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Medulloblastoma: optimizing care with a multidisciplinary approach.

ABSTRACT: Medulloblastoma is a malignant tumor of the cerebellum and the most frequent malignant brain tumor in children. The standard of care consists of maximal resection surgery, followed by craniospinal irradiation and chemotherapy. Such treatment allows long-term survival rates of nearly 70%; however, there are wide disparities among patient outcomes, and in any case, major long-term morbidity is observed with conventional treatment. In the last two decades, the molecular understanding of medulloblastoma has improved drastically, allowing us to revolutionize our understanding of medulloblastoma pathophysiological mechanisms. These advances led to an international consensus in 2010 that defined four prognostic molecular subgroups named after their affected signaling pathways, that is, WNT, SHH, Group 3 and Group 4. The molecular understanding of medulloblastoma is starting to translate through to clinical settings due to the development of targeted therapies. Moreover, recent improvements in radiotherapy modalities and the reconsideration of craniospinal irradiation according to the molecular status hold promise for survival preservation and the reduction of radiation-induced morbidity. This review is an overview of the current knowledge of medulloblastoma through a molecular approach, and therapeutic prospects currently being developed in surgery, radiotherapy and targeted therapies to optimize the treatment of medulloblastoma with a multidisciplinary approach will also be discussed.

SUBMITTER: Thomas A

PROVIDER: S-EPMC6498429 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Medulloblastoma: optimizing care with a multidisciplinary approach.

Thomas Alice A Noël Georges G

Journal of multidisciplinary healthcare 20190430

Medulloblastoma is a malignant tumor of the cerebellum and the most frequent malignant brain tumor in children. The standard of care consists of maximal resection surgery, followed by craniospinal irradiation and chemotherapy. Such treatment allows long-term survival rates of nearly 70%; however, there are wide disparities among patient outcomes, and in any case, major long-term morbidity is observed with conventional treatment. In the last two decades, the molecular understanding of medulloblas ...[more]

PMID: 31118657

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Project description:It is very unusual to see evidence of arterial calcification in infants and children, and when detected, genetic disorders of calcium metabolism should be suspected. Generalized arterial calcification of infancy (GACI) is a hereditary disease, which is characterized by severe arterial calcification of medium sized arteries, mostly involving the media with marked intimal proliferation and ectopic mineralization of the extravascular tissues. It is caused by inactivating variants in genes encoding either ENPP1, in a majority of cases (70-75%), or ABCC6, in a minority (9-10%). Despite similar histologic appearances between ENPP1 and ABCC6 deficiencies, including arterial calcification, organ calcification, and cardiovascular calcification, mortality is higher in subjects carrying the ENPP1 versus ABCC6 variants (40% vs 10%, respectively). Overall mortality in individuals with GACI is high (55%) before the age of 6 months, with 24.4% dying in utero or being stillborn. Rare cases show spontaneous regression with age, while others who survive into adulthood often manifest musculoskeletal complications (osteoarthritis and interosseous membrane ossification), enthesis mineralization, and cervical spine fusion. Despite recent advances in the understanding of the genetic mechanisms underlying this disease, there is still no ideal therapy for the resolution of vascular calcification in GACI. Although bisphosphonates with anti-calcification properties have been commonly used for the treatment of CAGI, their benefit is controversial, with favorable results reported at one year and questionable benefit with delayed initiation of treatment. Enzyme replacement therapy with administration of recombinant form of ENPP1 prevents calcification and mortality, improves hypertension and cardiac function, and prevents intimal proliferation and osteomalacia in mouse models of ENPP1 deficiency. Therefore, newer treatments targeting genes are on the horizon. In this article, we review up to date knowledge of the understanding of GACI, its clinical, pathologic, and etiologic understanding and treatment in support of more comprehensive care of GACI patients.

Dataset Information

Medulloblastoma: optimizing care with a multidisciplinary approach.

Publications

Medulloblastoma: optimizing care with a multidisciplinary approach.

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