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Christina Stathopoulos, Marie-Claire Gaillard, Francesco Puccinelli, Philippe Maeder, Doris Hadjistilianou, Maja Beck-Popovic, Francis L Munier
PURPOSE: To report the occurrence and management of secondary choroidal infiltration in two retinoblastoma (rb) patients. METHODS: Fundus examination and imaging with spectral domain optical coherence tomography (SD-OCT), B-scan ultrasonography (B-scan), and ultrasound biomicroscopy (UBM). RESULTS: Case 1: A 19-month-old girl with multifocal unilateral group B rb pretreated with intravenous chemotherapy (IVC) was referred for further management...
April 2018: Ophthalmic Genetics
Piyush Chandra, Sneha Shah, Archi Agrawal, Nilendu Purandare, Venkatesh Rangarajan
Extraneural (EN) metastases and leptomeningeal (LM) metastases from certain primary central nervous system (CNS) tumors, such as pinealoblastomas, are not very common and mostly detected on autopsy. Clinical detection of this entity is, however, very rare and can be attributed to increasing overall survival or probably increased use of surveillance imaging in patients with brain tumors. We demonstrate through this case the potential adjunctive role of positron emission tomography/computed tomography in the identification of asymptomatic LM/EN metastases in high-risk primary CNS tumors...
July 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leoen, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted therapies available. This is, in part, due to the lack of highly penetrant and rapid retinoblastoma animal models that facilitate rapid identification of targets that allow therapeutic intervention. Different mouse models are available, all based on genetic deactivation of both Rb1 and Retinoblastoma-like 1 (Rbl1), and each showing different kinetics of retinoblastoma development...
October 14, 2016: Scientific Reports
Aditya Kumar Gupta, Michael Jones, Kristina Prelog, John Bui, Jacqui Zhu, Anthea Ng, Luciano Dalla-Pozza
Patients with familial/heritable retinoblastoma (RB) are at increased risk of developing second malignancies throughout life, including a pineoblastoma (trilateral RB [TRB]) in early childhood. Current guidelines recommend regular surveillance brain imaging for those with heritable RB until 5 years of age. The presence of pineal cysts has been reported in patients with RB. Pineal cysts are thought to arise due to focal degeneration of the pineal gland and can be found incidentally. The finding of pineal abnormalities including cysts in children with RB on imaging is disconcerting, as it raises the possibility of an underlying malignancy, specifically a pinealoblastoma...
September 2016: Pediatric Hematology and Oncology
Imran H Yusuf, Gokularaj Ratnarajan, Richard S Kerr, John F Salmon
INTRODUCTION: The evidence for low cerebrospinal fluid pressure (CSFP) as a key parameter in the pathogenesis of glaucoma is increasing. Primate models have demonstrated the onset normal tension glaucoma (NTG) from experimentally induced chronic intrathecal hypotension; an approach not possible in human subjects. CASE PRESENTATION: A 27-year-old man presented with a central scotoma in his left eye. He had undergone 8 CSF shunt revision procedures over a 25-year period secondary to recurrent low CSFP following surgical excision of a pinealoblastoma, aged 2...
August 2016: Journal of Glaucoma
Hirotake Ichise, Akiko Hori, Seiji Shiozawa, Saki Kondo, Yumi Kanegae, Izumu Saito, Taeko Ichise, Nobuaki Yoshida
Temporal genetic modification of mice using the ligand-inducible Cre/loxP system is an important technique that allows the bypass of embryonic lethal phenotypes and access to adult phenotypes. In this study, we generated a tamoxifen-inducible Cre-driver mouse strain for the purpose of widespread and temporal Cre recombination. The new line, named CM32, expresses the GFPneo-fusion gene in a wide variety of tissues before FLP recombination and tamoxifen-inducible Cre after FLP recombination. Using FLP-recombined CM32 mice (CM32Δ mice) and Cre reporter mouse lines, we evaluated the efficiency of Cre recombination with and without tamoxifen administration to adult mice, and found tamoxifen-dependent induction of Cre recombination in a variety of adult tissues...
July 29, 2016: Experimental Animals
Carol L Shields, Rodrigo Jorge, Emil Anthony T Say, George Magrath, Adel Alset, Emi Caywood, Ann M Leahey, Pascal Jabbour, Jerry A Shields
PURPOSE: The objective of this study was to compare outcomes after intravenous chemotherapy (IVC) versus intra-arterial chemotherapy (IAC) for unilateral retinoblastoma. DESIGN: A retrospective comparative interventional case series. METHODS: Patients with unilateral retinoblastoma managed with either IVC using vincristine, etoposide, and carboplatin or IAC using melphalan with or without topotecan with a minimum of 1-year follow-up were compared...
March 2016: Asia-Pacific Journal of Ophthalmology
Omar Choudhri, Steven D Chang
Pinealoblastomas are WHO grade IV tumors of the pineal region and comprise up to 50% of all pineal parenchymal tumors. They are highly aggressive tumors that spread along the craniospinal axis and are most commonly seen in children. The standard of care involves maximal surgical resection and chemoradiation following tissue diagnosis. We present the rare case of a large pinealoblastoma in an 18-year-old girl who presented with headaches and Parinaud's syndrome from tectal compression. An attempt was made at endoscopic transventricular biopsy of the tumor at an outside hospital, but it was aborted given bleeding at the biopsy site...
January 2016: Neurosurgical Focus
Ahitagni Biswas, Supriya Mallick, Suvendu Purkait, Ajeet Gandhi, Chitra Sarkar, Manmohan Singh, Pramod Kumar Julka, Goura Kishor Rath
PURPOSE: Pinealoblastoma is a highly malignant embryonal tumour of the pineal region affecting children and young adults. We herein intend to report the clinical features and treatment outcome of patients of pinealoblastoma treated at our institute. METHODS: Clinical data was collected by retrospective chart review from 2003-2012. Histopathology slides were reviewed, and relevant immunohistochemistry stains were done. Overall survival (OS) and recurrence-free survival (RFS) were analysed by Kaplan-Meier product-limit method...
August 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Chemchihik Heithem, Ghazi Issaoui, Mejdi Khadraoui, Mohamed Ladib, Walid Naija, Rachid Said
We rapport the case of a patient presenting intra-abdominal metastasis of a pinealoblastoma, via a ventriculo-peritoneal shunt, confirmed by an anatomo-pathologic exam. The patient presented an acute hydrocephalus secondary to DVP dysfunction. The surgical manipulation of this metastasis had caused an acute circulatory deficiency due to massive serotonin release. In this case we analyze pineal gland physiology and serotonin effect on different systems.
2014: Pan African Medical Journal
Siddanna Palled, Sruthi Kalavagunta, Jaipal Beerappa Gowda, Kavita Umesh, Mahalaxmi Aal, Tanvir Pasha Chitraduraga Abdul Razack, Veerabhadre Gowda, Lokesh Viswanath
Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors and can metastasize along the neuroaxis. Pineoblastomas are more common in children than in adults and adults account for <10% of patients. The management of pinealoblastoma is multimodality approach, surgery followed with radiation and chemotherapy. In view of aggressive nature few centres use high dose chemotherapy with autologus stem cell transplant in newly diagnosed cases but in recurrent setting the literature is very sparse...
2014: Case Reports in Oncological Medicine
C Mottolese, A Szathmari, P-A Beuriat
The knowledge of the incidence of pineal tumours is important not only for diagnostic care but also for its therapeutic programme. We reviewed the incidence of pineal tumours reported in literature in an attempt to establish if a difference existed between pineal gland tumours and the pineal region tumours as different authors use both expressions to indicate the same thing. The rate of frequency of these tumours is useful to guide the therapeutic choice for patients as the decisional tree is completely different for either germ cell tumours, pineal gland tumours or pineal gliomas and eventually papillary tumours of the pineal region...
April 2015: Neuro-Chirurgie
Nicolas U Gerber, Katja von Hoff, Anika Resch, Holger Ottensmeier, Robert Kwiecien, Andreas Faldum, Christiane Matuschek, Dagmar Hornung, Michael Bremer, Martin Benesch, Torsten Pietsch, Monika Warmuth-Metz, Joachim Kuehl, Stefan Rutkowski, Rolf D Kortmann
PURPOSE: The prognosis for children with central nervous system primitive neuroectodermal tumor (CNS-PNET) or pinealoblastoma is still unsatisfactory. Here we report the results of patients between 4 and 21 years of age with nonmetastatic CNS-PNET or pinealoblastoma diagnosed from January 2001 to December 2005 and treated in the prospective GPOH-trial P-HIT 2000-AB4. METHODS AND MATERIALS: After surgery, children received hyperfractionated radiation therapy (36 Gy to the craniospinal axis, 68 Gy to the tumor region, and 72 Gy to any residual tumor, fractionated at 2 × 1 Gy per day 5 days per week) accompanied by weekly intravenous administration of vincristine and followed by 8 cycles of maintenance chemotherapy (lomustine, cisplatin, and vincristine)...
July 15, 2014: International Journal of Radiation Oncology, Biology, Physics
D Frappaz, C Faure Conter, A Szathmari, A Valsijevic, C Mottolese
The management of pineal tumors is a model for multidisciplinarity. Apart from an emergency situation that requires immediate shunting of cerebrospinal fluid (CSF), the initial discussion should involve at least a radiologist, a surgeon, a neurologist and an oncologist. The initial decision is whether obtaining a histological proof is obligatory. It depends on age and ethnicity, site (mono- or bifocality), presence of markers in serum as well as CSF, and/or of malignant cells in the CSF. In cases of marker elevation indicating a germ cell tumor, front line chemotherapy can avoid dangerous immediate surgery...
April 2015: Neuro-Chirurgie
Partha S Ghosh, Margherita Milone
BACKGROUND: Limited data are available on radiation-induced myopathy (RIM) in adult cancer survivors. METHODS: We retrospectively reviewed the clinical, electrophysiological, serological, radiological and pathological findings of patients with RIM seen in the neurology clinic over a 11-year period (2002-2013). RESULTS: Out of 251 patients with radiotherapy-induced neuromuscular complications, 21 had RIM (11 men and 10 women). Cancers included: Hodgkin's lymphoma (13), non-Hodgkin's lymphoma (one), pinealoblastoma (one), tongue (two), nasopharyngeal (one), thyroid (one) and testicular cancer (two)...
February 2015: Journal of Neurology, Neurosurgery, and Psychiatry
Anna Rita Giovagnoli, Rute Flávia Meneses, Antonio Silvani, Ida Milanesi, Laura Fariselli, Andrea Salmaggi, Amerigo Boiardi
This study analyzed the subjective facets of quality of life (QoL) and their relation to the type of brain tumor (BT) and phase of disease. Two hundred and ninety-one patients with pinealoblastoma, medulloblastoma, low-grade glioma, anaplastic astrocytoma, or glioblastoma were evaluated. With respect to 110 healthy controls, patients in the phases of radiotherapy/chemotherapy, stable disease, or tumor recurrence were significantly more anxious and depressed compared with patients in the early postoperative period...
May 2014: Journal of Neurology
N Ruiz Del Río, J M Abelairas Gómez, F J Alonso García de la Rosa, J M Peralta Calvo, A de Las Heras Martín
OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones...
January 2014: Archivos de la Sociedad Española de Oftalmología
Sanja Hajnsek, Josip Paladino, Zeljka Petelin Gadze, Sibila Nanković, Goran Mrak, Velimir Lupret
In the last 20 years neurological and neurosurgical follow up of our patients with pineal region expansions (118 patients) pointed to certain clinical and neurophysiological regularities. We performed retrospective study which included 84 patients with pineal region expansions in the period from 1992 to 2009. The study included 55 women and 29 men, mean age 30.08 +/- 13.93 years, with positive brain magnetic resonance imaging (MRI)--70 patients (83.4%) had simple pineal gland cysts, and 14 patients (16.67%) had expansive process in pineal region with compressive effect...
March 2013: Collegium Antropologicum
Priya Kumthekar, Sean A Grimm, Michael J Avram, Virginia Kaklamani, Irene Helenowski, Alfred Rademaker, Mary Cianfrocca, William Gradishar, Jyoti Patel, Mary Mulcahy, Katie McCarthy, Jeffrey J Raizer
Brain metastases (BM) and leptomeningeal metastases (LM) are devastating neurologic complications. Pemetrexed is a multi-targeted anti-folate agent approved for treatment of nonsquamous non-small cell lung cancer but has anti-tumor activity in other solid tumors. We performed two trials using pemetrexed in patients with BM and LM to assess CSF penetration and anti-tumor activity. Patients were treated with intravenous pemetrexed at doses of 500 (n = 3), 750 (n = 3), 900 (n = 12) or 1,050 mg/m(2) (n = 3) every 3 weeks...
April 2013: Journal of Neuro-oncology
C L Shields, E M Fulco, J D Arias, C Alarcon, M Pellegrini, P Rishi, S Kaliki, C G Bianciotto, J A Shields
In this report, we explore retinoblastoma diagnostic accuracy and review chemotherapy alternatives for retinoblastoma using intravenous, intra-arterial, periocular, and intravitreal routes. A review of 2775 patients referred for management of retinoblastoma, disclosed 78% with confirmed retinoblastoma and 22% with simulating lesions, termed pseudoretinoblastomas. Children ≤2 years old showed leading pseudoretinoblastomas of persistent fetal vasculature, Coats disease, and vitreous haemorrhage, whereas those >5 years showed simulators of Coats, toxocariasis, and familial exudative vitreoretinopathy...
February 2013: Eye
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