No abstract available.
Retinoblastoma*

Retinoblastoma

Objectives: To describe the outcome of patients with bilateral or unilateral retinoblastoma with high-risk histopathological features managed at a tertiary hospital in the Philippines. Methods: This was a descriptive, retrospective review of retinoblastoma cases with high-risk histopathological characteristics seen at a tertiary hospital from January 1999 to July 2012. Out of 239 patients, those with at least one of the following features were included in the study: positive cut optic nerve margin, postlaminar optic nerve involvement (PLONI), intra- or extrascleral involvement, choroidal invasion, and anterior segment involvement. We determined the number of patients who developed orbital recurrence and metastasis, otherwise known as events, within 1 year after enucleation or exenteration and compared the outcomes between those who received and did not receive adjuvant therapy. Results: Of the 82 eyes of 79 patients with high-risk histopathologic features, 25.6% had orbital recurrence and 18.3% developed central nervous system, lymph node, or distant metastasis. None with isolated choroidal involvement (n=24) or combined choroidal and anterior segment involvement (n=4) developed recurrence or metastasis. Patients with isolated anterior segment (n=1) and PLONI with negative margin involvement (n=1) remained event-free with chemotherapy. The following developed orbital recurrences: 2 of 9 patients with combined choroid and scleral involvement, and 1 of 8 patients with PLONI negative margin and choroidal involvement. These patients did not receive immediate postoperative chemotherapy. Two out of 4 patients with isolated PLONI with positive margin of resection developed metastasis despite adjuvant therapy. Of 12 patients with combined choroid, scleral, or anterior segment and PLONI with positive margin involvement, only 3 of the 7 patients who received full chemotherapy remained event-free, while the rest developed orbital recurrence or metastasis (9 of 12). Of 17 patients with extrascleral involvement and varying degrees of intraocular involvement and optic nerve margin involvement, only 3 of the 9 who received full chemotherapy remained event-free, including two who received an intensive chemotherapy course. Conclusions Isolated choroidal and combined choroid and anterior segment involvement had no recurrences or metastasis either with or without adjuvant therapy. Patients with combined choroid and scleral involvement and those with PLONI, negative margin with choroidal involvement had better outcomes with adjuvant therapy than without. Patients with the following features developed events despite adjuvant therapy: positive optic nerve margin combined with any ocular tissue involvement, and extrascleral involvement combined with any other feature. We recommend giving a timely and complete chemotherapy regimen to prevent recurrence or metastasis in combined choroid and scleral involvement, and PLONI negative margin with choroidal involvement. We suggest intensive chemotherapy for patients with positive margin involvement or extrascleral involvement. Further studies are recommended to establish the need for chemotherapy in isolated PLONI.
Retinoblastoma

Any health care delay in the management of patients with retinoblastoma increases the risk of tumor invasion and permanent loss of vision in the affected eye.1 2 Factors that affect the speed of medical management, such as low physician density, few ophthalmology specialists, and limited third-level referral centers in a locality have been linked to poor health outcomes among patients with retinoblastoma.3 4 5 6 7 A two-month lag between the onset of symptoms and treatment of retinoblastoma has been associated with poor prognosis (i.e., tumor invasion and metastasis),8 9 while a six-month delay in diagnosis has been associated with high mortality rates.
Retinoblastoma

Retinoblastoma (RB), the most common intraocular malignancy in infants and young children,1 2 may lead to the loss of one or two eyes, central nervous system involvement, or even death, if treatment is delayed.3 However, if RB is diagnosed and treated early, patients with the malignancy have a survival rate of almost 100%.4 Delay in diagnosis of RB affects treatment outcomes and prognosis of patients with the disease. With the significant number of RB referrals that result in delays in receiving specialized care in low- and middle-income countries (LMICs)5—where most cases occur—global disparities in the outcomes of RB are evident, such that children with RB in LMICs often have poor prognosis.6 Difficulty of caregivers and primary health care providers in recognizing the earliest presenting signs of RB also contributes to the delay and can increase the risk of local tumor invasion.7 At present, the Department of Health (DOH) has included in its Philippine Cancer Control Program the Cancer in Children Awareness Month, as one of its health advocacies aimed to increase the public’s knowledge and understanding of childhood cancer.8 In September 2021, the first ever DOH-WHO Cancer Control Stakeholders Virtual Summit was held, with special focus given on childhood cancer.9 The DOH program has given emphasis on eight childhood cancers, including RB, that are common in Filipino children.10 In 2011, the Southern Philippines Medical Center (SPMC) and the National University Hospital in Singapore, in collaboration with the Dana Farber Children’s Hospital Cancer Center in Boston and St. Jude Children’s Research Hospital in Memphis, joined together to establish the RB Early Detection Campaign Program. This collaborative project started to educate the public on the early signs of RB, established a referral system across Davao City and other regions in Mindanao (Tagum City, General Santos City, Zamboanga City, and Cagayan de Oro City), and developed a multidisciplinary RB management team at SPMC.11 With the opening of a dedicated RB center at SPMC in 2012 as part of the program, the hospital’s RB census increased, and the majority of the cases detected were still at the early (intraocular) stage.12 However, despite the stringent implementation of the program in SPMC, the time interval between onset of symptoms and initiation of therapy among patients with RB has remained protracted.13 The aim of this article is to recommend health care policies based on the results of a study on the clinical profile and health care timeline of patients seen in a tertiary hospital in Davao City.
Retinoblastoma

Objective: To detect and characterize retinoblastoma susceptibility gene (RB1) mutations in tumor samples collected from Filipino patients with retinoblastoma. Methods: Six tumor samples were obtained from Filipino patients diagnosed with retinoblastoma. DNA was extracted from the tumor samples and exons 13-21 of the RB1 gene were amplified by polymerase chain reaction (PCR). PCR amplification products were subsequently purified and sequenced. Mutation detection and characterization were done by alignment of obtained sequences to the RB1 reference sequence from NCBI GenBank using Bioedit® software. The identified mutations were correlated with clinical presentation and family history. These mutations were also compared to known mutations reported in the RB1 Gene Mutation Leiden Open Variation Database (LOVD). Results: Mutations were detected in two out of the six samples. In a patient with unilateral disease and no family history, two mutations were identified: a novel CGT>AGT (Arginine → Serine) missense mutation in position c.1861 of exon 19 and a previously reported CGA>TGA (Arginine → STOP) nonsense mutation in position c. 1735 of exon 18. A possible large exonic deletion was identified in a case of unilateral disease with no family history. Conclusion We were able to identify both novel and known mutations in the RB1 gene of Filipino retinoblastoma cases using DNA sequencing techniques. These techniques may be applied to further characterize the genetic mutations of Filipino retinoblastoma cases and their families in developing a rational method of genetic testing for early diagnosis and counseling.
Retinoblastoma ; Genes, Retinoblastoma

No abstract available.
Lipomatosis* ; Retinoblastoma*

No abstract available.
Osteosarcoma* ; Retinoblastoma*

Objective: This study determined the clinical characteristics of retinoblastoma (RB) from 1998 to 2008 and compared the epidemiological and clinical patterns with those of the period from 1967 to 2001. Methods: We reviewed the clinical records of 152 patients with RB from 1998 to 2008 in terms of demographic and ophthalmological data and clinical staging or classification. Results: Sixty-three percent of cases were unilateral and 37% were bilateral. Three (3%) of 95 unilateral cases and 7 (12%) of 57 bilateral cases had family history of RB (p = 0.038). The mean age at onset was 17.8 months for unilateral and 7.4 months for bilateral cases, while the mean age at diagnosis was 26.4 months and 13.7 months respectively. The delay from onset to diagnosis was 69% in unilateral and 56% in bilateral RB groups. Financial cost (71.4%) was the leading reason for delay, followed by misdiagnosis (24.5%), and inaccessibility of medical facility (2.0%). The most common manifestations were leukocoria (77%), extraocular findings of orbital mass (9%), and proptosis (6%). Advanced intraocular stage was seen in 63 – 71.6% among those with unilateral and 56 – 60% in those with bilateral tumor. Conclusion The onset of disease had not changed over the years, but patients in general were brought earlier for consultation. Most cases presented in the advanced stage. Decreasing the occurrence of extraocular RB through early consultation and treatment can improve patient survival.
Retinoblastoma ; Epidemiology

Retinoblastoma is the most common intraocular malignant tumor in children. Retinoblastoma is divided two groups, hereditary and non-hereditary. Hereditary retinoblastoma is relakd to chormosomal abnormalities. By banding technique of somatic chromosome in retinoblastoma, deletion of chromosome 13q14 is found, but it has not been reported domestically. We experienced two cases of retinoblastoma with chromosome 13q14 deletion.
Child ; Humans ; Retinoblastoma*