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European Journal of Ophthalmology Nov 2021Most cases of retinoblastoma are diagnosed before the age of 5 years. The cases in older age groups can have variable presentations leading to misdiagnosis and...
Most cases of retinoblastoma are diagnosed before the age of 5 years. The cases in older age groups can have variable presentations leading to misdiagnosis and management challenges. We report a case of retinoblastoma in an 8-year-old female who was primarily referred as a case of sympathetic ophthalmia due to a co-incidental misleading history of penetrating eye injury to other eye 3 weeks prior. The patient complained of decreased vision in the left eye after 3 weeks of repair of the corneo-scleral laceration in the right eye. Visual acuity in the right and left eye was 3/60 and light perception respectively. The anterior segment examination showed moderate sized keratic precipitates, intense inflammatory cellular reaction with large fluffy cells, hypopyon and dense vitreous exudates. Ultrasonography showed abundant hyperechoic contents within the vitreous cavity in the left globe. The retino-choroid was thickened. The possibility of endophthalmitis and sympathetic ophthalmia was considered. Diagnostic vitrectomy was planned. Intraoperatively, after clearing the exudates, a yellowish white mass lesion was seen superiorly. Post- operatively contrast-enhanced MRI scan confirmed the presence of an enhancing mass lesion in the globe consistent with the diagnosis of intraocular retinoblastoma. Enucleation of left globe was done after chemotherapy. Thus, a high risk of suspicion has to be kept for this malignant tumour in children with unexplained visual loss.
Topics: Child; Eye Injuries, Penetrating; Female; Humans; Retinal Neoplasms; Retinoblastoma; Retrospective Studies; Vitrectomy
PubMed: 32613860
DOI: 10.1177/1120672120939388 -
Anti-cancer Drugs Jun 2022Retinoblastoma is a familial inherited embryonic neuroretinal malignancy with a low survival rate and poor prognosis. Our study aimed to evaluate the potential...
Retinoblastoma is a familial inherited embryonic neuroretinal malignancy with a low survival rate and poor prognosis. Our study aimed to evaluate the potential interaction between microRNA miR-657 and the peroxisome proliferator-activated receptor alpha (PPARA) in retinoblastoma. Expression of miR-657 and PPARA was analyzed in retinoblastoma tissues and cells using RT-qPCR. Cell proliferation, apoptosis, and migration were measured in retinoblastoma cell lines, and xenografting experiments were performed using nude mice. Our study showed that miR-657 expression was markedly increased, whereas that of PPARA was markedly decreased in retinoblastoma. Additionally, PPARA knockdown enhanced the development of retinoblastoma. miR-657 enhanced the retinoblastoma tumorigenesis by directly inhibiting PPARA expression, suggesting that PPARA targeting by miR-657 facilitates retinoblastoma development by enhancing cell growth. This study provides novel insights into the miR-657- and PPARA-mediated mechanisms underlying retinoblastoma progression and suggests that the interaction between miR-657 and PPARA may serve as an effective target for therapeutic intervention.
Topics: Animals; Apoptosis; Cell Line, Tumor; Cell Movement; Cell Proliferation; Gene Expression Regulation, Neoplastic; Heterografts; Humans; Mice; Mice, Nude; MicroRNAs; PPAR alpha; Retinal Neoplasms; Retinoblastoma
PubMed: 35324527
DOI: 10.1097/CAD.0000000000001308 -
Pharmacology & Therapeutics Aug 2023Ocular cancers represent a rare pathology. The American Cancer Society estimates that 3,360 cases of ocular cancer occur annually in the United States. The major types... (Review)
Review
Ocular cancers represent a rare pathology. The American Cancer Society estimates that 3,360 cases of ocular cancer occur annually in the United States. The major types of cancers of the eye include ocular melanoma (also known as uveal melanoma), ocular lymphoma, retinoblastoma, and squamous cell carcinoma. While uveal melanoma is one of the primary intraocular cancers with the highest occurrence in adults, retinoblastoma remains the most common primary intraocular cancer in children, and squamous cell carcinoma presents as the most common conjunctival cancer. The pathophysiology of these diseases involves specific cell signaling pathways. Oncogene mutations, tumor suppressor mutations, chromosome deletions/translocations and altered proteins are all described as causal events in developing ocular cancer. Without proper identification and treatment of these cancers, vision loss, cancer spread, and even death can occur. The current treatments for these cancers involve enucleation, radiation, excision, laser treatment, cryotherapy, immunotherapy, and chemotherapy. These treatments present a significant burden to the patient that includes a possible loss of vision and a myriad of side effects. Therefore, alternatives to traditional therapy are urgently needed. Intercepting the signaling pathways for these cancers with the use of naturally occurring phytochemicals could be a way to relieve both cancer burden and perhaps even prevent cancer occurrence. This research aims to present a comprehensive review of the signaling pathways involved in various ocular cancers, discuss current therapeutic options, and examine the potential of bioactive phytocompounds in the prevention and targeted treatment of ocular neoplasms. The current limitations, challenges, pitfalls, and future research directions are also discussed.
Topics: Adult; Child; Humans; Retinoblastoma; Eye Neoplasms; Signal Transduction; Carcinoma, Squamous Cell; Retinal Neoplasms
PubMed: 37330112
DOI: 10.1016/j.pharmthera.2023.108479 -
Asia-Pacific Journal of Ophthalmology... 2024Retinoblastoma, the primary ocular malignancy in pediatric patients, poses a substantial threat to mortality without prompt and effective management. The prognosis for... (Review)
Review
Retinoblastoma, the primary ocular malignancy in pediatric patients, poses a substantial threat to mortality without prompt and effective management. The prognosis for survival and preservation of visual acuity hinges upon the disease severity at the time of initial diagnosis. Notably, retinoblastoma has played a crucial role in unraveling the genetic foundations of oncogenesis. The process of tumorigenesis commonly begins with the occurrence of biallelic mutation in the RB1 tumor suppressor gene, which is then followed by a cascade of genetic and epigenetic alterations that correspond to the clinical stage and pathological features of the tumor. The RB1 gene, recognized as a tumor suppressor, encodes the retinoblastoma protein, which plays a vital role in governing cellular replication through interactions with E2F transcription factors and chromatin remodeling proteins. The diagnosis and treatment of retinoblastoma necessitate consideration of numerous factors, including disease staging, germline mutation status, family psychosocial factors, and the resources available within the institution. This review has systematically compiled and categorized the latest developments in the diagnosis and treatment of retinoblastoma which enhanced the quality of care for this pediatric malignancy.
Topics: Retinoblastoma; Humans; Retinal Neoplasms; Disease Management
PubMed: 38615905
DOI: 10.1016/j.apjo.2024.100058 -
Indian Journal of Ophthalmology Feb 2023To evaluate the efficacy of secondary and salvage intra-arterial chemotherapy (IAC) as a globe salvage treatment modality in advanced and refractory intraocular...
PURPOSE
To evaluate the efficacy of secondary and salvage intra-arterial chemotherapy (IAC) as a globe salvage treatment modality in advanced and refractory intraocular retinoblastoma.
METHODS
A retrospective chart review of advanced intraocular retinoblastoma (groups D and E International Classification of Retinoblastoma [ICRB] classification) patients refractory to intravenous chemotherapy (IVC) and undergoing IAC as the secondary and salvage treatment modality between December 2018 and June 2021 was carried out. All patients underwent the IAC procedure by super-selective ophthalmic artery catheterization and with triple-drug chemotherapeutic agents of melphalan, topotecan, and carboplatin. Data were collected about tumor regression, eye salvage, metastasis, and survival outcome at follow-up.
RESULTS
Out of 13 patients, 12 patients received secondary IAC after being primarily treated with IVC and focal therapies and one patient received rescue IAC after recurrence following primary IAC. Mean number of IAC cycles administered was 2. Overall, globe salvage rate was 53.84%, with a mean follow-up of 17.53 months (range 6-37 months), three patients had enucleation for residual tumor or tumor recurrence. One patient developed metastasis post enucleation and two patients who were lost to follow-up after enucleation advice for residual tumor developed orbital tumor extension and eventually died of metastasis.
CONCLUSION
Secondary triple-drug IAC following failure of IVC, along with other adjunct treatment modalities might a be a cost-effective option for eye salvage in advanced intraocular retinoblastoma patients who refuse enucleation, with a globe salvage rate of 53.84%. It can also be an effective approach to improve treatment compliance and can help in addressing the barrier of treatment refusal when enucleation is advised.
Topics: Humans; Infant; Retinoblastoma; Retinal Neoplasms; Retrospective Studies; Neoplasm, Residual; Treatment Outcome; Antineoplastic Combined Chemotherapy Protocols; Infusions, Intra-Arterial; Neoplasm Recurrence, Local; Melphalan
PubMed: 36727336
DOI: 10.4103/ijo.IJO_1388_22 -
Advances in Experimental Medicine and... 2020Retinoblastoma, an intraocular cancer primarily affecting children, interacts with surrounding intraocular and extraocular structures in the development and progression....
Retinoblastoma, an intraocular cancer primarily affecting children, interacts with surrounding intraocular and extraocular structures in the development and progression. Subretinal and vitreous seeds are characteristic features of retinoblastoma, which result from the interaction between the tumor and its environment at the levels of tissue and microenvironment. The retina and vitreous affect the disease course and responses to treatment options. Also, neighboring cells in the retina and physicochemical properties of the tumor microenvironment are related to the biological activities of retinoblastoma tumors. Researches focusing on the tumor environment of retinoblastoma will lead to the development of more effective treatment options, which can revolutionize the prognosis of patients with retinoblastoma.
Topics: Child; Humans; Infant; Retina; Retinal Neoplasms; Retinoblastoma; Treatment Outcome; Tumor Microenvironment
PubMed: 34185303
DOI: 10.1007/978-3-030-59038-3_21 -
Radiology Jun 2023
Topics: Humans; Retinoblastoma; N-Myc Proto-Oncogene Protein; Retinal Neoplasms; Genes, Retinoblastoma; Magnetic Resonance Imaging; Ubiquitin-Protein Ligases; Retinoblastoma Binding Proteins
PubMed: 37191487
DOI: 10.1148/radiol.230852 -
Klinische Monatsblatter Fur... Jul 2023The role of CD133 und ABCB5 is discussed in treatment resistance in several types of cancer. The objective of this study was to evaluate whether CD133/ABCB5...
BACKGROUND
The role of CD133 und ABCB5 is discussed in treatment resistance in several types of cancer. The objective of this study was to evaluate whether CD133/ABCB5 colocalization differs in untreated, in beam radiation treated, and in chemotherapy treated retinoblastoma specimens. Additionally, CD133, ABCB5, sphingosine kinase 1, and sphingosine kinase 2 gene expression was analyzed in WERI-RB1 (WERI RB1) and etoposide-resistant WERI RB1 subclones (WERI ETOR).
METHODS
Active human untreated retinoblastoma specimens (n = 12), active human retinoblastoma specimens pretreated with beam radiation before enucleation (n = 8), and active human retinoblastoma specimens pretreated with chemotherapy before enucleation (n = 7) were investigated for localization and expression of CD133 and ABCB5 by immunohistochemistry. Only specimens with IIRC D, but not E, were included in this study. Furthermore, WERI RB1 and WERI ETOR cell lines were analyzed for CD133, ABCB5, sphingosine kinase 1, and sphingosine kinase 2 by the real-time polymerase chain reaction (RT-PCR).
RESULTS
Immunohistochemical analysis revealed the same amount of CD133/ABCB5 colocalization islets in untreated and treated human retinoblastoma specimens. Quantitative RT-PCR analysis showed a statistically significant upregulation of CD133 in WERI ETOR (p = 0.002). No ABCB5 expression was detected in WERI RB1 and WERI ETOR. On the other hand, SPHK1 (p = 0.0027) and SPHK2 (p = 0.017) showed significant downregulation in WERI ETOR compared to WERI RB1.
CONCLUSIONS
CD133/ABCB5 co-localization islets were noted in untreated and treated human retinoblastoma specimens. Therefore, we assume that CD133/ABCB5 islets might play a role in retinoblastoma genesis, but not in retinoblastoma treatment resistance.
Topics: Humans; Retinoblastoma; Etoposide; Retinal Neoplasms
PubMed: 34571550
DOI: 10.1055/a-1525-2588 -
Canadian Journal of Ophthalmology.... Aug 2022The primary aim of this study was to identify the frequency of death, metastasis, enucleation, and use of external beam radiation therapy (EBRT) among retinoblastoma...
OBJECTIVE
The primary aim of this study was to identify the frequency of death, metastasis, enucleation, and use of external beam radiation therapy (EBRT) among retinoblastoma patients. The secondary aim was to determine whether any events were associated with suboptimal clinical management to identify areas for clinical care improvement.
METHODS
Patients diagnosed with retinoblastoma between January 1, 2000, and December 31, 2015, at The Hospital for Sick Children were included. Medical records of eligible patients underwent a comprehensive 2-part review. First, a chart review collected diagnostic details, treatment course, and occurrence of 4 events: death, metastasis, use of EBRT, and enucleation. Next, events were reviewed in detail, and a multidisciplinary committee reached consensus on cases managed suboptimally.
RESULTS
The study included 209 patients (292 eyes). There were 8 deaths, 11 metastases, 177 enucleations (143 primary, 34 secondary), and 8 uses of EBRT. Thirteen patients were reviewed by the multidisciplinary committee, which confirmed that 5 of these patients had events associated with suboptimal clinical management. Three patients developed metastases leading to death (misdiagnosis and mismanagement of trilateral retinoblastoma [1], parental refusal of enucleation [1], and inaccurate histopathology after primary enucleation [1]). One patient developed extraocular extension related to scleral invasion following aggressive focal therapy. One patient underwent secondary enucleation for a Group B eye related to mismanagement of a treatment complication.
DISCUSSION
Deaths, metastases, and enucleations with documented instances of suboptimal care highlighted a need to enhance medical team and patient communication, histopathology interpretation, laser treatment guidelines, and trilateral retinoblastoma management. Routine clinical audit of retinoblastoma management can identify areas for clinical practice change.
Topics: Child; Clinical Audit; Eye Enucleation; Humans; Infant; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 34077747
DOI: 10.1016/j.jcjo.2021.04.019 -
European Journal of Ophthalmology Nov 2021Differing techniques have been reported for focal laser therapy for patients with small and medium retinoblastoma. We report the technique used at our center; and report...
PURPOSE
Differing techniques have been reported for focal laser therapy for patients with small and medium retinoblastoma. We report the technique used at our center; and report the functional and anatomical outcomes for small and medium retinoblastomas treated with focal laser therapy with or without systemic chemotherapy.
METHODS
A retrospective case study was conducted including pediatric patients with macular retinoblastoma treated with systemic chemotherapy and laser ablation from July 1990 to July 2015 at Washington University School of Medicine/Saint Louis Children's Hospital.
RESULTS
Fourteen eyes (11 patients) with small and medium retinoblastoma tumors were treated with repetitive indirect laser hyperthermia and seven of those patients were treated with systemic chemotherapy as well. Using the International Retinoblastoma classification, one eye was stage A, 10 eyes were stage B, and three eyes were stage C. The mean follow-up time was 7.7 years. There were no recurrences of tumor in the patients. Final visual acuity outcomes were 20/20 to 20/50 in four eyes, 20/60 to 20/200 in four eyes, and 20/400 or less in six eyes. None of the patients developed metastatic disease.
CONCLUSIONS
The evidence for systemic chemotherapy and diode laser therapy is limited to case series and retrospective reviews, but evidence suggests that it is an effective treatment for small and medium sized retinoblastoma tumors involving the macula with the potential for good visual outcomes.
Topics: Antineoplastic Combined Chemotherapy Protocols; Child; Combined Modality Therapy; Humans; Infant; Iris; Lasers, Semiconductor; Retinal Neoplasms; Retinoblastoma; Retrospective Studies
PubMed: 33530736
DOI: 10.1177/1120672121991390