Trilateral retinoblastoma is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni or bilateral retinoblastoma. It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children. Trilateral retinoblastoma trb is a rare disease associating intraocular retinoblastoma with intracranial primitive neuroectodermal tumor. Trilateral retinoblastoma is a wellrecognized syndrome that occurs in 5% to 15% of patients with heritable retinoblastoma. Abstract background trilateral retinoblastoma refers to bilateral.
Lueder raises an interesting question in reference to our successful treatment of trilat eral retinoblastoma. Retinoblastoma rb inheritence, staging and special types. The mean time from diagnosis of trilateral retinoblastoma to death was 6. Pdf trilateral retinoblastoma is a rare, but well recognized syndrome. Although its incidence is low, the prognosis is very poor. It is estimated that roughly twothirds of pediatric retinoblastoma cases are unilateral, and the remaining onethird of. Iris rubeosis, hypopyon, hyphema, buphthalmia, orbital cellulites and exophthalmia may also be observed. The presence of a second midline tumor in the suprasellar or parasellar region is referred to as quadrilateral retinoblastoma 15. Trilateral retinoblastoma radiology reference article.
Trilateral retinoblastoma trb is a wellknown syndrome associating hereditary retinoblastoma rb with an intracranial neuroblastic tumor arising usually in the pineal region, rarely at the suprasellar or parasellar site. Jul 18, 2012 trilateral retinoblastoma trb is a disease associating unilateral or bilateral retinoblastoma rb with an intracranial midline primitive neuroectodermal tumor pnet which usually arises in the pineal gland pg 77 %. According to pediatric retinoblastoma research, bilateral retinoblastoma is known to present at an earlier age than unilateral retinoblastoma. We certainly agree with the hypothesis that the earlier the diagnosis, the better the prognosis.
Seven cases of trilateral retinoblastoma american journal of. The patients who received no therapy survived an average of 1. Survival and ocular preservation in a longterm cohort of. We diagnosed both cases as trilateral retinoblastoma, which in our experience is a relatively frequent cause of mortality in patients with heritable retinoblastoma. Retinoblastoma is staged using the international retinoblastoma staging system irss.
Trilateral retinoblastoma trb is a syndrome involving midline intracranial malignancies in children with the heritable form of retinoblastoma. In about a fourth of the cases the tumor develops in another intracranial region, most commonly supra or parasellar nonpineal trb, but there are reported. Pdf trilateral retinoblastoma victor arias academia. Get an overview of retinoblastoma and the latest key statistics in the us. Although it may have been a pinealoblastoma, patients with retinoblastoma do develop other curious central nervous system lesions that may re spond to chemotherapy. The patients who received any form of definitive therapy survived 9. Nov 20, 2000 however, in 1 study trilateral retinoblastoma accounted for 6 of 12 deaths 50% during the first 5 years after the diagnosis of retinoblastoma. Retinoblastoma is a disease in which malignant cancer cells form in the tissues of the retina. The outcome is usually fatal because of secondary spinal dissemination.
The authors case with the longest followup never had histologie documentation. Trilateral retinoblastoma paulino 1999 cancer wiley. Children with a family history of retinoblastoma should have eye exams to check for retinoblastoma. The purposes of this presentation are to describe and illustrate a typical case of trilateral retinoblastoma and toreemphasize reasons for believing that in. Possible signs of retinoblastoma include white pupil and eye pain or redness. The retinoma, also called retinocytoma, is a benign retinal tumor, which affects about 2% of children who carry the retinoblastoma gene mutation. Methods data collection onehundred thirtyone patients who received a diagnosis of retinoblastoma were consecutively registered in kyushu university hospital from 1984 to 2017 fig. If any of the three patients has recurrence of 648 november, 1992 american journal of ophthalmology. In hereditary rb patients, the neural ectoderm destined to form both retinal and pineal tissue is prone to develop multifocal neoplasms. Children with germline mutations are also at increased risk of developing trilateral retinoblastoma unilateral or bilateral retinoblastomas and pineoblastoma 11 and osteosarcoma 2,3 and usually present early median age of diagnosis 12 months 6. We analyzed 211 cases of trilateral retinoblastomas. Retinoblastoma occurs in heritable and nonheritable forms.
Trilateral retinoblastoma trb is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma rb associated with an intracranial neuroblastic tumor. However, in 1 study trilateral retinoblastoma accounted for 6 of 12 deaths 50% during the first 5 years after the diagnosis of retinoblastoma. Children with intraocular retinoblastoma have an excellent overall and ocular survival. Retinoblastoma orphanet journal of rare diseases full text. In order to avoid the morbidity of enucleation and external beam radiation, treatments for isolated intraocular retinoblastoma have progressively moved toward targeted. The inclusion criteria were patients who received a diagnosis and. Six of these 7 patients had bilateral retinoblastoma, and 1 patient had unilateral retinoblastoma. Retinoblastoma rb is a rare form of cancer that rapidly develops from the immature cells of a retina, the lightdetecting tissue of the eye. Trilateral retinoblastoma paulino 1999 cancer wiley online. The incidence of these intracranial tumors in either unilateral or bilateral retinoblastoma patients is 1. Retinoblastoma rb is the most common pediatric intraocular malignancy, with an estimated incidence of 1 in 15,000. We describe a series of patients treated with intensive chemotherapy, defined as the intention to include highdose chemotherapy with autologous hematopoietic stem cell rescue.
Both had a fatal outcome, with survival times of only 4 and 8 months respectively. These tumors usually occur in the pineal, parasellar, or suprasellar regions several years after successful management of ocular retinoblastomas without evidence of. This relationship highlights the close relationship between these highly aggressive small round blue cell tumors. Conclusion chemoreduction protects against the highly fatal associated intracranial neuroblastic tumor trilateral retinoblastoma. Altogether, the trilateral retinoblastoma faces a poor prognosis. Chemoreduction for retinoblastoma may prevent intracranial. Thedevelopmentofamidline,undifferentiated malignant neoplasm in. About 5% of children with retinoblastoma from germline mutation of the rb1 gene are at risk of developing trilateral retinoblastomaintraocular retinoblastoma combined with a histologically similar brain tumour, most commonly in the pineal gland. Sporadic nonheritable retinoblastoma in about 2 out of 3 children with retinoblastoma, the abnormality in the rb1. Retinoblastoma is sometimes caused by a gene mutation passed from the parent to the child. It was first reported in 1971 and was differentiated from cerebral metastasis in 1977.
Trilateral retinoblastoma trb is a rare syndrome characterized by the association of an intracranial neuroblastic tumor, usually in the pineal gland or in the supraparasellar region, with either unilateral or, more frequently, bilateral rb. We included 90 studies, with 174 patients with trilateral retinoblastoma. Trilateral retinoblastoma with unilateral eye involvement. Trilateral retinoblastoma has been lethal in virtually all cases previously reported. The term \ trilateral retinoblastoma \ was first used in 1980. Trilateral retinoblastoma is the association of retinoblastoma and primary intracranial neuroblastic malignancy. Pdf trilateral retinoblastoma trb is a rare disease associating intraocular. A case report trilateral retinoblastoma is a rare, but well recognized syndrome. This article reports four cases of trb and discusses the role of neuroimaging screening for early detection.
It is the most common intraocular malignancy of infancy and childhood. In most cases trilateral retinoblastoma presents itself as pineoblastoma pineal trb. Trilateral retinoblastoma refers to the combination of retinoblastoma usually bilateral and pineoblastoma. A child who has hereditary retinoblastoma is at risk for developing trilateral retinoblastoma and other cancers. Background trilateral retinoblastoma trb is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma rb associated with an intracranial neuroblastic tumor. A tumour free probability, and therefore was the cutoff. Aug 25, 2006 retinoblastoma is a rare eye tumor of childhood that arises in the retina. Thedevelopmentofamidline,undifferentiated malignant neoplasm in unilateral retinoblas. In hereditary rb patients, the neural ectoderm destined to form both retinal and pineal tissue is prone to develop. A tumour free probability, and therefore was the cutoff in the ct1 group in the 8th edition of the ajcc staging. A child who has heritable retinoblastoma has an increased risk of trilateral. The recent overview by paulino describes 94 cases of trilateral retinoblastoma. Full text full text is available as a scanned copy of the original print version.
We describe two cases of trilateral retinoblastoma from a total of 141 cases of retinoblastoma seen over an 8. Retinoblastoma, a neuroblastic tumor, is the most common primary intraocular malignancy of childhood. Links to pubmed are also available for selected references. Abstract in this report, three new cases of trilateral retinoblastoma are presented. Trilateral retinoblastoma trb is a rare disease associating. Trilateral retinoblastoma is the association of hereditary bilateral or unilateral retinoblastoma with a pineal neuroblastic tumour. Backgroundtrilateral retinoblastoma trb is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma rb associated with an intracranial neuroblastic tumor. The 8 edition of the ajcc staging for retinoblastoma. Mar 01, 2007 background trilateral retinoblastoma trb is a syndrome consisting of unilateral or bilateral hereditary retinoblastoma rb associated with an intracranial neuroblastic tumor. A metaanalysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma journal of clinical oncology, vol. Clinical presentation, treatment, and outcome of trilateral.
Trilateral retinoblastoma with suprasellar tumor and. Trb detected on bbi and were free of disease mean survival, 61 months. The two most frequent symptoms revealing retinoblastoma are leukocoria and strabismus. Kaplanmeier analysis was used to estimate survival, and statistical significance was assessed by using a logrank test. Retinoblastoma treatment pdqpatient version national. Trilateral retinoblastoma affects approximately 5% of children with a constitutional rb1 mutation. However, the brain tumor is not due to metastasis, but the histological findings are similar to those of retinoblastoma. Histologically similar tumors may occur in the pineal, suprasellar or parasellar regions of patients with ocular retinoblastoma, also known as trilateral retinoblastoma. Retinoblastoma is a rare eye tumor of childhood that arises in the retina. For survivors of hereditary retinoblastoma, the risk of developing other cancers later in life is also higher than average to learn more, see after treatment for retinoblastoma4.
Retinoblastoma treatment pdqhealth professional version. Presentation is most frequently with leukocoria or loss of redeye reflex. Learn about the risk factors for retinoblastoma and if there are things that might help lower risk. Our results suggest that improvements in overall survival are attributable to improved chemotherapy regimens and early detection of pineal trilateral retinoblastoma. The overall reported incidence of trilateral retinoblastoma in patients with unilateral or bilateral retinoblastoma is 1. Patients usually present with leukokoria white reflex or. Get a printable copy pdf file of the complete article 8. This relationship highlights the close relationship between these highly aggressive small round blue cell tumors it affects only a minority of patients with retinoblastoma 1. Though most children survive this cancer, they may lose their vision in the affected eyes or need to have the eye removed. The inclusion criteria were patients who received a. Therefore, the proportion of our patients with bilateral retinoblastoma who developed a midline intracranial tumor 830, or.
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