1/28. Is screening for primitive neuroectodermal tumors in patients with unilateral retinoblastoma necessary?retinoblastoma is the most common childhood intraocular tumor, occurring in 1 of 18,000 live births. retinoblastoma may occur as a germinal mutation or a somatic mutation. Forty percent of retinoblastoma cases are caused by a germline mutation and include those patients with a positive family history of the disease. Children with hereditary forms usually have multifocal, bilateral retinoblastoma, whereas children with the somatic form have unilateral, unifocal disease. However, up to 15% of cases of sporadic unilateral retinoblastoma may be hereditary. It is important to recognize that this subgroup of unilateral patients remains at risk for the development of second tumors as well as second primary tumors of the intracranial midline, or "trilateral retinoblastoma." We report a case of a 2-month-old child with unilateral retinoblastoma in whom pinealoblastoma subsequently developed.- - - - - - - - - - ranking = 1keywords = retinoblastoma (Clic here for more details about this article) |
2/28. Adjuvant immunotherapy for malignant brain tumors in infants and children.Immune deficiency of immunocompetent cells or of humoral factors are essential causes of tumor growth. The authors have investigated the transfer of immunocompetent cells - allogeneic bone marrow cell transfusion and white blood cell intracranial infusion - for the treatment of 11 malignant gliomas in infants and children as an adjuvant to surgery, radiation and/or chemotherapy. Ten cases, from 3 months to 11 years, received bone marrow cell transfusion. Two medulloblastomas and 3 pontine gliomas are dead. Five cases are alive and well 37-65 months following surgery. Among these two posterior fossa neoplasms, a medulloblastoma and a glioblastoma have survived 46 and 65 months, respectively. One cerebral glioblastoma received allogeneic white blood cells infused locally into the tumor bed: it recurred 1 year following surgery, chemotherapy, and immunotherapy. Cytolysis of the tumor cells by sensitized lymphoid cells were demonstrated in this case. The role of immunotherapy should be limited at the present time to adjuvant therapy until its effect on tumor growth is statistically confirmed. The results so far are promising, and improvement of the immunological approach in treating malignant brain tumors is under way.- - - - - - - - - - ranking = 0.0075445760895055keywords = glioblastoma, glioma (Clic here for more details about this article) |
3/28. Trilateral retinoblastoma.retinoblastoma is the most common intraocular malignancy of childhood. Trilateral retinoblastoma is a syndrome characterized by bilateral ocular retinoblastoma in conjunction with an intracranial neuroblastic neoplasm in the pineal body, or in supraseller or parasellar location. We report the case of a three year old girl with trilateral retinoblastoma and review the literature on this subject.- - - - - - - - - - ranking = 0.77777777777778keywords = retinoblastoma (Clic here for more details about this article) |
4/28. retinoblastoma associated with chromosomal 13q14 deletion mosaicism.PURPOSE: To assess the risk of retinoblastoma developing in children with microscopic chromosomal with mosaic deletions involving 13q14. DESIGN: Case report and systematic literature review. PARTICIPANTS: Data on 29 patients with a mosaic and 107 patients with a nonmosaic somatic deletion of chromosome 13q14 were compared. MAIN OUTCOME MEASURES: Age at diagnosis, frequency, and laterality of retinoblastoma. CASE REPORT: A dysmorphic baby, who carried a chromosomal deletion involving 13q14 in 34% of peripheral blood lymphocytes, had neuroradiologic evidence of retinoblastoma at the age of 2 weeks. She developed trilateral retinoblastoma, a pineal neuroblastic tumor, at the age of 10 months. The diagnosis of her tumor was delayed because of misjudgment of risk of retinoblastoma developing. RESULTS: meta-analysis revealed no difference between children with mosaic and nonmosaic chromosomal deletion of 13q14 regarding the age at diagnosis, laterality of tumor, and presence of family history for retinoblastoma. A lower percentage of somatic cells with mosaic deletion did not predict a higher age at diagnosis or unilateral tumors. No statistically significant difference was noted regarding the presence of mental retardation, dysmorphic features, and anomalies of internal organs between mosaic and nonmosaic deletions. Only 7% (95% confidence interval, 1-23) of 29 patients who had a mosaic chromosomal deletion including 13q14 were not reported to develop retinoblastoma. CONCLUSIONS: Whenever a 13q14 deletion is diagnosed, immediate ophthalmologic evaluation is recommended to ensure prompt diagnosis of retinoblastoma. Mosaic and nonmosaic chromosomal deletions of 13q14 do not differ regarding the risk and type of retinoblastoma developing.- - - - - - - - - - ranking = 1keywords = retinoblastoma (Clic here for more details about this article) |
5/28. retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14.We report on a 10-year-old boy with a normal karyotype and a chromosome 13q14 deletion of the retinoblastoma gene (RB1) by fluorescence in situ hybridization (FISH). He showed subtle signs of overgrowth, including macrocephaly, hepatomegaly, and inguinal hernia. The boy also had cryptorchism and mild developmental delay. In his first months of life, variant Wiedemann-Beckwith syndrome was tentatively suspected and he was included in a careful tumor prevention program. At the age of 11 months, bifocal retinoblastoma of the left eye was diagnosed. pinealoma was suspected at the age of 19 months and was removed by neurosurgery at the age of 29 months. At 4 years and 4 months, the deletion of the RB1 gene was suspected on clinical grounds and was diagnosed by FISH and molecular studies. At that time, he was a near-normal healthy playful kindergarten child, height 107 cm (-0.3 SD), OFC 52.5 cm ( 0.8 SD), developmental age 3-3.5 years. The combination of retinoblastoma, pinealoma, and deletion of the RB1 gene diagnosed by FISH has not been reported previously. The deletion spans at least 370-420 kb in size and is predicted to include proximal and distal neighbor genes. This report may assist in establishing the clinical signs of the contiguous gene syndrome at the RB1 locus on 13q14.- - - - - - - - - - ranking = 0.33333333333333keywords = retinoblastoma (Clic here for more details about this article) |
6/28. One stage removal of periaqueductal glioma in adult via infratentorial supracerebellar and transaqueductal approaches.Most cases of periaqueductal tumours were found in children and adolescents, so treatment modalities in adults are not evaluated yet. A case of 40 years old woman with tectal and periaqueductal protoplasmatic astrocytoma grade II with history of headache and episodes of syncope is described. MRI showed triventricular hydrocephalus. After a shunt procedure she was doing well for about 15 months. Then she became somnolent, disoriented, and Parinaud syndrome appeared. The solid tumour was resected microsurgically in one stage. A part of it was removed via the supracerebellar infratentorial approach and tectal plate incision. The remainder of the tumour was removed through the fourth ventricle and the aqueduct which was filled by tumour mass. Postoperatively bilateral ptosis, vertical gaze palsy, slight horizontal gaze limitation and pupilloplegia were the main neurological sequelae. They all almost completely resolved within a year. The patient is doing well two and half years after the surgery. MRI showed patency of the aqueduct and no residual tumour. The authors suggest, that direct surgical attempt at total tumour removal should be considered in cases of periaqueductal and tectal gliomas. They also believe it is the first described case, in whom this type of tumour was totally removed by a combined transtectal and transaqueductal route.- - - - - - - - - - ranking = 0.00082326523477448keywords = glioma (Clic here for more details about this article) |
7/28. Concurrent benign teratoid medulloepithelioma and pineoblastoma.Teratoid medulloepithelioma of the ciliary body is a rare tumor usually occurring in young children. Primary tumors of the pineal gland are also quite rare and have a similar age distribution. We report the case of a 2-year-old girl who had a leukocoria of the right eye. cataract surgery was performed; however, the patient developed a total retinal detachment refractory to treatment. She eventually developed early changes of phthisis bulbi and underwent an evisceration. Histopathologic examination revealed a benign teratoid medulloepithelioma containing islands of hyaline cartilage and rhabdomyoblasts. During the course of her evaluation, a pineoblastoma was discovered and surgically excised. While the association of pineal tumors with retinoblastomas has been well established, no such association has been reported for medulloepitheliomas. To our knowledge, this is the first recorded case of a benign teratoid medulloepithelioma occurring concurrently with a pineoblastoma.- - - - - - - - - - ranking = 0.11111111111111keywords = retinoblastoma (Clic here for more details about this article) |
8/28. Intracranial malignancy in patients with bilateral retinoblastoma.Tumors from two patients with bilateral retinoblastoma and intracranial malignancies were studied from a clinical, histopathological, and an immunohistochemical standpoint. An antiserum derived against tissue cultured Y-79 retinoblastoma cells was utilized in order to examine the surface and cytoplasmic antigens of the two brain tumors, histopathologically diagnosed as an embryonal cell carcinoma (case 1), a pinealoblastoma (case 2), and one ocular retinoblastoma. The two brain tumors reacted with the antiserum to different degrees. In comparison, the ocular tumor reacted strongly. None of the tissues examined were found to contain retinal S- or P-antigen. The concept of retinoblastomas arising de novofrom the pineal gland and the association of intracranial malignancy occurring in retinoblastoma is stressed. The antigenic and immunologic relationships between normal retina and pineal gland and retinoblastoma, neuroblastoma, and pinealoblastomas are discussed.- - - - - - - - - - ranking = 1.1111111111111keywords = retinoblastoma (Clic here for more details about this article) |
9/28. Pineal ganglioglioma in a young girl: a case report and review of the literature.Gangliogliomas are exceedingly rare in the pineal region. We present the case of a 16-year-old girl diagnosed with a pineal-region mass, initially diagnosed as a germ-cell tumor on the frozen section examination. The tumor was resected completely despite the frozen section results. The final pathological diagnosis was that of a ganglioglioma. This diagnosis obviated the need for postoperative adjuvant therapy. Gangliogliomas, although rare, should be considered in the differential diagnosis of the pineal region tumors. Frozen section results can be misleading since the large neuronal cells can mimic germ cells. Gangliogliomas are not sensitive to adjuvant therapy. Initial gross total resection should be attempted if the anatomy is favorable.- - - - - - - - - - ranking = 0.0013172243756392keywords = glioma (Clic here for more details about this article) |
10/28. Central neurogenic hyperventilation in a conscious man with CSF dissemination from a pineal glioblastoma.A 40-year old conscious man developed central neurogenic hyperventilation (CNH). He had tumor dissemination to the brainstem 10 months after undergoing partial removal of a pineal glioblastoma. To the best of our knowledge, this is the first report of CNH caused by the cerebrospinal fluid dissemination of a tumor. The authors suggest that multiple lesions from an infiltrative tumor in the brainstem may give rise to CNH and further our understanding of the pathogenesis of CNH.- - - - - - - - - - ranking = 0.018038174988989keywords = glioblastoma (Clic here for more details about this article) |
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