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--- medulloepithelioma [2026/03/16 10:09] – created Scott Larson
+++ medulloepithelioma [2026/08/06 21:25] (current) – Scott Larson
@@ Line 1: / Line 1: @@
-====== Meduloepithelioma ======
+====== Medulloepithelioma ======
-FIXME
-====Ciliary Body Meduloepithelioma====
+=====Ciliary Body Medulloepithelioma=====
-a primitive neuroepithelial neoplasm arising from the nonpigmented ciliary epithelium, typically diagnosed in young children with an average age of six years.[2] Patients may present with decreased visual acuity, leukocoria, or new strabismus. On examination, findings include a visible retrolental ciliary body mass, cataract with subluxation, and possible secondary glaucoma.[2] Although histologically malignant, distant metastasis and mortality are rare; when mortality occurs, it typically results from intracranial spread rather than systemic metastases.[2]
+  * Primitive neuroepithelial neoplasm arising from the nonpigmented ciliary epithelium
+  * Typically diagnosed in young children with an average age of six years
+  * Patients may present with decreased visual acuity, leukocoria, or new strabismus.
+  * Findings include a visible retrolental ciliary body mass, cataract with subluxation, and possible secondary glaucoma
+  * Histologically malignant but distant metastasis and mortality are rare; when mortality occurs, it typically results from intracranial spread rather than systemic metastases.
-===DICER1 gene mutations===
+====DICER1 gene mutations====
-==Ciliary body medulloepithelioma (CBME)== is the most significant ocular manifestation of DICER1 syndrome, occurring in approximately **3%** of individuals with germline DICER1 mutations. Additionally, **retinal abnormalities** are found in about **11%** of DICER1 carriers, significantly higher than the 1.5% rate in controls.[1][2]
+===Ciliary body medulloepithelioma (CBME)===
+  * The most significant ocular manifestation of DICER1 syndrome, occurring in approximately **3%** of individuals with germline DICER1 mutations. Additionally,
+  * **Retinal abnormalities** are found in about **11%** of DICER1 carriers, significantly higher than the 1.5% rate in controls.
+  * Prospective study of 103 DICER1 carriers, three patients (3%) had CBME, with two identified during routine examination despite having normal dilated eye exams within one year prior to diagnosis
+  * Both germline and somatic DICER1 mutations have been identified in CBME, with somatic mutations frequently occurring in the RNase IIIb domain
-Importantly, in a prospective study of 103 DICER1 carriers, three patients (3%) had CBME, with two identified during routine examination despite having normal dilated eye exams within one year prior to diagnosis.[1] This highlights the importance of regular surveillance. Both germline and somatic DICER1 mutations have been identified in CBME, with somatic mutations frequently occurring in the RNase IIIb domain.[3][4]
+===Retinal and Other Ocular Abnormalities===
-==Retinal and Other Ocular Abnormalities==
+Beyond CBME, DICER1 carriers show a significantly increased rate of retinal abnormalities (11%) compared to family controls (1.5%).
+These include:
-Beyond CBME, DICER1 carriers show a significantly increased rate of retinal abnormalities (11%) compared to family controls (1.5%).[1][2] These include:
+  * **Retinal pigment abnormalities** (5.8%)
+  * **Increased cup-to-disc ratio** (4.9%)
+  * **Epiretinal membranes** (1.9%)
+  * **Optic nerve abnormalities** (1.9%)
+  * **Drusen** (1.9%)
+  * **Retinitis pigmentosa** (rare)
-- **Retinal pigment abnormalities** (5.8%)
+One patient showed optic nerve elevation in the setting of increased intracranial pressure of unclear cause. Despite these findings, most DICER1 carriers (97%) maintain visual acuity of 20/40 or better in both eyes.
-- **Increased cup-to-disc ratio** (4.9%)
-- **Epiretinal membranes** (1.9%)
-- **Optic nerve abnormalities** (1.9%)
-- **Drusen** (1.9%)
-- **[Retinitis pigmentosa](https://www.openevidence.com/rare-disease/retinitis-pigmentosa)** (rare)[1][2]
-One patient showed optic nerve elevation in the setting of increased intracranial pressure of unclear cause.[1] Despite these findings, most DICER1 carriers (97%) maintain visual acuity of 20/40 or better in both eyes.[1]
+===Surveillance Recommendations===
-## Surveillance Recommendations
+Current recommendations suggest that children with germline pathogenic DICER1 variants, especially those younger than 10 years, should undergo **annual dilated ophthalmic examination** to screen for CBME, signs of increased intracranial pressure, and retinal pigment epithelium changes
-Current recommendations suggest that children with germline pathogenic DICER1 variants, especially those younger than 10 years, should undergo **annual dilated ophthalmic examination** to screen for CBME, signs of increased intracranial pressure, and retinal pigment epithelium changes.[1][2]
+===== References =====
-Would you like me to explore the surveillance protocols and management strategies for DICER1 syndrome more broadly, including screening for other associated tumors?
+  - [[https://pmc.ncbi.nlm.nih.gov/articles/PMC6348055/|DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Huryn LA, Turriff A, Harney LA, et al. Ophthalmology. 2019;126(2):296-304]]
+  - [[https://www.ncbi.nlm.nih.gov/books/NBK196157/|DICER1 Tumor Predisposition. Schultz KAP, Stewart DR, Kamihara J, et al. GeneReviews®. Updated 2020 Apr 30]]
-==== References ====
+  - [[https://onlinelibrary.wiley.com/doi/10.1002/gcc.22344|Somatic Mutations of DICER1 and KMT2D Are Frequent in Intraocular Medulloepitheliomas. Sahm F, Jakobiec FA, Meyer J, et al. Genes, Chromosomes & Cancer. 2016;55(5):418-27]]
+  - [[https://pubmed.ncbi.nlm.nih.gov/25791583/|Somatic DICER1 Gene Mutation in Sporadic Intraocular Medulloepithelioma Without Pleuropulmonary Blastoma Syndrome. Durieux E, Descotes F, Nguyen AM, Grange JD, Devouassoux-Shisheboran M. Human Pathology. 2015;46(5):783-7]]
-. DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study. Huryn LA, Turriff A, Harney LA, et al. Ophthalmology. 2019;126(2):296-304. doi:10.1016/j.ophtha.2018.09.038.
-. DICER1 Tumor Predisposition. Schultz KAP, Stewart DR, Kamihara J, et al. GeneReviews® [Internet]. Updated 2020 Apr 30.
-. Somatic Mutations of DICER1 and KMT2D Are Frequent in Intraocular Medulloepitheliomas. Sahm F, Jakobiec FA, Meyer J, et al. Genes, Chromosomes & Cancer. 2016;55(5):418-27. doi:10.1002/gcc.22344.
-. Somatic DICER1 Gene Mutation in Sporadic Intraocular Medulloepithelioma Without Pleuropulmonary Blastoma Syndrome. Durieux E, Descotes F, Nguyen AM, Grange JD, Devouassoux-Shisheboran M. Human Pathology. 2015;46(5):783-7. doi:10.1016/j.humpath.2015.01.020.