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PubMed2001

Homologous recombination as a mechanism of carcinogenesis.

Cancer develops when cells no longer follow their normal pattern of controlled growth. In the absence or disregard of such regulation, resulting from changes in their genetic makeup, these errant cells acquire a growth advantage, expanding into pre-cancerous clones. Over the last decade many studies have revealed the relevance of genomic mutation in this process, be it by misreplication, environmental damage or a deficiency in repairing endogenous and exogenous damage. Here we discuss homologous recombination as another mechanism that can result in loss of heterozygosity or genetic rearrangements. Some of these genetic alterations may play a primary role in carcinogenesis, but they are more likely to be involved in secondary and subsequent steps of carcinogenesis by which recessive oncogenic mutations are revealed. Patients whose cells display an increased frequency of recombination also have an elevated frequency of cancer, further supporting the link between recombination and carcinogenesis. In addition, homologous recombination is induced by a wide variety of carcinogens, many of which are classically considered to be efficiently repaired by other repair pathways. Overall, homologous recombination is a process that has been widely overlooked but may be more central to the process of carcinogenesis than previously described.

Animals↗
PubMed2006

Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry.

Survivors of retinoblastoma (Rb) are at high risk of dying from second malignant tumour. The occurrence of second malignant neoplasm (SMN) and related mortality in a cohort of 1111 cases from the Italian Retinoblastoma Registry was analysed, considering the possible role of both genetic and iatrogenic causes. Rb patients had a greater than 10-fold excess in overall mortality compared with the general population (standardized mortality ratio (SMR) 10.73, 95% CI 9.00-12.80). Their excess risk attributable to cancers other than Rb was 14.93 95% CI 10.38-21.49). Survivors of hereditary Rb had an SMR for all causes of 16.25 (95% CI 13.20-20.00), whereas their SMR for all cancers was 25.72 (95% CI 17.38-38.07). Survivors of unilateral sporadic Rb had an SMR of 4.12 from all cancers (95% CI 1.55-10.98) and a much higher excess for overall mortality (SMR 13.34, 95% CI 10.74-16.56). As expected, survivors of hereditary Rb had higher mortality from cancers of the bone (SMR 391.90, 95% CI 203.90-753.20) and soft tissue (SMR 453.00, 95% CI 203.50-1008.40), small intestine (SMR 1375.50, 95% CI 344.00-5499.70), nasal cavity (SMR 13.71, 95% CI 1.93-97.35) and cancers of the brain and central nervous system (SMR 41.14, 95% CI 13.2-127.55).

Cohort Studies↗
PubMed1998

Risk of cancer among offspring of childhood-cancer survivors. Association of the Nordic Cancer Registries and the Nordic Society of Paediatric Haematology and Oncology.

BACKGROUND: Increasing numbers of children with cancer survive and reach reproductive age. However, the risk of cancer (other than retinoblastoma) in the offspring of survivors of childhood and adolescent cancer is uncertain. METHODS: Using data from national cancer and birth registries, we assessed the risk of cancer among 5847 offspring of 14,652 survivors of cancer in childhood or adolescence diagnosed since the 1940s and 1950s in Denmark, Finland, Iceland, Norway, and Sweden. The offspring were followed up for a diagnosis of cancer for 86,780 person-years, and standardized incidence ratios were calculated. RESULTS: Among the 5847 offspring, 44 malignant neoplasms were diagnosed (standardized incidence ratio, 2.6; 95 percent confidence interval, 1.9 to 3.5). There were 17 retinoblastomas, yielding a standardized incidence ratio of 37. There were 27 neoplasms other than retinoblastoma (standardized incidence ratio, 1.6; 95 percent confidence interval, 1.1 to 2.4). The second most common primary site of cancer among the offspring was the brain and nervous system, in which eight tumors were observed (standardized incidence ratio, 2.0; 95 percent confidence interval, 0.9 to 3.9.) There were between zero and four apparently sporadic cases of cancer in other primary sites among the offspring. Excluding 4 likely cases of hereditary cancer and 2 subsequent cancers among the offspring with hereditary retinoblastoma, there were 22 sporadic cancers, for a standardized incidence ratio of 1.3 (95 percent confidence interval, 0.8 to 2.0). CONCLUSIONS: There is no evidence of a significantly increased risk of nonhereditary cancer among the offspring of survivors of cancer in childhood.

Adolescent↗
PubMed2002

Ocular preservation after 36 Gy external beam radiation therapy for retinoblastoma.

PURPOSE: The purpose of this study was to document the ocular preservation rate after 36 Gy external beam radiation therapy (EBRT) for retinoblastoma. PATIENTS AND METHODS: Forty-nine eyes of 38 patients were treated with a median dose of 36 Gy EBRT. The patient population included 7 unilateral and 31 bilateral presentations, with a median age at diagnosis of 4 months. Eyes enucleated at the time of diagnosis or treated with other measures were not included in the analysis of ocular preservation. The median age at EBRT was 8 months. Patients were monitored for progression of disease after EBRT and second malignant neoplasms. RESULTS: The median follow-up was 88.6 months, with an estimated ocular preservation rate of 82.0% +/- 5% at 10 years. There was a difference in the ocular preservation rates for patients with advanced disease (Reese-Ellsworth group III-V) compared with early disease. Metastatic disease developed in two patients, and a second malignant neoplasm developed in three. Patients treated with en face electrons experienced a lower 5-year estimate of ocular preservation than those treated with photons, although patients treated with electrons were more likely to have advanced disease. CONCLUSIONS: The use of low-dose EBRT (36 Gy) results in ocular preservation rates that are comparable to those of high-dose EBRT. The use of electrons requires careful treatment planning and computerized dosimetry.

Child↗
PubMed2006

Stem cell markers: ABCG2 and MCM2 expression in retinoblastoma.

BACKGROUND/AIM: The authors studied the expression of cancer stem cell surface marker, ABCG2, and neural stem cell marker, MCM2, in retinoblastoma and correlated clinicopathologically. METHODS: Among 39 retinoblastomas, 18 tumours were not subjected to preoperative/postoperative chemotherapy, 15 tumours underwent postoperative chemotherapy, and six tumours had preoperative chemotherapy. There were 20 tumours with no invasion and 19 tumours with invasion of choroid/optic nerve. ABCG2 and MCM2 expression was studied by immunohistochemistry. RESULTS: ABCG2 was positive in six of six and MCM2 was positive in five of six tumours that had recurred in the orbit or metastasised. ABCG2 was positive in 15/19 tumours with invasion. MCM2 was positive in 16/19 tumours with invasion. Invasive tumours showed higher expression of ABCG2 (p < 0.01) and MCM2 (p < 0.01) proteins. There was no correlation with differentiation and laterality of the tumours. Non-neoplastic retina was positive for ABCG2 and MCM2. CONCLUSION: ABCG2 and MCM2 were expressed more in invasive tumours. Further studies are needed to understand the significance of ABCG2 and MCM2 expression in retinoblastoma.

ATP Binding Cassette Transporter, Subfamily G, Mem↗
PubMed2006

Stage of presentation and visual outcome of patients screened for familial retinoblastoma: nationwide registration in the Netherlands.

BACKGROUND: In the Netherlands a comprehensive programme for screening just after birth for familial retinoblastoma is taking place. In this report the stage of the disease at the time of detection, by way of screening, and the long term visual outcome in these patients was evaluated. METHODS: A nationwide, retrospective study. From January 1992-July 2004, patients at risk for familial retinoblastoma were screened 1-2 weeks after birth, and investigated for laterality, Reese-Ellsworth classification/International Classification of Retinoblastoma, macular involvement, age of primary retinoblastoma, initial therapy, and visual outcome. RESULTS: 17 patients were diagnosed with familial retinoblastoma. 88.3% developed bilateral, 11.7% unilateral retinoblastoma. Of the 34 eyes, 56% were R-E group I, 16% were group II A-B, 16% were group III A-B, 9% were group IV, 3% were group V. Using the International Classification of Retinoblastoma, 72% were group A, 19% were group B, 6% were group C, 3% were group E. The visual outcome revealed 73.5% of eyes with 20/20-20/40, 26.5% eyes with < or = 20/100-no light perception; 5.9% of eyes were enucleated, all other eyes were treated with local or conservative treatment methods. Of all eyes, 59% had extramacular retinoblastoma, 98% of patients had at least one eye with extramacular retinoblastoma. CONCLUSION: Most familial retinoblastoma patients present as a R-E group I or group A when screened within 2 weeks after birth. Nearly 90% of patients had a long term visual acuity of 20/20-20/40. Despite the common occurrence of macula involvement, bilateral macula involvement was infrequent, and since most eyes were salvaged, good vision was obtained in the majority of patients.

Age of Onset↗
PubMed2003

Tumour angiogenesis as a prognostic factor for disease dissemination in retinoblastoma.

AIM: To evaluate tumour angiogenesis as a predictor of prognosis in retinoblastoma. METHODS: This was a retrospective, non-randomised comparative clinicopathological study. The histopathology from 24 cases of Reese-Ellsworth (RE) group V unilateral retinoblastoma treated by enucleation alone was reviewed. Group I consisted of five patients (four RE group Vb and one group Va) who developed disseminated disease at a mean of 10.4 months after enucleation. The remaining 19 patients constitute group II (18 RE group Vb and 1 group Va), none of whom had developed metastatic disease with a mean follow up of 54 months. None of the 24 patients had evidence of extraocular disease at enucleation. The surgical specimens from patients with unilateral retinoblastoma treated by enucleation at Hospital do Cancer AC Camargo between January 1992 and December 1995 were identified, reviewed and the clinical data recorded. Two subsequent histological sections were prepared. One stained with haematoxylin and eosin for assessment of choroidal and optic nerve invasion, and the other for immunoreaction with an endothelium specific marker (antibody anti-CD 34). The main outcome measures were choroidal and/or optic nerve invasion and quantification of the tumour's relative vascular area (TRVA) obtained by Chalkley counting. RESULTS: Choroidal invasion was present in three eyes of group I (all massive) and six eyes of group II (two focal and four massive). Optic nerve invasion was found in two eyes of group I (all post-laminar) and four eyes of group II (three prelaminar and one post-laminar). There was no statistical difference regarding choroidal or optic nerve between the two groups. The TRVA was the only independent variable found to predict disease dissemination (p = 0.008 by Cox analysis). A TRVA equal to or greater than 3.9% had 100% sensitivity and 79% specificity in predicting disease dissemination. CONCLUSIONS: Quantification of angiogenesis, through measurement of the TRVA, can help to identify patients with retinoblastoma at high risk for disease dissemination after enucleation.

Adult↗
PubMed2001

Trilateral retinoblastoma variant indicative of the relevance of the retinoblastoma tumor-suppressor pathway to medulloblastomas in humans.

Results of recent studies have led investigators to suggest that the retinoblastoma tumor-suppressor (rb) gene plays an underappreciated role in the genesis of brain tumors. Such tumors cause significant rates of mortality in children suffering from hereditary retinoblastoma. It has been assumed that the pineal gland, which is ontogenetically related to the retina, accounts for the intracranial origin of these trilateral neoplasms. To address this issue, the authors describe an unusual trilateral retinoblastoma variant. The authors provide a detailed clinicopathological correlation by describing the case of a child with bilateral retinoblastoma who died of a medulloblastoma. The intraocular and intracranial neoplasms were characterized by performing detailed imaging, histopathological, and postmortem studies. Karyotype analysis and fluorescence in situ hybridization were used to define the chromosomal defect carried by the patient and members of her family. An insertion of the q12.3q21.3 segment of chromosome 13 into chromosome 18 at band q23 was identified in members of the patient's family. This translocation was unbalanced in the proband. The intraocular and cerebellar neoplasms were found to be separate primary neoplasms. Furthermore, the pineal gland was normal and the cerebellar neoplasm arose within the vermis as a medulloblastoma. Finally, the two neoplasms had different and characteristically identifiable cytolological and immunohistochemical profiles. The findings of the present study, taken together with those of recent molecular and transgenic studies, support the emerging concept that rb inactivation is not restricted to central nervous system regions of photoreceptor lineage and that inactivation of this tumor suppressor pathway may be relevant to the determination of etiological factors leading to medulloblastoma in humans.

Cerebellar Neoplasms↗
PubMed2005

[Intraocular tumours].

Intraocular tumours may be benign or malignant. The latter are more numerous, and endanger not only vision but life as well. Two of them deserve special attention: melanoma malignum oculi in adults and retinoblastoma in children. Melanoma malignum may arise from all three areas of the uvea: the iris, the ciliary body and the choroid. The more malignant growths are those which are situated closer to the posterior pole. Histologically the epitheloid cell-type of melanoma is more malignant than those containing only spindle cells. Their treatment depends on the size: in the case of large tumours enucleation is required, while for the smaller ones, radiation therapy can be applied. Retinoblastoma is most common in children of 1-2 years of age. It has familial and sporadic forms. Sixty-seven percent of the inherited-type cases are bilateral. An early symptom in small children is strabismus. A white tissue mass growing into the vitreous is seen on the fundus. A diagnostic feature that can be detected by ultrasound examination is calcification. The tumour may also present intracranially, therefore CT of the skull should be performed in each case. Histologically the tumour contains malignant neuroepithelial cells, which may form a rosette. In the case of large tumours the treatment is enucleation; in bilateral processes the bulbus with the larger mass is removed and the other eye is treated with radiation therapy. In both cases chemotherapy is used according to a prescribed schedule. Metastases to the eye occur most frequently from carcinomas of the breast, lungs or gastrointestinal tract. These are treated with radiotherapy, chemotherapy and hormone therapy. Primary intraocular lymphoma often occurs bilaterally, and may be accompanied by primary lymphoma of the central nervous system (CNS). Some benign tumours are found by chance on routine eye examinations, others due to subjective and objective symptoms.

Eye Neoplasms↗
PubMed1998

[The extension of retinoblastoma into neighboring structures].

Fourteen cases with retinoblastoma has been histologic studied. In eleven cases of them has been observed the invasion in the neighbour structures following the tumoral mass development: four cases in the vitreous, one case in the vitreous and the choroid, sclera and the optic nerve, one case in the vitreous choroid and optic nerve, two cases in the optic nerve. The tumoral invasion in the neighbour structures was observed only at the undifferentiated retinoblastoma.

Child, Preschool↗
PubMed2000

[Cerebrospinal fluid cytology in retinoblastoma--possibility of early detection of tumor dissemination into the CNS].

Retinoblastoma is a malignant tumourous which occurs in childhood. The most important factors which influence possible cure of patients with a retinoblastoma are early detection of the disease, correct diagnosis and adequate therapy. In the submitted case-record the authors provide evidence of the importance of cytological examination of cerebrospinal fluid which is important in retinoblastoma in particular for the follow-up of treatment. Cytological examination of cerebrospinal fluid in this type of tumour is very reliable and can reveal infiltration of tumour cells into the CNS much sooner than imaging methods.

Cerebrospinal Fluid↗