Atypical Teratoid Rhabdoid Tumour : From Tumours to Therapies

Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ≤1 year of age and represent approximately 1–2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival. Recent epigenetic and transcriptional studies highlight three subgroups of ATRT, each with distinct clinical and molecular characteristics with corresponding therapeutic sensitivities, including epigenetic targeting, and inhibition of tyrosine kinases or growth/lineage specific pathways.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

Atypical Teratoid Rhabdoid Tumour : From Tumours to Therapies

Atypical teratoid rhabdoid tumours (ATRTs) are the most common malignant central nervous system tumours in children ≤1 year of age and represent approximately 1–2% of all pediatric brain tumours. ATRT is a primarily monogenic disease characterized by the bi-allelic loss of the SMARCB1 gene, which encodes the hSNF5 subunit of the SWI/SNF chromatin remodeling complex. Though conventional dose chemotherapy is not effective in most ATRT patients, high dose chemotherapy with autologous stem cell transplant, radiotherapy and/or intrathecal chemotherapy all show significant potential to improve patient survival. Recent epigenetic and transcriptional studies highlight three subgroups of ATRT, each with distinct clinical and molecular characteristics with corresponding therapeutic sensitivities, including epigenetic targeting, and inhibition of tyrosine kinases or growth/lineage specific pathways.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

The Vanishing Veins: Difficult Venous Access in a Patient Requiring Translumbar, Transhepatic, and Transcollateral Central Catheter Insertion

Central venous catheter placement is indicated in patients requiring long-term therapy. With repeated venous catheterisations, conventional venous access sites can be exhausted. This case illustrates the expanding role of radiology in managing difficult venous access. We present a case of translumbar, transhepatic, and transcollateral placement of central catheter in a woman with a difficult venous access problem who required lifelong parenteral nutrition secondary to short bowel syndrome. This case highlights the technical aspects of interventional radiology in vascular access management.

A Case Report of Atypical Teratoid/Rhabdoid Tumour in a 9-Year-Old Girl

Primary central nervous system atypical rhabdoid/teratoid tumour (ATRT) is a rare and highly malignant tumour that tends to occur in infancy and early childhood. The majority of tumours (approximately two-third) arise in the posterior fossa. The optimal treatment for ATRT remains unclear. Options of treatment include surgery, radiotherapy, and chemotherapy. Each of their role is still not clearly defined until now. The prognosis of the disease is generally unfavourable. This is a case report of ATRT in an atypical site in a 9-year-old girl.

Atypical TeratoidJRhabdoid Tumour of Brain

Primitive neuroectodermal tumor (PNET) / medulloblastoma (MB) are the most commonmalignant central nervous tumors of the first decade of life. Atypical teratoid / rhabdoid tumor (ATT / RT) is a tumor of infancy and childhood although occasional cases have also been described in adults. ATT/RT has a characteristic histopathological, immunocytochemical and ultrastructural features. ATT /RT is a rare tumor, incidence of which remains to be defined with only hundred published cases. The present report docurilents the clinical features, histological and immunohistochemical findings of a case of ATT / RT.