MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma
Background MYCN-amplified RB1 wild-type (MYCN A RB1+/+) retinoblastoma is a rare but
clinically important subtype of retinoblastoma due to its aggressive character and relative …
clinically important subtype of retinoblastoma due to its aggressive character and relative …
[HTML][HTML] High-level MYCN-amplified RB1-proficient retinoblastoma tumors retain distinct molecular signatures
K Roohollahi, Y de Jong, SE van Mil, AWM Fabius… - Ophthalmology …, 2022 - Elsevier
Purpose Retinoblastomas are malignant eye tumors diagnosed in young children. Most
retinoblastomas are genetically characterized by biallelic inactivation of the RB1 gene …
retinoblastomas are genetically characterized by biallelic inactivation of the RB1 gene …
[HTML][HTML] Loss of photoreceptorness and gain of genomic alterations in retinoblastoma reveal tumor progression
IE Kooi, BM Mol, AC Moll, P van der Valk… - …, 2015 - thelancet.com
Background Retinoblastoma is a pediatric eye cancer associated with RB1 loss or MYCN
amplification (RB1+/+ MYCN A). There are controversies concerning the existence of …
amplification (RB1+/+ MYCN A). There are controversies concerning the existence of …
[HTML][HTML] A rapid and sensitive next-generation sequencing method to detect RB1 mutations improves care for retinoblastoma patients and their families
WL Li, J Buckley, PA Sanchez-Lara, DT Maglinte… - The Journal of Molecular …, 2016 - Elsevier
Retinoblastoma is a childhood eye malignancy that can lead to the loss of vision, eye (s),
and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the …
and sometimes life. The tumors are initiated by inactivating mutations in both alleles of the …
Role of MYCN in retinoblastoma: A review of current literature
VS Vempuluru, A Maniar, K Bakal, S Kaliki - Survey of Ophthalmology, 2024 - Elsevier
Chromosomal abnormalities that involve the MYCN gene are rare; however, it is one of the
most commonly mutated genes in retinoblastoma (RB) after the RB1 gene. MYCN is …
most commonly mutated genes in retinoblastoma (RB) after the RB1 gene. MYCN is …
Secondary enucleated retinoblastoma with MYCN amplification
AP Moulin, C Stathopoulos, F Marcelli… - Ophthalmic …, 2021 - Taylor & Francis
Background: Absence of RB1 mutation is rare in retinoblastoma and MYCN amplifications
were recently identified in a subset of aggressive retinoblastomas occurring in infants. Here …
were recently identified in a subset of aggressive retinoblastomas occurring in infants. Here …
MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification
EA Price, R Patel, I Scheimberg… - Ophthalmic …, 2021 - Taylor & Francis
ABSTRACT Background: Retinoblastoma (Rb) is a childhood tumor of the developing retina
where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA) …
where predisposition is caused by RB1 pathogenic variants. MYCN amplification (MYCNA) …
[HTML][HTML] Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies
DE Rushlow, BM Mol, JY Kennett, S Yee… - The lancet …, 2013 - thelancet.com
Background Retinoblastoma is the childhood retinal cancer that defined tumour-suppressor
genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma …
genes. Previous work shows that mutation of both alleles of the RB1 retinoblastoma …
[HTML][HTML] Next-generation technologies and strategies for the management of retinoblastoma
HV Gudiseva, JL Berry, A Polski, SJ Tummina… - Genes, 2019 - mdpi.com
Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1
gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances …
gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances …
Retinoblastoma, the visible CNS tumor: a review
The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor
readily observed without specialized equipment: it can be seen by, and in, the naked eye …
readily observed without specialized equipment: it can be seen by, and in, the naked eye …