[Drug therapy of retinoblastoma. The first report. Distribution of 5-fluorouracil and bleomycin in retinoblastoma and aqueous humor (author's transl)].
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Aqueous Humor↗
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Lactate dehydrogenase levels and isozyme patterns. Measurements in the aqueous humor and serum of retinoblastoma patients.
Lactate dehydrogenase (LDH) activity was determined in 24 cases of histologically proved retinoblastoma. The mean level was 1,825 IU/L, with a range of 10 to 15,920 IU/L. Twenty-two patients had elevated aqueous humor LDH levels. In two, the aqueous humor level was within the normal range. Student's t testing showed a highly significant difference between cataract and retinoblastoma aqueous humor. The retinoblastoma aqueous humor to blood ratio ranged from 0.045 to 58,529--not a good index of retinoblastoma. Isozyme patterns of retinoblastoma aqueous humor were statistically similar to those of normal cataract aqueous humor. The serum LDH level of cataract patients was not statistically different from that of retinoblastoma patients. The LDH 5/LDH 1 ratio of retinoblastoma aqueous humor ranged from 0.042 to 27.05--not a good index of retinoblastoma, as 28 of 34 aqueous samples of cataract patients had LDH 5 greater than LDH 1. Ten of 13 retinoblastoma patients had aqueous humor LDH 5 greater than LDH 1. The best index of the presence or absence of retinoblastoma is the total aqueous humor LDH level.
Aqueous Humor↗
[Experience in treatment of retinoblastoma in the German Democratic Republic (author's transl)].
A report on 150 patients suffering from retinoblastoma (71 unilateral and 79 bilateral cases) treated between 1960 and 1977. There was a familiar accumulation of retinoblastoma in 8.9% of the bilateral and 5.8% of the unilateral cases. Leukokoria and squint were the most frequent first signs of the tumor. The overall lethality was 12.7% during an average follow up period of 7.8 years. The lethality due to metastases on bilateral cases (8.9%) was as high as that due to unilateral retinoblastomas (9.9%). Spontaneous cure occurred in 2%. The cure rate of unilateral retinoblastomas was 87.3%. The survival rate in bilateral tumor cases 84.8%. The eye with the more advanced tumor was enucleated immediately; irradiation therapy only saved both eyes in one patient. Enucleation of the second eye was necessary in 40.5% of our patients suffering from bilateral retinoblastoma. In 43.8% of all bilateral retinoblastomas destruction of the tumor in the second eye was accomplished and a useful degree of visual acuity was achieved after an average follow-up period of 7.5 years.--The optimum therapeutic procedure depends on the size and position of the retinoblastoma and should be scheduled individually in each patient: photocoagulation, cryocoagulation, 106Ru/ 106Rh-applicator, 60Co-applicators, external beam irradiation (linear accelerator 5 MeV), chemotherapy.
Adolescent↗
Costenbader Memorial Lecture: Genesis and genetics of retinoblastoma.
(1) The incidence of retinoblastoma is 1/20,000. (2) About 94% of all retinoblastoma cases are sporadic, while 6% are familial. (3) The hereditary retinoblastomas, whether sporadic or familial, represent 40% of all cases. (4) A new dominant germinal mutation is responsible for 100% of the bilateral sporadic cases and for 10-15% of the unilateral sporadic cases. (5) Knudson's multistage mutation is the best explanation of retinoblastoma's behaviour. (6) A deletion of the long arm of a D-chromosome (13q14) may be the cause of some, if not of all retinoblastomas. (7) The main difficulty in genetic counseling is the lack of means for identifying which sporadic unilateral retinoblastomas are due to a new germinal mutation.
Adult↗
Analysis of misdiagnosed retinoblastoma in a series of 726 enucleated eyes.
Of 726 eyes consecutively enucleated at the Mayo Clinic from 1954 through 1974, 41 contained retinoblastoma. In no instance was unsuspected retinoblastoma identified, nor could retinoblastoma be confirmed pathologically in an additional eight eyes in which retinoblastoma was considered in the differential diagnosis. In each of our eight misdiagnosed cases, the eyes were already blind and were cosmetically defective. The frequency of clinical misdiagnosis of retinoblastoma is high in part because it must be considered in every case of leukokoria. Although every effort was made to arrive at an accurate clinical diagnosis, the clinical misdiagnosis of retinoblastoma in a blind eye is of far less serious consequence than the clinical misdiagnosis of a tumor in a seeing eye.
Child, Preschool↗
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
IMPORTANCE: Plasma cell-free DNA (cfDNA) testing is increasingly used for disease diagnosis and monitoring in retinoblastoma, with RB1 allele fraction in cfDNA actively corresponding to disease status and treatment response. However, while RB1 mosaicism has been reported in retinoblastoma, its clinical implications and potential impact on cfDNA testing remain unclear. OBJECTIVES: To identify RB1 mosaicism using paired plasma and buffy coat (containing lymphocytes, monocytes, granulocytes, and platelets) DNA testing, and to characterize the implications of RB1 mosaicism on cfDNA testing outcomes. DESIGN, SETTING, AND PARTICIPANTS: In this cross-sectional study, participants with retinoblastoma underwent testing with MSK-ACCESS (Memorial Sloan Kettering-Analysis of Circulating cfDNA to Examine Somatic Status), a clinical assay that combines plasma cfDNA and buffy coat genomic DNA sequencing, enabling the detection and differentiation of somatic, heterozygous, and mosaic variants, between July 2020 and April 2024 at the Memorial Sloan Kettering Cancer Center. Mosaic findings from MSK-ACCESS were correlated with those from a subgroup of patients who concurrently underwent testing using the MSK-IMPACT germline assay. Data analysis was performed from April to September 2024. EXPOSURE: RB1 mosaicism in retinoblastoma. MAIN OUTCOMES AND MEASURES: The RB1 variant allele fractions in cfDNA and buffy coat genomic DNA were used to detect RB1 mosaicism. RESULTS: A total of 136 consecutive patients with retinoblastoma (median age at diagnosis, 1.0 year [IQR, 0.4-1.7 years]; 74 [54.4%] female; 67 with bilateral disease and 69 with unilateral disease) who underwent testing with the MSK-ACCESS assay were included. RB1 mosaicism was identified in buffy coat DNA from 20 patients (14.7%), with consistent results detected in all 11 participants tested concurrently by the MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) germline assay. Four participants with RB1 mosaicism previously tested negative for germline RB1 variants by external laboratories. Compared with heterozygous participants, participants with RB1 mosaicism had a lower risk of developing bilateral disease (91.7% vs 55.0%, respectively; difference, 36.7% [95% CI, 13.8%-59.6%]; P = .002). In cfDNA, the mosaicism variant was detected both before and after treatment, with variant allele fraction initially decreasing after treatment but then stabilizing at levels consistent with mosaicism, despite the absence of clinical disease. CONCLUSIONS AND RELEVANCE: The accurate detection and quantification of RB1 mosaicism are crucial. RB1 mosaicism should be considered when RB1 variants persist in cfDNA after treatment without evidence of disease; failure to do so may lead to false-positive results and overtreatment in patients with RB1 mosaicism. Identifying RB1 mosaicism may improve patient counseling, inform treatment decisions, and enhance surveillance efforts.
Humans↗
Retinoblastoma and intracranial malignancy.
The occurrence of independent brain tumors in two patients with retinoblastoma is described. One patient with well-differentiated biliteral retinoblastomas developed, over two years later, a pineal tumor but no other metastatic lesions. The pineal tumor was composed of small neuroblastic cells and a second population of larger cells with vesicular nuclei and more abundant cytoplasm. This feature is not characteristic of either primary or metastatic retinoblastoma. In the second patient the symptoms of a brain tumor led to the discovery of a small uniocular, well-differentiated retinoblastoma. The brain tumor was retrochiasmal, highly differentiated (showing areas of photoreceptor differentiation), and interpreted as an ectopic nonmetastatic retinoblastoma. The possible histogenetic origins of the brain tumors are discussed. Patients who develop symptoms of a brain tumor after a prolonged interval since the treatment of their ocular tumors should be suspected of harboring a second intracranial primary.
Brain Neoplasms↗
Spontaneous regression of retinoblastoma.
Clinicopathologic evidence of bilateral spontaneous regression of retinoblastoma in three brothers is presented. The buphthalmic right eye and phthisical left eye of one of these persons were examined histopathologically. The two brothers of this patient both had phthisical left eyes, and those eyes were examined histopathologically. Both of those brothers also had clinically detected chorioretinal scars in their right eyes from regressed retinoblastoma. Three of eight children of one of the two brothers had bilateral retinoblastoma, and two of seven children of the other brother had bilateral retinoblastoma. Reports in the literature of 50 previous cases of total spontaneous regression of retinoblastoma from 1911 to 1975 are reviewed.
Adolescent↗
Histocompatibility typing in spontaneous regression of retinoblastoma.
Human Leukocyte Antigen (HLA) Typing of Caucasian patients with retinoblastoma fails to show any difference in antigen frequency compared to a control population. In family studies where several members are affected with retinoblastoma the tumor does not segregate with the HLA type. There is also no significant difference in antigen frequency between spontaneous regression of retinoblastoma, unregressed retinoblastoma, and normal controls. In several families with one member showing spontaneous regression of retinoblastoma, other generations inheriting the same haplotypes have tumors which have failed to regress.
Eye Neoplasms↗
Mutational mosaicism and genetic counseling in retinoblastoma.
Mutations may arise throughout an organism's life cycle. Typically, sporadic meiotic mutations give rise to individuals with all their germinal and somatic cells bearing the mutant gene. These mutations may be amorphs (with full penetrance and expressivity) or hypomorphs (with reduced penetrance and expressivity). Mutational mosaicism, however, involves the origin of mutations occurring during mitosis, whether in the parent at some stage prior to reproductive maturity or in the offspring at some time following fertilization. The phenotypic expression and transmission of these new mutations are dependent on the proportion of cells bearing the mutant gene as well as the location of these cells in somatic and/or germinal tissues. Mutational mosaicism was used as a developmental model to analyze 1,500 sporadic and 179 familial cases of retinoblastoma from the world literature. This model provided an interpretation for the origin, onset, and transmissibility of the sporadic unilateral retinoblastoma cases, which represent over 60% of all retinoblastoma patients. The model also permits a reclassification of all transmissible types of retinoblastoma; based on this classification, more accurate risk figures for genetic counseling can be offered. In addition, mutational mosaicism can be extended as a model to other autosomal dominant and X-linked mutations.
Animals↗
[Carcinoembryonic antigen in retinoblastomas (author's transl)].
In 47 patients (46 children and 1 adult) with unilateral and bilateral retinoblastoma, the titer of the carcinoembryonic antigen (CEA) was determined. The CEA titer of children with active retinoblastomas was 1.44 +/- 0.26 ng/ml (x +/- SEM). Those patients whose retinoblastoma was inactivated by therapy did not show a significantly lower CEA titer. In the group of children with one eye removed because of a unilateral retinoblastoma, the CEA titer was significantly (P less than 0.1) lower. The globes of 25 children were examined histologically. In those cases with invasion of the optic nerve or choroid, the CEA titer was significantly higher (P less than 0.1) as compared with those where the tumor was limited to the retina alone.
Adult↗
Hereditary retinoblastoma: penetrance, expressivity and age of onset.
Analyses of family data published in Japan concerning 29 kindred with 2 or more cases of retinoblastoma revealed that, in the children who received the gene from a carrier parent, both penetrance and expressivity increase with increasing degree of expressivity in the parent. The estimate for the average degree of penetrance varies from 0.7 to 0.9, depending upon the method employed. The value will be increased with increasing number of survivors of hereditary retinoblastoma. Data were presented to indicate that in the hereditary form of retinoblastoma onset tends to be later in unilateral than in bilateral affection, though in the non-hereditary form onset will be further delayed. No effect of birth order was detected. It was suggested that suppressor genes at other loci play a significant role in manifestation of the major dominant gene for retinoblastoma. Implications of these findings were discussed.
Age Factors↗
Second tumors in nonirradiated bilateral retinoblastoma.
We reviewed the records of 1,323 patients with retinoblastoma treated here between 1922 and 1978. Twenty-eight patients underwent bilateral enucleation alone and received no additional treatment for their advanced tumors. Of the 28 patients, 22 (92%) survived. Four patients were lost to follow-up, and two died of metastatic retinoblastoma. Of 22 survivors of bilateral retinoblastoma treated with enucleation alone, three developed second tumors at a mean of 15.3 years after bilateral enucleation. One patient developed a rhabdomyosarcoma in the left temple region, the second patient developed an osteogenic sarcoma of the right femur, and the third developed a malignant melanoma of the left thigh. All three patients died of their disease. The incidence of second tumors in patients who survived bilateral retinoblastoma treated without radiation was 14% (three patients), which is comparable to a series previously reported in which patients were treated with enucleation and irradiation.
Adolescent↗
New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma.
New clinical and pathologic findings in patients with deletion of the long arm of chromosome 13 (13q-) include optic nerve hypoplasia and retinal dysplasia. Fibroblasts derived from patients with a 13q- syndrome with and without retinoblastoma, as well as from familial and sporadic retinoblastoma, are a useful model for the study of genetic susceptibility to the development of spontaneous and radiation-induced cancers. Fibroblasts from patients with hereditary retinoblastoma appear more radiosensitive than fibroblasts from patients with sporadic retinoblastoma or normal control patients.
Abnormalities, Multiple↗
Chromosomal anomalies in patients with retinoblastoma.
Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa-banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa-banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47,XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy.
Adolescent↗
Rubeosis iridis in retinoblastoma and pseudoglioma.
The high incidence of rubeosis iridis accompanying retinoblastoma has been reaffired. Factor common to ocular tumors in general and retinoblastoma, as well as reactions to retioblastoma that have some contributory effect upon vascularization of the iris have been studied and complied. No single causative factor emerged, although tumor necrosis obviously played an important role. To a lesser extent, the site, location, and intraocular extension bore some relationship to neovascularization. That iris neovascularization carries a more grave prognosis, until now only a clinical impression, was definitely confirmed. Clinicians, therefore, studying patients with retinoblastoma would be well advised to pay more attention to the iris and anterior segment since recognition of changes leads to more timely and knowledgeable management. It was hoped that increased recognition of rubeosis would differentiate between eyes with retinoblastoma and those with pseudoglioma; however, an equally high incidence of neovascularization accompanied certain pseudogliomas. In both studies, as is often the case, numerous interesting observations were made; several with clinical implications. Finally, a frequently associated glaucoma, suggested by the anterior segment histologic features, went urecognized and unrecorded in these patients.
Diagnosis, Differential↗
[Malignancies in relatives of retinoblastoma patients (author's transl)].
In 14 out of 25 patients with retinoblastoma there was a family history of malignancies. Most of the malignant tumours had been carcinomas. In 2 families relatives died because of leukaemia; in these cases the tumour was a so-called diffuse retinoblastoma occurring in elder children. A third family with a retinoblastoma in one child and leukaemia in another is mentioned. This unusual coincidence of two tumourous conditions of which one might be of viral origin led to detailed electron microscopic examination of the retinoblastoma in one case; but there were no signs of reduplicating viruses.
Adult↗
Delayed mutation as a cause of retinoblastoma: application to genetic counseling.
The genealogic and genetic data on retinoblastoma were reviewed and interpreted according to the model of delayed mutation; then applications of the model to specific situations in genetic counseling were considered. Patients with multiple congenital abnormalities and systemic chromosome aberrations are regarded as belonging to a different category of retinoblastoma cases than the more common patients without such abnormalities. The model of delayed mutation is considered for the latter group of patients. According to the model, mutation at the retinoblastoma locus can be delayed or complete and can occur during meiotic or mitotic cell division. Genotypically, three clases of individuals can be identified in retinoblastoma families: homozygous normal, heterozygous for the premutated allele, and heterozygous for the (fully) mutated allele; the other possible combinations of individuals have apparently not been observed. There is to date no evidence to suggest incomplete penetrance of the mutant allele, but 14% of individuals who have the mutant gene are "only" unilaterally affected. Carriers produce normal, affected and carrier offspring in the empiric proportion of, respectively, 54.5%, 36.4% and 9.1%. Most difficulties in genetic counseling arise because affected individuals may have inherited the premutated or the mutated allele and because unaffected individuals may have inherited the normal or the premutated allele. These aspects were considered for individuals presenting as sporadic-unilateral, sporadic-bilateral, familial-unilateral and familial-bilateral cases, and the empiric risk figures for various situations were quoted from the literature.
Alleles↗