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DICER1 and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies.
Schultz KAP, Williams GM, Kamihara J, Stewart DR, Harris AK, Bauer AJ, Turner J, Shah R, Schneider K, Schneider KW, Carr AG, Harney LA, Baldinger S, Frazier AL, Orbach D, Schneider DT, Malkin D, Dehner LP, Messinger YH, Hill DA. Schultz KAP, et al. Clin Cancer Res. 2018 May 15;24(10):2251-2261. doi: 10.1158/1078-0432.CCR-17-3089. Epub 2018 Jan 17. Clin Cancer Res. 2018. PMID: 29343557 Free PMC article. Review.
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 Wi …
In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertol …
DICER1 Syndrome.
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J. Hořínová V, et al. Klin Onkol. 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. Klin Onkol. 2019. PMID: 31409088 English.
In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nephroma, nodular dysplasia of the thyroid gland, medulloepithelioma of the iris, embryonal rhabdomyosarcoma botryoid type, nasal epithe …
In approximately 35% of families with children manifesting PPB, further (and rather rare) malignancies may be observed, including cystic nep …
Usefulness of PAX8 Immunohistochemistry in Adult Intraocular Tumor Diagnosis.
Mudhar HS, Milman T, Eagle RC Jr, Sanderson T, Pheasey L, Paine S, Salvi S, Rennie IG, Rundle P, Shields CL, Shields JA. Mudhar HS, et al. Ophthalmology. 2021 May;128(5):765-778. doi: 10.1016/j.ophtha.2020.09.033. Epub 2020 Sep 29. Ophthalmology. 2021. PMID: 33002562
The ciliary body epithelial and neuroepithelial tumors (adenoma, adenocarcinoma, and medulloepithelioma) showed uniform strong nuclear PAX8 immunoreactivity. ...The uniformity of the PAX8 staining was superior to the variable cytokeratin staining in the ciliary epithelial …
The ciliary body epithelial and neuroepithelial tumors (adenoma, adenocarcinoma, and medulloepithelioma) showed uniform strong nuclea …
Intraocular medulloepithelioma - A review of clinical features, DICER 1 mutation, and management.
Tadepalli SH, Shields CL, Shields JA, Honavar SG. Tadepalli SH, et al. Indian J Ophthalmol. 2019 Jun;67(6):755-762. doi: 10.4103/ijo.IJO_845_19. Indian J Ophthalmol. 2019. PMID: 31124483 Free PMC article. Review.
Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. ...
Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. ...
Brain and Spinal Cord Tumors of Embryonic Origin.
Lampros M, Alexiou GA. Lampros M, et al. Adv Exp Med Biol. 2023;1405:405-420. doi: 10.1007/978-3-031-23705-8_15. Adv Exp Med Biol. 2023. PMID: 37452947
Currently, the neoplasms classified as ET are the medulloblastoma (MB), embryonal tumors with multilayered rosettes (ETMR), medulloepithelioma (ME), CNS neuroblastoma (NB), CNS ganglioneuroblastoma (GNB), atypical teratoid/rhabdoid tumors (AT/RT), and CNS embryonal tumors …
Currently, the neoplasms classified as ET are the medulloblastoma (MB), embryonal tumors with multilayered rosettes (ETMR), medulloepithe
Conventional, diffusion, and permeability MR findings in ocular medulloepithelioma.
Galluzzi P, Casseri T, Cerase A, Guglielmucci D, Toti P, Hadjistilianou T. Galluzzi P, et al. Neuroradiology. 2018 Nov;60(11):1213-1222. doi: 10.1007/s00234-018-2094-1. Epub 2018 Sep 19. Neuroradiology. 2018. PMID: 30232518
PURPOSE: To describe the neuroradiological features of intraocular medulloepithelioma. METHODS: We retrospectively analyzed the clinical, histopathological, and MRI data of five children with medulloepithelioma. ...Permeability parameters in differential diagnosis w …
PURPOSE: To describe the neuroradiological features of intraocular medulloepithelioma. METHODS: We retrospectively analyzed the clini …
Systemic adjuvant chemotherapy for advanced malignant ocular medulloepithelioma.
Sheriff IHN, Karaa EK, Chowdhury T, Scheimberg I, Duncan C, Reddy MA, Sagoo MS. Sheriff IHN, et al. Eye (Lond). 2023 Apr;37(5):947-952. doi: 10.1038/s41433-022-01936-4. Epub 2022 Feb 1. Eye (Lond). 2023. PMID: 35105935 Free PMC article.
BACKGROUND: Ocular medulloepithelioma (diktyoma) is a rare and potentially malignant paediatric tumour of the non-pigmented ciliary epithelium. ...The aim was to identify whether adjuvant chemotherapy offers treatment benefit in advanced ocular medulloepithelioma. M …
BACKGROUND: Ocular medulloepithelioma (diktyoma) is a rare and potentially malignant paediatric tumour of the non-pigmented ciliary e …
C19MC amplification and expression of Lin28A and Olig2 in the classification of embryonal tumors of the central nervous system: A 14-year retrospective study from a tertiary care center.
Nambirajan A, Gurung N, Suri V, Sarkar C, Kumar A, Singh M, Sharma MC. Nambirajan A, et al. Childs Nerv Syst. 2021 Apr;37(4):1067-1075. doi: 10.1007/s00381-020-04973-0. Epub 2020 Nov 24. Childs Nerv Syst. 2021. PMID: 33236184
The selected CETs (case cohort) and 79 histological mimics (comparison cohort) comprising of MB, AT/RT, pineal parenchymal tumors, Ewing sarcoma, esthesioneuroblastoma, intraocular medulloepithelioma, and H3G34R mutant high-grade glioma were subject to IHC for Olig2 and Li …
The selected CETs (case cohort) and 79 histological mimics (comparison cohort) comprising of MB, AT/RT, pineal parenchymal tumors, Ewing sar …
Soft tissue sarcomas of childhood: the differential diagnostic dilemma of the small blue cell.
Dehner LP. Dehner LP. Natl Cancer Inst Monogr. 1981 Apr;(56):43-59. Natl Cancer Inst Monogr. 1981. PMID: 6272117 Review.
Some of the diagnostic terms applied to this category are "neuroepithelioma," "medulloepithelioma," and "peripheral neuroblastoma." Because most of these tumors are hormonally inactive and electron microscopy is not performed, the diagnosis is infrequently considered or pr …
Some of the diagnostic terms applied to this category are "neuroepithelioma," "medulloepithelioma," and "peripheral neuroblastoma." B …
Intraocular medulloepithelioma: an unusual and challenging entity in paediatric population.
Imam U, Hameed M, Anis I, Bhutto I, Ahmed SH, Rizvi A, Ahmad Z. Imam U, et al. J Pak Med Assoc. 2023 Dec;73(12):2469-2472. doi: 10.47391/JPMA.8253. J Pak Med Assoc. 2023. PMID: 38083935 Free article.
Intraocular medulloepithelioma is a rare, congenital tumour of the non-pigmented ciliary epithelium. ...Histopathology revealed the diagnosis of 'malignant teratoid medulloepithelioma'. Therefore, evaluation of systemic associations for DICER1 gene mutations was per …
Intraocular medulloepithelioma is a rare, congenital tumour of the non-pigmented ciliary epithelium. ...Histopathology revealed the d …
61 results