Cases Of Trilateral Retinoblastoma Research Articles

Pineal gland ADC values in children aged 0 to 4 years: normative data and usefulness in the differential diagnosis with trilateral retinoblastoma.

Normative ADC values of the pineal gland in young children are currently lacking, however, these are potentially useful in the differential diagnosis of pineal involvement in trilateral retinoblastoma, which is challenging when the size of the tumor is less than 10-15mm. The main objective of this study was to establish ADC reference values of the normal pineal gland in a large cohort of children between 0 and 4 years. This retrospective study was conducted in a tertiary pediatric hospital. We collected 64 patients with normal MRI examination (between 2017 and 2024) and clinical indication unrelated to the pineal gland, and divided them into 5 age groups (0 to 4 years). Gland size and mean ADC values were calculated, using the ellipsoid formula and ROI/histogram analysis, respectively. The established values were tested in three cases of trilateral retinoblastoma (10 to 20 months). Mean ADC values were always above 1000 × 10- 6 mm2/s, while in patients with trilateral retinoblastoma they were around 800 × 10- 6 mm2/s. Pineal ADC values were identical in both genders. The volume of the pineal gland showed a tendency to increase with age. We present ADC reference data for the pineal gland in children under 4 years of age. The distribution of mean ADC values of trilateral retinoblastoma was significantly different from the normative values, hence, the use DWI/ADC may help to identify small trilateral retinoblastoma in children with ocular pathology.

LINC-36. TRILATERAL RETINOBLASTOMA: A REPORT OF FOUR CASES

Retinoblastoma is the most common primary malignant intraocular cancer that usually develops in early childhood. About 5% of those patients are at risk of developing trilateral retinoblastoma (TRB). In developing countries, most of them came in the late stage; therefore, ocular and patient survival rates are lower than in developed countries. From 2015–2019, we found four cases of trilateral retinoblastoma. Two of them had bilateral retinoblastoma, and two had unilateral retinoblastoma. They all presented with leukocoria and had no family history of retinoblastoma. The mean age was 13.8 months (range 9–24 months of age). The diagnosis of trilateral retinoblastoma was made from initial head CT/MRI. They were treated conservatively with high dose VEC chemotherapy, and three of them have died during treatment. Trilateral retinoblastoma is usually fatal and needs multidisciplinary treatment care. In developing countries, it is important to evaluate distant metastasis. Head CT or MRI from the initial diagnosis to exclude the trilateral retinoblastoma.

Magnetic Resonance Imaging Screening for Trilateral Retinoblastoma: The Memorial Sloan Kettering Cancer Center Experience 2006–2016

Magnetic resonance imaging (MRI) has been used for baseline brain imaging and afterward as a screening tool for trilateral retinoblastoma (TRB), but there is no consensus on timing or frequency of screening worldwide. In this study, a cohort of hereditary retinoblastoma patients at increased risk for TRB was identified and the usefulness of aggressive neuroimaging was examined. Retrospective review of the medical records and MRI reports of patients with retinoblastoma treated at Memorial Sloan Kettering Cancer Center between January 1, 2006, and December 31, 2016. Three hundred forty-nine total patients with retinoblastoma, including 215 hereditary retinoblastoma patients in the screening group. We reviewed 804 MRI studies of the orbit or brain. Patient and disease characteristics, including laterality, family history, and gene mutation status were analyzed. The impression of every MRI was coded 1 to 5, each value representing a different abnormality. We calculated the incidence of TRB in patients with germline disease as well as the incidence of screening MRI scans showing TRB. Among our hereditary retinoblastoma screening cohort (n=215) 4 patients with TRB were identified on screening MRI. All 4 patients showed bilateral disease, pineal gland tumors, and a latency period of at least 1 year. Three of the 4 were deceased by the end of the study. The incidence of TRB diagnosis was 1.9% (95% confidence interval [CI], 0.7%-4.9%). Of the 804 screening MRI scans performed on the screening cohort, 691 (86%) were unremarkable and 4 reported a lesion suspicious for TRB. The overall incidence of detecting TRB on screening MRI in the at-risk cohort was 0.5% (95% CI, 0.2%-1.3%) with a number needed to treat of 202. All cases of TRB in our center during the study period developed before the patient was 3 years of age and after a total of only 4 lifetime MRIs. Overall survival from TRB was not improved as a result of screening, andmany false-positive results required additional, subsequent MRI scans with anesthesia.

Extra-ocular retinoblastoma: about 12 cases followed at the Mohamed VI university hospital of Marrakech.

Retinoblastoma is the most frequent childhood intraocular tumor. The aim of our study is to evaluate the clinical features and management of extra-ocular retinoblastoma in the Mohamed VI university hospital of Marrakech. Retrospective case series, the patient's records were reviewed for patient and tumor features, ocular management, histopathological findings, and patient survival. Over a period of three years, 35 eyes were diagnosed with retinoblastoma; 12 children (16 eyes) (46%) had extra-ocular retinoblastoma. Mean age was 27 months, 60% were males. Six cases had unilateral tumor, five bilateral and one case of trilateral retinoblastoma. There was no positive family history, proptosis was the mean mode of presentation (41,6%) followed by staphyloma (25%) orbital cellulitis (25%) and hyphema(8,3%). The median lag period was 18 months. On imaging and histopathological analysis, there was extrascleral involvement in 41.6%, involvement of orbital part of optic nerve (75%), of orbital muscles (50%) and eyelids in 16.6%. the surgical treatment included according to the degree of extension enucleation (75%) or exenteration (25%) associated to chemotherapy in all cases and one case of external beam radiation. There were 2 cases of orbital recurrence, one death and no metastases at 30 months follow-up.Orbital retinoblastoma still stands as a tall challenge requiring multi-modal and multi-disciplinary approach. Although the survival has increased over the last few years, lack of access to medical facilities, lack of education about the need for early medical attention and cultural resistance to enucleation continue to contribute to an epidemic of extra ocular disease at diagnosis in the developing world.

Two novel cases of trilateral retinoblastoma: genetics and review of the literature

Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described. In our report, we investigated two patients with TRB who showed a germline RB1 point mutation that has never been found to date and a large deletion involving RB1, respectively. Genetic data were compared to our in-house series and to current literature; these data suggested a role for other candidate regions in the pathogenesis of TRB. Moreover, our study highlights the need for new approaches allowing a multigenic analysis to clarify the genotype-phenotype correlation in TRB.

Rétinoblastome trilatéral en milieu africain burkinabé: à propos de trois cas

The authors describe three cases of trilateral retinoblastoma, a rare syndrome that occurs most often in young children. Two of these children were 3 years old at diagnosis, and the other 4 years old. The retinoblastoma was unilateral in one child and bilateral in the others. All underwent computed tomography (CT) imaging, which made it possible to locate the intraocular tumor lesions, to specify the extent of the tumor and to look for a possible intracranial neoplasm. Unfortunately, the cost of CT is high, which limits its use in our context.

Trilateral retinoblastoma

Trilateral retinoblastoma (TRB) is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma (Rb) associated with an intracranial neuroblastic tumor. Although its incidence is low, the prognosis is very poor. This article reports four cases of TRB and discusses the role of neuroimaging screening for early detection. From January 1986 to December 2003, 470 children with Rb were admitted to the Pediatrics and Ophthalmology Departments, A C Camargo Hospital, São Paulo, Brazil. There were four patients with pineoblastoma, two of whom had a positive familial history. The age at diagnosis of Rb was 4, 6, 10, and 24 months while the age of diagnosis of TRB was 10, 25, 57, and 72 months. One patient presented TRB at initial diagnosis of Rb. Three patients had bilateral disease and all of them had one eye enucleated, followed by chemotherapy and/or external beam radiation therapy (EBRT). One child with unilateral disease was only submitted to enucleation. In spite of intensive treatment, all patients died with progressive disease within 7, 8, 12, and 12 months after diagnosis of TRB. Early diagnosis as well as new therapeutic approaches are needed to achieve better results.

Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma.

To obtain refined knowledge regarding trilateral retinoblastoma (TRb), which is a syndrome that consists of hereditary retinoblastoma associated with an intracranial neuroblastic tumor. Using a systematic literature review, we contacted authors to obtain missing information. Data from 106 children were used in a meta-analysis including frequency distributions and Kaplan-Meier survival curves. TRb showed no sex predilection. Median age at diagnosis of retinoblastoma was 5 months (range, 0 to 29 months); age at diagnosis was younger among 47 children (47%) with familial retinoblastoma compared with age at diagnosis among 52 children (53%) with sporadic retinoblastoma (2 v 6.5 months, P <.0001). TRb usually affected the second or third generation with retinoblastoma. Median time from retinoblastoma to TRb was 21 months (range, 6 months before to 141 months after); time to TRb was longer for 78 (77%) pineal tumors compared with 23 (23%) suprasellar tumors (32 v 6.5 months, P <.0001). The size (27 v 32 mm, P =.57) and prognosis (survival of 9 v 8 months, P =.91) of pineal and suprasellar tumors were similar. TRb was detected earlier (1 v 22 months, P =.0007) and the child survived longer if neuroimaging was routinely performed (16 v 8 months, P =.001), but age at death was similar (36 v 37 months, P =.98). Cumulative 5-year survival (which was likely to indicate cure) was 27% (v 0%) if screening was undertaken. All children whose TRb exceeded 15 mm in size died. The family history, age at diagnosis, and laterality of retinoblastoma in children with TRb resembled that of ordinary hereditary retinoblastoma. Suprasellar TRb were diagnosed earlier, and may arise earlier, than pineal TRb. Screening by neuroimaging could improve the cure rate if cases of TRb were detected when tumors were 15 mm or smaller in size.

Trilateral Retinoblastoma with an RB1 Deletion Inherited from a Carrier Mother: A Case Report

A presentation of intracranial tumor in bilateral and unilateral retinoblastoma with or without family history is termed as trilateral retinoblastoma (TRB). It always occurs either as a pineal tumor or supra/parasellar tumor, which differ in presentation and prognosis. We report here the first case of TRB with transmission of retinoblastoma gene ( RB1) deletion from an unaffected mother (a carrier), presenting as concurrent intracranial neoplasm with bilateral retinoblastoma. The presence of RB1 mutation in both child and mother could be responsible for development of intracranial neoplasm which occurred simultaneously with bilateral RB in our patient. Our patient, who had a suprasellar mass, received radiation and intrathecal chemotherapy, and died 6 months after diagnosis. The occurrence of intracranial tumor in an asymptomatic stage can be avoided by routine computed tomography (CT) and magnetic resonance imaging (MRI) scan, and improved survival can be achieved by aggressive multimodality therapy.

Trilateral retinoblastoma-incidence and outcome: A decade of experience

Purpose : This report examines the incidence and outcome of trilateral retinoblastoma in children treated for retinoblastoma. A group of patients who are at highest risk for the development of trilateral retinoblastoma is defined. Methods and Materials : Between 1979 and 1990, 117 children were treated with external beam radiation therapy for retinoblastoma, ( 97 117 , bilateral). Median follow-up time was 68 months. The median age at diagnosis was 7 months. Results : Six cases of trilateral retinoblastoma were identified. The incidence of trilateral retinoblastoma in children with bilateral retinoblastoma was 6% ( 6 97 ) and 10% in those with a family history of retinoblastoma. The median age at diagnosis of RB in the children with trilateral retinoblastoma, was 3 months, younger than the median age of the entire retinoblastoma group. In all cases, the pineal region was excluded from the radiotherapy fields. Treatment for the trilateral retinoblastoma consisted of craniospinal axis radiation therapy and chemotherapy in three patients, chemotherapy alone in two, and no treatment in one. All patients died from this disease. Overall, of the 117 children treated at our institution for retinoblastoma with a median follow-up of 68 months, 12 have died. Trilateral retinoblastoma was the major cause of death, accounting for 50% ( 6 12 ) of deaths. Conclusion : Trilateral retinoblastoma is a major and under-appreciated cause of mortality in the first 5 years after the diagnosis of bilateral retinoblastoma. A more aggressive approach toward screening a defined population of childhood retinoblastoma survivors may be warranted.

Clinical presentation, treatment, and outcome of trilateral retinoblastoma

In this report, three new cases of trilateral retinoblastoma are presented. The clinical presentation, treatment, and outcome of the patients are described and compared with those of 32 cases that have been previously reported in the literature. A positive family history was obtained in 68% of the patients. The mean age at diagnosis of bilateral retinoblastoma was 7.2 months. The mean age at diagnosis of trilateral disease was 39.7 months, resulting in a mean latent interval of 32.6 months. The mean time from diagnosis of trilateral retinoblastoma to death was 6.6 months, and all patients died with spinal metastases. The patients who received no therapy survived an average of 1.3 months after the diagnosis of trilateral disease. The patients who received any form of definitive therapy survived 9.7 months. Five patients who had complete or dramatic response to therapy by computed tomography scans had local intracranial tumor present at autopsy. Therefore, more aggressive local therapy may be warranted.

INTRASELLAR PRIMITIVE NEUROECTODERMAL TUMOR (PNET) IN FAMILIAL RETINOBLASTOMA

An infant with bilateral familial retinoblastomas was found at age 6 months to have a large mass within the region of the sella turcica. The histology, immunoreactivity and ultrastructure of the tumor showed primitive neuroectodermal cells. A small number of cells showed positive immunostaining to retinal S antigen. This represents a rare form of so-called trilateral retinoblastoma. In most cases of trilateral retinoblastoma, the intracranial non-metastatic tumor is within the pineal gland. The occurrence of such a tumor in the region of sella turcica is very unusual and its possible significance is discussed in regard to our current understanding of the susceptibility to carcinogenesis conferred by inheritance of the mutant retinoblastoma gene, Rb-1.

Lectin binding in retinoblastoma.

Lectins were used as cytochemical probes to examine the relationship between normal retina and retinoblastoma. Cases of retinoblastoma in which there were either Flexner-Wintersteiner rosettes or fleurettes accompanied by nontumorous retina were studied with ten biotinylated lectins. Pineal and ocular tumors from cases of trilateral retinoblastoma were also studied. Con-A, LCA, PNA, WGA and RCA-I labeled tissue of each type to varying degrees, while BS-I, DBA, SBA, S-WGA and UEA-I bound neither tumor nor retina. The high degree of binding homology suggests biochemical as well as structural similarities between these tissues.

S-Antigen Immunoreactivity in Trilateral Retinoblastoma

Using monoclonal antibody MAbA9-C6, which identifies an antigenic determinant of S-antigen retained in fixed tissue sections, we investigated S-antigen immunoreactivity in the ocular and brain tumors of four cases of trilateral retinoblastoma. In the eye, S-antigen immunoreactivity was present in all retinoblastomas examined, as well as one retinocytoma characterized by benign appearing cells including fleurettes. S-antigen immunoreactivity was focally present in two of the four brain tumors examined. Additionally, two intraocular medulloepitheliomas, one of which contained well-defined rosettes, and 16 primary intracranial tumors, including seven pineal gland tumors and nine other lesions, some of which histopathologically may resemble retinoblastoma, were examined. S-antigen immunoreactivity was observed in two pineal gland tumors but not the remaining nine primary intracranial neoplasms or the two intraocular medulloepitheliomas. Our results further substantiate the immunologic relationship between the retina and the pineal gland, and tumors originating in these tissues.