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An Approach to Visual Loss in a Child
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Muhammad Hassaan Ali, Stacy L. Pineles
This the most common malignancy in early childhood that presents with leukocoria, esotropia or uveitis is retinoblastoma. Any patient with leukocoria should undergo dilated fundus examination with B-scan ultrasonography of the eye and subsequent orbital imaging to reach the final diagnosis. Retinoblastoma produces characteristic calcifications which are visible on B-scan of the eye. Early detection leads to better treatment with chemotherapy and globe preservation, whereas larger legions need enucleation after which a prosthesis is implanted in the child's eye.
Febrile seizures
Published in Samar Razaq, Difficult Cases in Primary Care, 2021
Which of the following statements regarding retinoblastoma are true? Retinoblastoma is the commonest primary ocular tumour in children.Retinoblastoma is a life-threatening condition, with an approximately 50% mortality rate in the first year in the UK.The diagnosis of retinoblastoma is delayed in most cases.A new-onset strabismus may be a sign of a retinoblastoma.Children with an inherited form of retinoblastoma are at an increased risk of developing non-ocular cancers later in life.
Soft Tissue Sarcomas
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Thomas F. DeLaney, David C. Harmon, Karol Sikora, Francis J. Hornicek
This is further supported by the analysis of 1,458 patients followed after treatment for retinoblastoma for 17 years. The cumulative mortality from second primary neoplasms at 40 years was 26% and 1.5% among patients with bilateral and unilateral disease, respectively.18 Within the bilateral population, the figures were 30% and 6.4% for irradiated and non-irradiated patients. For sarcomas (including those which arose within and without the irradiated field), the observed/expected ratios were 61% and 22% for patients with bilateral disease. The comparable figures for patients with unilateral disease were 5% and 2%. There was a difference in the use of chemotherapy in patients treated for bilateral and unilateral retinoblastoma, 48% and 13%, respectively. Chemotherapeutic agents are likewise associated with risks of sarcoma induction. For example, there are two reports describing the appearance of osteosarcoma in children treated for leukemia by drugs without radiation therapy.
Evaluating the baseline survival outcomes of the “six Global Initiative for Childhood Cancer index cancers” in Africa
Published in Pediatric Hematology and Oncology, 2023
Jaques van Heerden, Joyce Balagadde-Kambugu, Racheal Angom, Rebecca Claire Lusobya, Guillermo Chantada, Laurence Desjardins, Ido Didi Fabian, Trijn Israels, Vivian Paintsil, Laila Hessissen, Mame Ndella Diouf, Moatasem Elayadi, Suzanne D. Turner, Francine Kouya, Jennifer A. Geel
A systematic review of children with retinoblastoma from 24 (44.4%) African countries over three decades, including 3,174 patients, reported a wide range of survival rates between 23% and 100%, with a mean of 61%.43 A recent meta-analysis of retinoblastoma survival from 73 countries, including 10 African countries representing 19% of African countries), reported an overall increase in OS from 79% to 88% during the last four decades. However, wide disparities were observed: HIC had much higher survival rates compared to LIC and survival gaps were mainly observed in SSA.44 During the same period, retinoblastoma survival rates for Africa increased from 32% to 74%.44 None of these data were from national studies and the retinoblastoma capture rate was not indicated. It is likely that these data are not truly representative of Africa. Therefore, establishing representative survival and improvement outcomes for retinoblastoma in Africa becomes difficult.
Liquid biopsy in Retinoblastoma: A review
Published in Seminars in Ophthalmology, 2022
Cancer cells harbour deviations from normal karyotype and these deviations range from complete or partial losses or gains of chromosomes, inversions, translocations or more complex rearrangements. Translocations, inversions, and complex rearrangements are referred as structural variants (SV), while gains or losses of small chromosomal regions larger than 10 kilobases are referred to as copy number alterations (CNA). CNAs arising in a somatic cell post-zygotically are called somatic CNAs or SCNAs. CNAs which occur in the germline are known as copy number variants (CNV).24 Retinoblastoma develops due to biallelic inactivation of the RB1 gene, usually from single nucleotide variants (SNV) or InDels. In addition, SCNAs are thought to contribute to tumor growth and progression. Xu et al found that both RB1 mutation and SCNAs could be identified simultaneously through the in vivo liquid biopsy of AH.10 Variant allele frequency (VAF) refers to the ratio of number of mutant molecules and total number of wild-type molecules at a specific location in the genome25 and it has been hypothesized that VAF would act as a surrogate marker for tumor burden and be inversely correlated with the prognosis. This negative correlation was also found by the New York Oncology team.23
Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma
Published in Ophthalmic Genetics, 2022
Kenji Nakamichi, Andrew Stacey, Debarshi Mustafi
Retinoblastoma has a profound effect on the lives of patients and families affected and given the lifelong risk of secondary malignancies, early diagnosis and intervention are an essential step to improve morbidity and mortality. The genetic information obtained from the approaches outlined in this work can potentially lead to fewer invasive procedures, earlier diagnosis and earlier treatment decision making, and improved outcomes in patients at risk of developing RB. Incorporating rapid, non-invasive genetic testing as part of standard RB-care has significant advantages that would revolutionize our clinical approach in the neonatal population. This information is invaluable for not only the patient, but future family planning as it provides inheritance pattern information all from one sequencing run. By genetically phasing an individual genome, long-read data can be partitioned into two parental genome datasets that can be independently assembled to evaluate whether variants are in cis or trans configuration. The ability to produce fast, reliable results of RB in a neonate will greatly impact care in this vulnerable patient population and will provide a more definitive diagnosis of heritable RB and guide management decisions for patients and their families. Application of existing machine learning tools to rank the identified variants (30,31) will allow prioritization of the top candidates for future cell-based stem cell work to develop patient-specific therapeutic interventions (46).