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Chise Kato, Kentaro Fujii, Yuto Arai, Hiromi Hatsuse, Kazuaki Nagao, Yoshinaga Takayama, Kouzou Kameyama, Katsunori Fujii, Toshiyuki Miyashita
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Five mutations were localized within the invariant GT-AG splice site, whereas the other five mutations occurred outside the invariant GT-AG site including the last exonic nucleotide...
August 25, 2016: Familial Cancer
Tao Jiang, Junmei Wang, Ying Wang, Chunde Li
BACKGROUND: Very young children with Gorlin syndrome are at risk for developing medulloblastoma. Patients with Gorlin syndrome may have multiple system abnormalities, including basal cell carcinomas, jaw cysts, desmoplastic medulloblastoma, palmar/plantar pits, rib abnormalities, and intracranial falx calcification. The early diagnosis of Gorlin syndrome in desmoplastic medulloblastoma patients is very important because these patients should receive chemotherapy as a first-line treatment and should avoid radiotherapy as much as possible...
August 12, 2016: World Journal of Surgical Oncology
Benjamin H Kann, Henry S Park, Nataniel H Lester-Coll, Debra N Yeboa, Viviana Benitez, Atif J Khan, Ranjit S Bindra, Asher M Marks, Kenneth B Roberts
Importance: Postoperative radiotherapy to the craniospinal axis is standard-of-care for pediatric medulloblastoma but is associated with long-term morbidity, particularly in young children. With the advent of modern adjuvant chemotherapy strategies, postoperative radiotherapy deferral has gained acceptance in children younger than 3 years, although it remains controversial in older children. Objective: To analyze recent postoperative radiotherapy national treatment patterns and implications for overall survival in patients with medulloblastoma ages 3 to 8 years...
August 4, 2016: JAMA Oncology
Tao Jiang, Yuqi Zhang, Junmei Wang, Jiang Du, Zhenyu Ma, Chunde Li, Raynald Liu, Yazhuo Zhang
BACKGROUND: Medulloblastoma is the most common intracranial malignancy in children; with comprehensive treatment the 5-year overall survival (OS) is now greater than 80 %. Only few studies have addressed the relation of tumor location with patient's prognosis. Based on experiences in our institution, we further classified the tumor location. This study aimed to investigate the impact of tumor location and fourth ventricle infiltration in medulloblastoma (MB) prognosis. METHODS: We retrospectively followed all MB patients at the Beijing Tiantan Hospital between 2004 and 2007 to investigate treatment outcomes and prognostic factors in MB patients...
June 2016: Acta Neurochirurgica
Ramandeep Singh Arora, Julia M Challinor, Scott C Howard, Trijn Israels
The Paediatric Oncology in Developing Countries (PODC) committee of International Society of Paediatric Oncology (SIOP) has 10 working groups that provide a forum for individuals to engage, network, and implement improvements in the care of children with cancer in low- and middle-income countries. The development of adapted guidelines (medulloblastoma, retinoblastoma, Wilms tumor, neuroblastoma, retinoblastoma, Burkitt lymphoma, supportive care), advocacy and awareness (on hospital detention and essential drugs), education and training, and global mapping (nutritional practice, abandonment rates, and twinning collaborations) have been the initial areas of focus, and the impact of some of these activities is evident, for example, in the SIOP Africa PODC Collaborative Wilms tumor project...
March 2016: Pediatric Blood & Cancer
Jeevan Lata, Nitin Verma, Amandeep Kaur
OBJECTIVE: In Indian scenario, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. The clinical, radiological, and histopathological findings and major and minor criteria in five cases of NBCCS in North Indian population have been presented along with a discussion of the role of gene mutation analysis in early diagnosis of syndrome. MATERIALS AND METHODS: The diagnostic findings of Gorlin-Goltz syndrome in 5 patients were compared with other reports in Indian population and with reports of this syndrome in other parts of the world...
September 2015: Contemporary Clinical Dentistry
David I Sandberg, Marcia L Kerr
PURPOSE: Ventricular access devices (VADs) are commonly placed in the lateral ventricle but rarely placed in other ventricular compartments. This manuscript describes technical aspects of VAD placement into the fourth ventricle for the purpose of treating malignant posterior fossa brain tumors. METHODS: As part of a pilot clinical trial to treat recurrent malignant brain tumors in children, seven patients underwent posterior fossa craniotomy and placement of a ventricular catheter under direct vision into the fourth ventricle...
April 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Sherri Y Huang, Jer-Yen Yang
Medulloblastoma (MB), a primitive neuroectomal tumor of the cerebellum, is the most common malignant pediatric brain tumor. The cause of MB is largely unknown, but aberrant activation of Hedgehog (Hh) pathway is responsible for ~30% of MB. Despite aggressive treatment with surgical resection, radiation and chemotherapy, 70%-80% of pediatric medulloblastoma cases can be controlled, but most treated patients suffer devastating side effects. Therefore, developing a new effective treatment strategy is urgently needed...
2015: Cancers
Tai-Tong Wong, Yen-Lin Liu, Donald Ming-Tak Ho, Kai-Ping Chang, Muh-Lii Liang, Hsin-Hung Chen, Yi-Yen Lee, Feng-Chi Chang, Shih-Chieh Lin, Ting-Rong Hsu, Kuo-Wei Chen, Wei-Kang Kwang, Wu-Yu Hou, Chung-Yih Wang, Sang-Hue Yen, Wan-You Guo, Yi-Wei Chen
Medulloblastoma (MB) is a type of malignant tumor arising only in the cerebellum that was first defined by Cushing and Bailey in 1920s. In this review paper, we trace the evolution of risk stratification and the correlated changing concept of management in the past years. Outcome analysis of the hospital series of the Taipei Veterans General Hospital, Cheng Hsin General Hospital, and Taipei Medical University Hospital was performed to correlate prognostic indicators with reported studies. The purpose is to provide clues for age-specific and risk-adjusted optimal, effective, but beneficial and protective treatment strategies of these tumors in children...
October 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Charles Raybaud, Vijay Ramaswamy, Michael D Taylor, Suzanne Laughlin
INTRODUCTION: Modern understanding of the relation between the mutated cancer stem cell and its site of origin and of its interaction with the tissue environment is enhancing the importance of developmental anatomy in the diagnostic assessment of posterior fossa tumors in children. The aim of this review is to show how MR imaging can improve on the exact identification of the tumors in the brainstem and in the vicinity of the fourth ventricle in children, using both structural imaging data and a precise topographical assessment guided by the developmental anatomy...
October 2015: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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