Ciliary Body Medulloepithelioma Research Articles

Ciliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics

ABSTRACT Objective Ciliary body medulloepithelioma (CBME), a pediatric intraocular tumor with potential for locally aggressive behavior and metastasis, may present with a diverse spectrum of clinical and histopathologic features leading to diagnostic and management challenges. Examination of unusual CBME cases highlights challenges and modern diagnostic techniques which facilitate accurate diagnosis and guide management. Methods A retrospective clinicopathologic analysis of 6 patients with unusual clinical or pathologic features of CBME was performed. Results The mean duration of delay in accurate diagnosis was 5.7 years (SD: 8.2, median: 3, range: 0–22). All patients developed cataract, 4 (67%) were diagnosed with glaucoma, and 4 (67%) underwent surgery prior to accurate diagnosis. At initial presentation, only one patient with a known history of genetically confirmed DICER1 syndrome underwent appropriate imaging leading to a timely identification of a ciliary body mass and no delay in diagnosis. Following identification of intraocular mass, 4 (67%) patients underwent enucleation. Two patients (33%) underwent exenteration for extraocular extension of CBME. Initial histopathologic differential diagnosis included CBME, melanoma, adenoma or adenocarcinoma of the pigmented ciliary body epithelium, retinoblastoma, sarcoma, and malignant teratoma. Immunohistochemistry and genetic testing assisted in the diagnosis of CBME. Two patients (33%) had a germline DICER1 variant; this was known prior to CBME diagnosis in one patient and discovered after CBME diagnosis in the second patient. Conclusion This series highlights the unusual clinical and histopathologic features of CBME that contribute to delays in diagnosis. Modern aids including genetic testing, ancillary imaging studies, and immunohistochemistry facilitate a timely accurate diagnosis of CBME and guide management.

Analysis of clinical and pathological features of ciliary body medulloepithelioma.

To analyze and summarize the clinical and pathological features of ciliary body medulloepithelioma. The clinical and pathological data of 11 patients (11 eyes) who were diagnosed with ciliary body medulloepithelioma at Beijing Tongren Hospital, Capital Medical University, from 2007 to 2021 were retrospectively analyzed. The initial symptoms of 11 patients included vision loss (6 eyes), atrophia bulbi (1 eye), proptosis (2 eyes), and leukocoria (2 eyes). Most patients suffered with corneal opacity, anterior chamber flare and hyphema. Iris neovascularization and synechia, complicated cataract, and secondary glaucoma occurred in several cases. Three patients even had lens subluxation and retinal detachment. B-scan ultrasonography showed vitreous opacity and a medium-high uneven echo mass in the eyeball. Ultrasound biomicroscopy examination showed a spherical or hemispherical ciliary body mass with uneven internal echoes and irregular cystic spaces. All of the 11 patients were diagnosed with malignant ciliary body medulloepithelioma by pathological evidence. In this study, 6 patients had enucleation (2 patients had systemic chemotherapy after surgery), and the other 5 patients had local tumor resection (1 patient had plaque radiotherapy after surgery). Ciliary body medulloepithelioma is a rare intraocular tumor and may be easily confused with retinoblastoma. Analyzing the clinical and pathological features of ciliary body medulloepithelioma is useful to further understand ciliary body medulloepithelioma, and can make an accurate diagnosis and better treatment.

Surgical Resection of Intraocular Tumors (Partial Transscleral Sclerouvectomy Combined With Mircoinvasive Vitrectomy and Reconstruction of the Eyeball) in Asian Patients: Twenty-Five Years Results.

ObjectiveTo describe the outcome of intraocular tumor resection by partial transscleral sclerouvectomy (PTSU) combined with micro-invasive vitrectomy and reconstruction of the eyeball (MVRE) in Asian patients.Design, Methods and ParticipantsThis retrospective, interventional cohort study included 366 patients who underwent PTSU combined with MVRE for intraocular tumors both in adult and pediatric age groups. The medical records of these patients were reviewed for clinical, operative, and histopathological features.Main Outcome MeasuresGlobe salvage, best corrected visual acuity (BCVA), surgical side effects, tumor control, and tumor-related metastasis and death.ResultsThe mean follow-up duration was 87 months (median, 66; range, 1-303 months). Among the 366 patients, the mean age was 8.5 years (median, 7; range, 1-19 years) in the 37 pediatric patients, and was 43 years (median, 42; range, 20-51) in 329 adult patients. The tumor mainly involved the ciliary body (n=136; 37.2%) and choroid (n=86; 23.5%). The common pathologic diagnosis of the 366 patients was as follows. In the pediatric age group, histopathologic examination revealed positive tumor margins in 37 patients mainly including ciliary body medulloepithelioma (8/37), ciliary body melanocytoma (13/37) and uveal melanoma (5/37). In the adult group, the pathological diagnosis mainly included melanoma (195/329), RPE adenoma (21/329), amelanotic melanoma (13/329), ciliary body adenoma of nonpigmented epithelium (19/329), schwannoma/neurilemmoma (11/329), melanocytoma (24/329), and leiomyoma (9/329). The globe salvage rate was 81.1% in the pediatric age groups (<20 years), and 93.6% in the adult group (≥20 years), respectively. Of the 338 salvaged eyes, final BCVA was 20/20 to 20/40 in 16 (4.7%), 20/40 to 20/80 in 58 (17.2%), 20/80 to 20/200 in 160 (47.3%), and ≤ 20/200 in 104 (30.8%). Early side effects included corneal edema in 28 (7.7%) patients, hyphema in 46 (12.6%), and vitreous hemorrhage in 76 (21%) patients. Postoperative side effects included proliferative vitreoretinopathy (PVR) in 67 (18.3%), late cataract in 42 (11.5%), and glaucoma in 18 (5%) patients. Local tumor recurrence was detected in 20 patients (5.5%) at a mean interval of 23.6 months, including melanoma (n=19) and medulloepithelioma (n=1). Enucleation was necessary in 28 (7.7%) cases owing to recurrence in 15 (53.6%), eye prophylaxis with high-grade malignancy in 5 (17.8%), and blind painful eye in 8 (28.6%) cases. Kaplan-Meier estimated for 5, 10-year metastasis rate and metastasis-related death rate (95%CI) in 213 UM patients were 3.2% (1.4%-7.0%), 6.9% (3.8%-12.3%); and 3.5% (1.6%-7.6%), 7.6% (4.2%-13.5%), respectively.ConclusionsAs a surgically challenging procedure, PTSU combined with MVRE offers several theoretical advantages over enucleation and radiotherapy. It can achieve control of most intraocular tumors, preserve useful vision, and maintain a cosmetically normal eye.

Rare presentation of ciliary body medulloepithelioma with lens particle-induced uveitis

An 8-year-old girl presented with painless decreased vision and leukocoria in the right eye since 6 days. There was no antecedent history of trauma. Visual acuity in the right eye...

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.

Simple SummaryEye tumors in children are very rare. In Europe, these eye tumors are nearly always diagnosed early and cure rates are high. However, eye tumors in childhood often occur as the first sign of a genetic tumor predisposition syndrome. This study collected data of children with malignant eye tumors diagnosed in five years in Germany and Austria to learn about the association of eye tumors in childhood with tumor predisposition syndrome. The study recruited 300 children with malignant eye tumors in childhood. In the here-presented cohort, more than 40% of eye tumors were associated with rare tumor predisposition syndromes. For this reason, all children with eye tumors and their families should receive genetic counseling for a tumor predisposition syndrome. Children with a genetic predisposition to cancer should receive a tailored surveillance, including detailed history, physical examination and, if indicated, imaging to screen for other cancers later in life.Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.

Successful treatment of ciliary body medulloepithelioma with intraocular melphalan chemotherapy: a case report

BackgroundIntraocular medulloepithelioma is commonly treated with primary enucleation. Conservative treatment options include brachytherapy, local resection and/or cryotherapy in selected cases. We report for the first time the use of targeted chemotherapy to treat a ciliary body medulloepithelioma with aqueous and vitreous seeding.Case presentationA 17-month-old boy with a diagnosis of ciliary body medulloepithelioma with concomitant seeding and neovascular glaucoma in the right eye was seen for a second opinion after parental refusal of enucleation. Examination under anesthesia showed multiple free-floating cysts in the pupillary area associated with iris neovascularization and a subluxated and notched lens. Ultrasound biomicroscopy revealed a partially cystic mass adjacent to the ciliary body between the 5 and 9 o’clock meridians as well as multiple nodules in the posterior chamber invading the anterior vitreous inferiorly. Fluorescein angiography demonstrated peripheral retinal ischemia. Left eye was unremarkable. Diagnosis of intraocular medulloepithelioma with no extraocular invasion was confirmed and conservative treatment initiated with combined intracameral and intravitreal melphalan injections given according to the previously described safety-enhanced technique. Ciliary tumor and seeding totally regressed after a total of 3 combined intracameral (total dose 8.1 μg) and intravitreal (total dose 70 μg) melphalan injections given every 7–10 days. Ischemic retina was treated with cryoablation as necessary. Three years later, ab interno trabeculotomy followed by 360° gonioscopy-assisted transluminal trabeculotomy 6 months later was performed for uncontrolled intraocular pressure despite antihypertensive drugs combined to cyclophotocoagulation and 7 intravitreal anti-VEGF injections for recurrent iris neovascularization. Cataract was removed at the same operative time. The child has remained disease- and metastasis-free at a 5-year follow-up since the last melphalan injection (25-month follow-up after the combined lensectomy-trabeculotomy) with a controlled intraocular pressure under topical quadritherapy and a best corrected Snellen visual acuity of 0.08.ConclusionsWe report for the first time complete regression of a non-infiltrating ciliary body medulloepithelioma with seeding achieved with only a small number of intracameral and intravitreal melphalan injections. Concomitant secondary neovascular glaucoma and cataract needed appropriate management to allow long-term eye and vision preservation.

Glaucoma as the presenting sign of intraocular tumors: beware of the masquerading sign.

To discuss the clinical presentation and management of intraocular tumors masquerading as primary glaucoma or non-tumor-related secondary glaucoma. Retrospective chart review. Ten patients with unsuspected intraocular tumor were referred to glaucoma clinic with a diagnosis of primary glaucoma or non-tumor-related secondary glaucoma. The mean age at referral was 25years (median, 22years; range, 1day to 58years). Referral diagnosis included neovascular glaucoma (n = 6), congenital glaucoma (n = 3), and angle-closure glaucoma (n = 1). The significant clinical signs included corneal edema (n = 3), megalocornea (n = 3), iris neovascularization (n = 4), hyphema (n = 2), and pseudohypopyon (n = 2). The mean interval between the onset of symptoms and the establishment of accurate diagnosis was 4months (median, 3months; range, 0.5-13months). Two patients underwent inadvertent trabeculectomy, and one patient underwent evisceration prior to definitive diagnosis. The final diagnosis included uveal melanocytoma (n = 2), ciliary body medulloepithelioma (n = 2), choroidal melanoma (n = 2), retinoblastoma (n = 1), retinal capillary hemangioblastoma (n = 1), choroidal schwannoma (n = 1), and uveal metastasis (n = 1). The treatment modalities included plaque radiotherapy (n = 1), enucleation (n = 6), palliative systemic chemotherapy (n = 1), a combination of enucleation, systemic chemotherapy, and external beam radiotherapy (n = 1), and one patient was lost to follow-up. There was no evidence of death over a mean follow-up period of 13months (median, 5months; range, 2weeks to 7years). Unilateral raised intraocular pressure, iris neovascularization, or both may be the presenting features of intraocular tumors. High degree of suspicion and a thorough examination reveals the definitive diagnosis.

Imaging of DICER1 syndrome.

DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations in both copies of the gene DICER1, a highly conserved gene that is critically implicated in micro-ribonucleic acid (miRNA) biogenesis and hence modulation of messenger RNAs. In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. About 20 hamartomatous, hyperplastic or neoplastic conditions comprise DICER1 syndrome. Most are not life-threatening, but some are aggressive malignancies. There are many unaffected carriers because penetrance is generally low; however, clinically occult thyroid nodules and lung cysts are frequent. Rare diseases of early childhood were the first recognized conditions in DICER1 syndrome, while other conditions affect adolescents and adults. The hallmarks of DICER1 syndrome are certain rare tumors including pleuropulmonary blastoma; cystic nephroma; ovarian Sertoli-Leydig cell tumor; sarcomas of the cervix, kidneys and cerebrum; pituitary blastoma; ciliary body medulloepithelioma; and nasal chondromesenchymal hamartoma. Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1 syndrome.

An update on the central nervous system manifestations of DICER1 syndrome.

DICER1 syndrome is a rare tumor predisposition syndrome with manifestations that predominantly affect children and young adults. The syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied on the other allele by somatic missense mutations occurring at one of a few mutation hotspots within the sequence encoding the RNase IIIbdomain. DICER1 encodes a member of the microRNA biogenesis machinery. The syndrome spectrum is highly pleiotropic and features a unique constellation of benign and malignant neoplastic and dysplastic lesions. Pleuropulmonary blastoma (PPB), the most common primary lung cancer in children, is the hallmark tumor of the syndrome. Other manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma, in addition to other rare entities. Several central nervous system (CNS) manifestations have also been defined, including metastases of PPB to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, and most recentlyprimary DICER1-associated CNS sarcomas and ETMR-like infantile cerebellar embryonal tumor. Macrocephaly is a recently reported non-neoplastic, haploinsufficient phenotype. In this manuscript, we review the CNS manifestations of DICER1 syndrome.

Retrolental vascular membrane in a case of ciliary body medulloepithelioma: Clinicopathologic correlation

A unilateral nonteratoid malignant ciliary body medulloepithelioma presented in a 13-year-old girl as a leukocoria with an extense vascularized retrolental membrane in her right eye. In this description, clinical documentation, posterior segment ultrasound, and ultrasound biomicroscopy were obtained, and an anatomopathological correlation was made by showing rosettes in some histological cuts stained by haematoxylin and eosin obtained from the mass and the membrane.

DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study

To characterize the ocular phenotype of DICER1 syndrome. Prospective, single-center, case-control study. One hundred three patients with an identified germline pathogenic DICER1 variant (DICER1 carriers) and 69 family control participants underwent clinical and ophthalmic examination at the National Institutes of Health between 2011 and2016. All participants were evaluated with a comprehensive ophthalmic examination, including best-corrected visual acuity, slit-lamp biomicroscopy, and a dilated fundus examination. A subset of patients returned for a more detailed evaluation including spectral-domain OCT, color fundus photography, fundus autofluorescence imaging, visual field testing, full-field electroretinography, and genetic testing for inherited retinal degenerative diseases. Visual acuity and examination findings. Most DICER1 carriers (97%) maintained a visual acuity of 20/40 or better in both eyes. Twenty-three DICER1 carriers (22%) showed ocular abnormalities compared with 4 family controls (6%; P= 0.005). These abnormalities included retinal pigment abnormalities (n= 6 [5.8%]), increased cup-to-disc ratio (n= 5 [4.9%]), optic nerve abnormalities (n= 2 [1.9%]), epiretinal membrane (n= 2 [1.9%]), and drusen (n= 2 [1.9%]). Overall, we observed a significant difference (P= 0.03) in the rate of retinal abnormalities in DICER1 carriers (n= 11 [11%]) versus controls (n= 1 [1.5%]). One patient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance in PRPF31, and 1 showed optic nerve elevation in the setting of increased intracranial pressure (ICP) of unclear cause. Three patients (3%) demonstrated DICER1-related ciliary body medulloepithelioma (CBME), 2 of which were identified during routine examination, a higher rate than that reported previously. Ophthalmologists should be aware of the ophthalmic manifestations of DICER1 syndrome, and individuals and families should be counseled on the potential signs and symptoms. We recommend that children with a germline pathogenic variant in DICER1, especially those younger than 10 years, undergo annual dilated ophthalmic examination, looking for evidence of CBME, signs of increased ICP, and perhaps changes in the retinal pigment epithelium.

DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.

Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International DICER1 Symposium to develop consensus testing and surveillance and treatment recommendations. Attendees from North America, Europe, and Russia provided expert representation from the disciplines of pediatric oncology, endocrinology, genetics, genetic counseling, radiology, pediatric surgery, pathology, and clinical research. Recommendations are provided for genetic testing; prenatal management; and surveillance for DICER1-associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, and central nervous system tumors and gastrointestinal polyps. Risk for most DICER1-associated neoplasms is highest in early childhood and decreases in adulthood. Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches. These testing and surveillance recommendations reflect a consensus of expert opinion and current literature. As DICER1 research expands, guidelines for screening and treatment will continue to be updated. Clin Cancer Res; 24(10); 2251-61. ©2018 AACR.

Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors

Choroid plexus tumors and ciliary body medulloepithelioma are predominantly pediatric neoplasms. Progress in understanding the pathogenesis of these tumors has been hindered by their rarity and lack of models that faithfully recapitulate the disease. Here, we find that endogenous Myc proto-oncogene protein is down-regulated in the forebrain neuroepithelium, whose neural plate border domains give rise to the anterior choroid plexus and ciliary body. To uncover the consequences of persistent Myc expression, MYC expression was forced in multipotent neural precursors (nestin-Cre:Myc), which produced fully penetrant models of choroid plexus carcinoma and ciliary body medulloepithelioma. Nestin-mediated MYC expression in the epithelial cells of choroid plexus leads to the regionalized formation of choroid plexus carcinoma in the posterior domain of the lateral ventricle choroid plexus and the fourth ventricle choroid plexus that is accompanied by loss of multiple cilia, up-regulation of protein biosynthetic machinery, and hydrocephalus. Parallel MYC expression in the ciliary body leads also to up-regulation of protein biosynthetic machinery. Additionally, Myc expression in human choroid plexus tumors increases with aggressiveness of disease. Collectively, our findings expose a select vulnerability of the neuroepithelial lineage to postnatal tumorigenesis and provide a new mouse model for investigating the pathogenesis of these rare pediatric neoplasms.

Congenital malignant ciliary body medullepithelioma in two newborns

PurposeIntraocular medulloepithelioma is an extremely rare unilateral intraocular tumor arising from the nonpigmented ciliary epithelium. Medulloepitheliomas may be classified as benign and malignant and as teratoid and nonteratoid tumors.Ciliary body medulloepithelioma is usually manifesting in early childhood, rarely at birth.Differential diagnosis includes in particular unilateral retinoblastoma. Intraocular medulloepithelioma may also occur as masquerade‐syndrome simulating uveitis.MethodsWe report two new cases of intraocular malignant ciliary body medulloepithelioma in newborns presenting as leucokoria and buphthalmos at birth..ResultsBoth infants were enucleated and diagnosis was confirmed by histopathology.ConclusionsMedulloepithelioma is a rare childhood tumor and should be considered in the differential diagnosis of an intraocular mass in a child.Imaging plays a limited role in differentiating the mass from other solid and cystic ciliary body masses but it is valuable in determining tumor extension and recurrences.Advanced medulloepithelioma at birth with buphthalmos can simulate retinoblastoma and easily be misdiagnosed.

Commentary on the Masquerades of a Childhood Ciliary Body Medulloepithelioma: A Case of Chronic Uveitis, Cataract, and Secondary Glaucoma

Commentary on the Masquerades of a Childhood Ciliary Body Medulloepithelioma: A Case of Chronic Uveitis, Cataract, and Secondary Glaucoma

Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome.

Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.

Aspiration Cytology in Ciliary Body Medulloepithelioma

A 2 year old male child presented to us with progressively enlarging white spot in the left eye for 15 days. The child was not able to perceive light in OS and examination revealed a free floating cyst in the anterior chamber with neovascular glaucoma along with a plaque like lesion in the inferotemporal sclera. Fundus examination showed a flat whitish lesion in the pars plana with glaucomatous optic disc cupping.

Eye wall resections for intraocular tumors: Our experience

We conducted a retrospective review of 11 eyes undergoing eye wall resection between October 1998 and October 2009. The median age of 11 patients was 29 years. Decreased vision (eight) was the most common presenting symptom. Ciliary body medulloepithelioma was the most common clinical diagnosis (six). Medulloepithelioma was the most common histopathological diagnosis (four). The duration of follow-up ranged from 0.5 to 67 months (median 11 months). Three eyes needed to be enucleated in the postoperative period (margin involvement two eyes, recurrence one eye). Postoperative complications among others included retinal detachment (three), vitreous hemorrhage (three), cataract (two), and suprachoroidal hemorrhage (two). To conclude, prognosis of this procedure continues to be guarded needing close postoperative follow-up.

DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Germline mutations in DICER1 are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma (PPB), cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, botryoid embryonal rhabdomyosarcoma of the uterine cervix, ciliary body medulloepithelioma, pineoblastoma, pituitary blastoma and nodular thyroid hyperplasia or thyroid carcinoma. These tumors may be seen in isolation or in constellation with other characteristic tumor types in individuals or family members. Here we describe the medical history of a child with a heterozygous, loss of function germline DICER1 mutation and multiple tumors associated with the syndrome.. Although germline mutations in DICER1 are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlying DICER1 mutation.

Malignant Teratoid Ciliary Body Medulloepithelioma in a Neonate

Ciliary body medulloepithelioma is an intraocular tumor manifesting in early childhood, rarely at birth. A unique case of intraocular malignant teratoid ciliary body medulloepithelioma in a neonate presenting as buphthalmos at birth is reported. There was rapid progression with extraocular extension within 2 months and developed regional lymph node metastasis despite enucleation. The child underwent lymph node dissection and local radiotherapy with complete remission.