Medulloblastoma as a First Presentation of Fanconi Anemia

Tischkowitz, Marc; Chisholm, Julia; Gaze, Mark; Michalski, Antony; Rosser, Elisabeth

doi:10.1097/00043426-200401000-00016

Cited by 18 publications

(13 citation statements)

References 17 publications

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“…Skeleton: Radial ray abnormalities (including thumb duplication, deformity, or aplasia), congenital hip dislocation, scoliosis, and vertebral anomalies are common …”

Section: Glossarymentioning

confidence: 99%

“…Skeleton: Radial ray abnormalities (including thumb duplication, deformity, or aplasia), congenital hip dislocation, scoliosis, and vertebral anomalies are common. 87 CNS: Rarely brain tumors, except in patients with BRCA2/FANCD1 mutations. 88 Ventriculomegaly as well as callosal and cerebellar hypoplasia reported in a few patients with FANCB mutations.…”

Section: Rubinstein-taybi Syndrome (Omim: 180849)mentioning

confidence: 99%

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Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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“…Skeleton: Radial ray abnormalities (including thumb duplication, deformity, or aplasia), congenital hip dislocation, scoliosis, and vertebral anomalies are common …”

Section: Glossarymentioning

confidence: 99%

Section: Rubinstein-taybi Syndrome (Omim: 180849)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…In a mouse model with a deficit of exon 10 of Brca1 the 40% of fetuses detected with exencephaly with disorganized neuroepithelium even if the spina bifida was normal in mices with BRCA1 mutations [6,8]. According to Terri et al two microsatellite regions are associated with the low number of repetitions of genes D17S1323 and D17S1322 at CEPH cells and the BRCA1 gene is associated with the occurrence of spina bifida suggesting that BRCA1 gene is essential for neuronal development [9].…”

Section: Literature Review the Involvement Of The Brca2 Gene In Cns Tmentioning

confidence: 99%

The Role of BRCA1 and BRCA2 Genes in the Appearance of Pediatric and Adolescent Disorders

Drikos¹,

Sachinidis²,

Vassi³

et al. 2017

J Neoplasm

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The genes BRCA1 and BRCA2 appear crucial role in development of hereditary breast and ovarian cancer. Hundreds of different types of mutations have been identified in these genes. The high risk mutations inactivate a very important and foolproof DNA repair process, thus increasing considerably the risk of diseases development such as breast and ovarian cancer.These genes seem to have a significant influence and participation in appearance of pediatric diseases other than breast and ovarian cancer being important molecules in DNA repair process and cell cycle progression. Therefore further exploration and evaluation of these genes in the appearance of pediatric diseases may enhance the importance of prenatal audit.

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“…13q12.3 Medulloblasotma, leukemia, breast cancer, Wilms' tumor de Chadarevian et al (1985), Ruud and Wesenberg (2001), Offit et al (2003), Hirsch et al (2004), Tischkowitz et al (2004) Nijmegen breakage syndrome NBS1 8q21 Medulloblasotma, lymphoma, leukemia, rhabdomyosarcoma Bakhshi et al (2003), Distel et al (2003) of Homer-Wright rosettes or occasional groups of ganglion cells. To a small degree, differentiation along glial lineages as well as nuclear pleomorphism can be seen.…”

Section: Brca2mentioning

confidence: 99%

“…There are several DNA repair deficient mice that generate medulloblastomas (Lee and McKinnon 2002;Tong et al 2003;Holcomb et al 2006;Yan et al 2006;Frappart et al 2007). However, these genes have yet to be identified as pathogenetically mutated in primary human medulloblastomas other than very rare familial case reports such as Nijmegen Breakage Syndrome and Fanconi Anemia Type D (Ruud and Wesenberg 2001;Bakhshi et al 2003;Distel et al 2003;Offit et al 2003;Hirsch et al 2004;Tischkowitz et al 2004). Several medulloblastoma cell lines have been instrumental in early stages of drug discovery and preclinical testing.…”

Section: Future Directions and Challengesmentioning

confidence: 99%