Retinoblastoma: Recent trends A mini review based on published literature

Khetan, Vikas; Gupta, Aditi; Gopal, Lingam

doi:10.4103/0974-620x.91265

Cited by 12 publications

(12 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As this procedure becomes increasingly integrated into the treatment strategy for infants, therefore, assessment of risk becomes essential. 17,20,[28][29][30]32 In the remaining patients (without retinoblastoma), 8 procedures were performed for the assessment of vascular malformations, 2 for possible tumor embolization, 4 for assessment of stroke, and 3 for assessment of the etiology of intracranial hemorrhage. In these cases in which 4-vessel angiography was used, there was no increase in complications to indicate that the risk for vasospasm, dissection, or access-related events were higher.…”

Section: Discussionmentioning

confidence: 99%

Complications of cerebral angiography in children younger than 3 years of age

Hoffman¹,

Santillán²,

Rotman³

et al. 2014

PED

View full text Add to dashboard Cite

Object The therapeutic potential for cerebral angiography (CA) in young children is expanding. However, its use in this patient population is limited by presumed higher complication rates among children. Therefore, to improve the accuracy of counseling of the parents/guardians of these patients and to identify modifiable risk factors, the authors evaluated complications after CA in young children. Methods The authors reviewed data for 309 consecutive cerebral angiograms obtained in 87 children younger than 36 months of age from 2004 to 2010 at a single institution. They analyzed demographics, diagnosis, angiographic findings, and complications. Results The patient population comprised 40 boys and 47 girls; mean age was 14.36 months (range 1–36 months) and mean weight was 10.8 kg (range 3.7–21.0 kg). For 292 of the 309 procedures, intraarterial chemotherapy was administered; the remaining 17 procedures were for vascular malformations, stroke, tumor embolization, and intracranial hemorrhage. The rate of neurological complications was 0.0%. The rate of nonneurological complications was 2.9%: 7 cases of contrast allergy or bronchospasm, 1 groin hematoma (body weight 7 kg), and 1 transient femoral artery occlusion (body weight 10.8 kg). The rate of radiographic complications was 1.3%: 1 case of transient asymptomatic intraarterial dissection and 3 cases of asymptomatic vasospasm. Postprocedural MRI was performed for 33.3% of patients with no evidence of ischemia. There were no delayed complications. Mean follow-up time was 16.6 months. No association was found between complications and age, duration of anesthesia, number of vessels catheterized, size of the sheath, or diagnostic versus interventional procedures. Despite a trend toward a higher rate of complications for patients who weighed less than 15 kg, this finding was not significant (p = 0.35). Conclusions The rate of complications for CA in young children is comparable to rates reported for older children and lower than rates reported for adults. When appropriately indicated, CA should not be omitted from the therapeutic strategy of children younger than 36 months of age.

show abstract

Section: Discussionmentioning

confidence: 99%

Complications of cerebral angiography in children younger than 3 years of age

Hoffman¹,

Santillán²,

Rotman³

et al. 2014

PED

View full text Add to dashboard Cite

show abstract

“…RE stage is the classification of intraocular RB to show prognostic significance for maintenance of sight when enucleation and EBRT were primary treatment options7-12). Ophthalmologists examined the tumor status, RE stage, and assessed the need for focal therapy.…”

Section: Methodsmentioning

confidence: 99%

Combined chemotherapy and intra-arterial chemotherapy of retinoblastoma

et al. 2013

View full text Add to dashboard Cite

PurposeRetinoblastoma (RB) is the most common primary malignant intraocular tumor in children. Although systemic chemotherapy has been the primary treatment, intra-arterial chemotherapy (IAC) represents a new treatment option. Here, we performed alternate systemic chemotherapy and IAC and retrospectively reviewed the efficacy and safety of this approach.MethodsPatients diagnosed with intraocular RB between January 2000 and December 2011 at Severance Children's Hospital, Yonsei University, were reviewed. Before February 2010, the primary treatment for RB was chemotherapy (non-IAC/CTX). Since February 2010, the primary treatment for RB has been IAC (IAC/CTX). External beam radiotherapy or high-dose chemotherapy were used as "last resort" treatments just prior to enucleation at the time of progression or recurrence during primary treatment. Enucleation-free survival (EFS) and progression-free survival were assessed.ResultsWe examined 19 patients (median age, 11.9 months; range, 1.4 to 75.6 months) with a sum of 25 eyes, of which, 60.0% were at advanced Reese Ellsworth (RE) stages. The enucleation rate was 33.3% at early RE stages and 81.8% at advanced RE stages (P=0.028). At 36 months, EFS was significantly higher in the IAC/CTX group than in the non-IAC/CTX group (100% vs. 40.0%, P=0.016). All 5 patients treated with IAC achieved eye preservation, although most patients were at advanced RE stages (IV-V).ConclusionDespite the limitation of a small sample size, our work shows that an alternative combined approach using IAC and CTX may be safe and effective for eye preservation in advanced RB.

show abstract

“…The retinoblastoma gene (RB1) gene (MIM 180200) (3, 4) located on chromosome 13q14, consists of 27 exons (3,4,8,(11)(12)(13)(14). It is a tumor suppressor gene and in its absence, chromosomal aberrations accumulate leading to tumor initiation, progression, and ultimately metastasis (6,(15)(16)(17)(18)(19)(20). About one third of RB tumours are hereditary and bilateral, with a median age of one year at diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Ibrahim

Saleem

Eltayeb³

et al. 2019

Preprint

View full text Add to dashboard Cite

BACKGROUND: Retinoblastoma (RB), the commonest early childhood intraocular tumor, is most often related to mutations in the RB1 gene with an incidence of 3% of all pediatric tumors. It has good prognosis if diagnosed early but it is life-threatening when diagnosed late. OBJECTIVE: To study the Molecular Genetic Analysis of Retinoblastoma (RB) in Sudanese families. METHODS: Thirty one (n=31) clinically and histopathologically diagnosed cases of RB attending Makkah Eye Complex (MEC) Orbit clinic (Khartoum, Sudan) were included in this Molecular Genetic RB Analysis. Fresh blood samples extracted from seven RB patients and 15 close families for DNA extraction and PCR were sent for Genetic Sequencing and In silico approach for "Exon 18 mutations" which is one of the highly mutated exons worldwide. RESULTS: The majority of patients (41.9%) were below five years old. Females were 58.1%, males were 41.9%. Leukocoria was the commonest sign at presentation (41.9%). RB Unilaterality were in (77.4%) while Bilaterality in 19.4%. Both eyes were equally affected 50% each. The age at diagnosis time ranged from 0.02 to five years. Consanguinity of parents was very high (85.7%), the 1 st degree cousins were less (28.6%) while the 2 nd degree was high (57.1%). The patients' ethnic background and geographical area were from seven different tribes; all belong to the Western Sudan. The molecular genetic study showed that exon 18 was free of mutation among the seven patients + their three relatives. The Functional Analysis and (SNPs) prediction study of exon 18 from NCBI data base showed that the various computational approaches used (SIFT, PolyPhen-2, I-mutant and Project hope) identified 16 reported mutations worldwide, three of which (rs137853292, rs375645171 and rs772068738) are major nsSNPs (non-synonymous) which might contribute to native RB1 protein malfunction and ultimately causing carcinoma. CONCLUSION: RB mainly affected children under five years and both sexes are equally affected. Unilaterality was predominant. Consanguinity plays a role in inheritance and the majority of patients were from Western Sudan. The most commonly detected deleterious mutations worldwide in exon 18 were not found in the Sudanese studies samples. Further screening for the highly reported mutations in exons 8, 10 and 14 or Next Generation Sequencing (NGS) are recommended. In silico tools are useful in studying the functional analysis of SNPs.

show abstract

Retinoblastoma: Recent trends A mini review based on published literature

Cited by 12 publications

References 100 publications

Complications of cerebral angiography in children younger than 3 years of age

Complications of cerebral angiography in children younger than 3 years of age

Combined chemotherapy and intra-arterial chemotherapy of retinoblastoma

Molecular Genetic Analysis ofRB1gene among Sudanese children with Retinoblastoma

Contact Info

Product

Resources

About