 12%) and, in most cases, the correct diagnosis was established following enucleation.3 The tumors were classified as benign (n = 19, 34%) or malignant (n = 37, 66%). Extraocular extension was the best indicator of prognosis because the 4 patients (7%) with tumor-related death all displayed extraocular tumor with orbital involvement.3
PPB is a rare congenital malignancy of the lung and pleura. From birth to 2 years of age, PPB can present as a malignant lung cyst that is clinically indistinguishable from a benign congenital lung cyst.5 If not recognized and managed early, cystic PPB can undergo progression to its more aggressive form of high-grade sarcoma that typically occurs by 2 to 6 years of age.4,5 In 35% of affected families, PPB is associated with dysplastic and neoplastic disorders of other bodily sites that together comprise the PPB-FTDS.4
An association between ciliary body medulloepithelioma and PPB was first described in 2011.4 Priest et al. reviewed 299 confirmed cases of PPB and found that 3 patients (1%) were subsequently diagnosed as having ciliary body medulloepithe-lioma.4 In these 3 cases, PPB was diagnosed at ages 14, 20, and 33 months.4 The diagnosis of medulloepithelioma was made at ages 4, 8, and 6 years, respectively, all with the initial symptom of decreased visual acuity.4 In another case, ciliary body medulloepithelioma was identified in the father of a patient with a known diagnosis of PPB.4 The authors concluded that the 4 cases of PPB-related medulloepithelioma strongly suggested that this condition was an additional neoplasm of the PPB-FTDS.4
Kaliki et al. also documented the association between the two conditions in a retrospective analysis of 41 cases of medulloepithelioma. In that series, they identified 2 patients (5%) with known PPB.6 Based on the above findings, it is estimated that less than 1% of patients with PPB will develop associated ciliary body medulloepithelioma consistent with PPB-FTDS, and approximately 5% of patients with medulloepithelioma demonstrate PPB.6
Ciliary body medulloepithelioma has myriad presenting features. This tumor can occur as part of a familial cancer syndrome, PPB-FTDS. All patients and families with a history of medulloepithelioma should be examined for features of this syndrome.
- Shields JA, Shields CL. Tumors of the nonpigmented ciliary epithelium. In: Shields JA, Shields CL, eds. Intraocular Tumors: A Text and Atlas. Philadelphia: W.B. Saunders Co.; 1992:461–481.
- Shields JA, Shields CL. Tumors of the nonpigmented ciliary epithelium. In: Shields JA, Shields CL, eds. Intraocular Tumors: An Atlas and Textbook, 2nd ed. Philadelphia: Lippincott, Williams & Wilkins; 2008:482–483.
- Broughton WL, Zimmerman LE. A clinicopathologic study of 56 cases of intraocular medulloepitheliomas. Am J Ophthalmol. 1978;85:407–418.
- Priest JR, Williams GM, Manera R, et al. Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. Br J Ophthalmol. 2011;95:1001–1005. doi:10.1136/bjo.2010.189779 [CrossRef]
- Priest JR, Williams GM, Hill DA, Dehner LP, Jaffe A. Pulmonary cysts in early childhood and the risk of malignancy. Pediatr Pulmonol. 2009;44:14–30. doi:10.1002/ppul.20917 [CrossRef]
- Kaliki S, Shields CL, Eagle RC Jr, et al. Ciliary body medulloepithelioma: analysis of 41 cases. Ophthalmology. 2013;120:2552–2559. doi:10.1016/j.ophtha.2013.05.015 [CrossRef]
- Ramasubramanian A, Correa ZM, Augsburger JJ, Sisk RA, Plager DA. Medulloepithelioma in DICER1 syndrome treated with resection. Eye (Lond). 2013;27:896–897. doi:10.1038/eye.2013.87 [CrossRef]