Secondary Glioblastoma Multiform in a Patient with CHARGE Syndrome and Prior Radiation Therapy for Medulloblastoma

Gajjar, S.; Mazloom, Ali; Chintagumpala, Murali; Mahajan, Anita; Paulino, Arnold C.

doi:10.3109/08880018.2014.883002

Cited by 3 publications

(3 citation statements)

References 6 publications

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“…Germline mutations in CHD7 cause CHARGE syndrome, a multiple anomaly condition with defects in the nervous system (Martin, 2015). Medulloblastoma has been reported in CHARGE syndrome patients (Gajjar et al, 2014). Similarly, germline mutations in several chromatin regulators cause multi-system developmental diseases.…”

Section: Epigenetic Alterations Associated With Human Medulloblastomamentioning

confidence: 99%

Epigenetic regulation in medulloblastoma

2018

Molecular and Cellular Neuroscience

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Medulloblastoma is the most common malignant childhood brain tumor. The heterogeneous tumors are classified into four subgroups based on transcription profiles. Recent developments in genome-wide sequencing techniques have rapidly advanced the understanding of these tumors. The high percentages of somatic alterations of genes encoding chromatin regulators in all subgroups suggest that epigenetic deregulation is a major driver of medulloblastoma. In this report, we review the current understanding of epigenetic regulation in medulloblastoma with a focus on the functional studies of chromatin regulators in the initiation and progression of specific subgroups of medulloblastoma. We also discuss the potential usage of epigenetic inhibitors for medulloblastoma treatment.

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Section: Epigenetic Alterations Associated With Human Medulloblastomamentioning

confidence: 99%

Epigenetic regulation in medulloblastoma

2018

Molecular and Cellular Neuroscience

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“…The Ba-Es length was 19 mm (11-year-old baseline: 26.9 ± 2.6 mm) and the Ba-Xs length was 17 mm (11-year-old baseline: 25.9 ± 2.3 mm). Ba, basion; Ba-Xs, exosphenobasion; Ba-Es, endosphenobasion only a few cases of CHARGE syndrome associated with neoplasms have been reported (Table 1) (Anderson et al, 2020;Bahillo et al, 2003;Costa et al, 2011;Fuentes-Páez et al, 2007;Gajjar et al, 2014;Prasad et al, 2009;Remy et al, 2012). Only three of the seven reported patients, including the present case, had hematologic malignancy.…”

Section: Discussionmentioning

confidence: 69%

“…Hence, it is possible that alteration of the gene expression and erroneous DNA repair by dysfunctional CHD7 plays a role in the variable phenotypes of CHARGE syndrome; nevertheless, it has not been recognized as a cancer predisposition syndrome. To our knowledge, only a few cases of CHARGE syndrome associated with neoplasms have been reported (Table 1) (Anderson et al, 2020; Bahillo et al, 2003; Costa et al, 2011; Fuentes‐Páez et al, 2007; Gajjar et al, 2014; Prasad et al, 2009; Remy et al, 2012). Only three of the seven reported patients, including the present case, had hematologic malignancy.…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia associated with CHARGE syndrome

Shuto

Hirano

Oguri

et al. 2022

American J of Med Genetics Pt A

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CHARGE syndrome is a malformation disorder with diverse phenotypes that shows autosomal dominance with heterozygous variants in the chromodomain helicase DNA‐binding 7 (CHD7) gene. Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CHARGE syndrome who developed acute myelogenous leukemia at 12 years old. She had mild intellectual disability, and hearing loss with inner ear malformation, myopia, astigmatism, laryngotracheal malacia, hypogonadism, and clival hypoplasia, with a history of patent ductus arteriosus. The patient was genetically diagnosed with CHARGE syndrome based on the detection of a novel heterozygous frameshift pathogenic variant in the CHD7 gene. We review the reported pediatric cases of CHARGE syndrome with malignancy and suggest a possible molecular mechanism of carcinogenesis involving pathogenic variants of the CHD7 gene.

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Radiation-induced gliomas: a comprehensive review and meta-analysis

2016

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By conducting a systemic search of the PubMed database, we performed a comprehensive literature review to characterize secondary gliomas following radiotherapy treatment and to determine the most appropriate treatment strategy. Our analysis included 296 cases of radiation-induced gliomas. The primary lesion was characterized as a hematological malignancy in 104 cases (35.1 %), pituitary adenoma in 35 (11.8 %), craniopharyngioma in 19 (6.4 %), medulloblastoma in 38 (12.8 %), germ cell tumor in 13 (4.3 %), low-grade glioma in 28 (9.4 %), cancer/sarcoma in 12 (4.0 %), scalp region disease in 15 (5.0 %), meningioma/schwannoma in 13 (4.3 %), metastatic brain tumor in 5 (1.6 %), and other types (e.g., arteriovenous malformations and angiomas) in 14 (4.7 %). The average age of onset for primary lesions was 16.0 ± 15.8 years, and the average radiation dose delivered to the primary lesion was 37.6 ± 20.0 Gy. Secondary gliomas could be divided into grade I (1), grade II (32), grade III (88), and grade IV (173) tumors. The median overall survival for all glioma cases was 11 months (95 % confidence interval [CI], 9-12), with a 2-year survival rate of 20.2 %. On multivariate analysis, combined modality treatment and the latency period from the radiotherapy treatment to the glioma diagnosis were variables associated with the overall survival of patients with grade III/IV secondary gliomas. For patients treated with cranial radiotherapy, the risk of secondary glioma incidence warrants a longer follow-up period beyond the standard time frame typically designated for determining the risk of primary tumor relapse. Moreover, combination therapy is a potential treatment option for radiation-induced gliomas.

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Secondary Glioblastoma Multiform in a Patient with CHARGE Syndrome and Prior Radiation Therapy for Medulloblastoma

Cited by 3 publications

References 6 publications

Epigenetic regulation in medulloblastoma

Epigenetic regulation in medulloblastoma

Acute myeloid leukemia associated with CHARGE syndrome

Radiation-induced gliomas: a comprehensive review and meta-analysis

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