Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution

Wang, Ying; Wu, Junqi; Li, Wei; Li, Jiankang; Liu, Raynald; Bao, Yijun; Li, Chunde; Jiang, Tao

doi:10.1007/s00381-020-04885-z

Cited by 10 publications

(11 citation statements)

References 29 publications

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“…There are currently no direct estimates of the incidence of SUFU and PTCH1 PV carriers in the general population and no unbiased estimates of the risk of childhood medulloblastoma for each condition. The great majority of testing of SUFU is for childhood medulloblastoma and only limited testing has been carried out to identify healthy carriers in those families [17][18][19]. In the largest study thus far, Waszak et al in 2018 [17], found a germline SUFU or PTCH1 PV in 20/1022 (2%) patients with medulloblastoma (9 PTCH1, 11 SUFU).…”

Section: Medulloblastomasmentioning

confidence: 99%

“…However, just over 200 of the Waszak series were over 18 years of age (Table 3 ), thus 11/800 (1.4%) of childhood medulloblastoma had a SUFU PV and 9/800 (1.1%) had a PTCH1 PV. Brugieres et al in 2012 found a much higher incidence of SUFU PVs, 8/131 (6.1%), [ 18 ] whereas Wang et al found only one PV each for SUFU and PTCH1 in their series of 129 medulloblastomas (0.8%) [ 19 ]. These differences may be related to the distribution of age-at-diagnosis and histological subtypes in the different series.…”

Section: Genetic Associationsmentioning

confidence: 99%

“…The definition varied according to authors: all BCC for Kimosis and Endo, > 10 BCC for Evans, multiple or before age 20 for Shanley Studies estimating the proportion of childhood medulloblastoma caused by SUFU or PTCH1 germline variants PTCH1 PV. Brugieres et al in 2012 found a much higher incidence of SUFU PVs, 8/131 (6.1%),[18] whereas Wang et al found only one PV each for SUFU and PTCH1 in their series of 129 medulloblastomas (0.8%)[19]. These differences may be related to the distribution of ageat-diagnosis and histological subtypes in the different series.…”

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confidence: 91%

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Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)

et al. 2021

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Gorlin syndrome (MIM 109,400), a cancer predisposition syndrome related to a constitutional pathogenic variation (PV) of a gene in the Sonic Hedgehog pathway (PTCH1 or SUFU), is associated with a broad spectrum of benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts and medulloblastomas are the main tumor types encountered, but meningiomas, ovarian or cardiac fibromas and sarcomas have also been described. The clinical features and tumor risks are different depending on the causative gene. Due to the rarity of this condition, there is little data on phenotype-genotype correlations. This report summarizes genotype-based recommendations for screening patients with PTCH1 and SUFU-related Gorlin syndrome, discussed during a workshop of the Host Genome Working Group of the European branch of the International Society of Pediatric Oncology (SIOPE HGWG) held in January 2020. In order to allow early detection of BCC, dermatologic examination should start at age 10 in PTCH1, and at age 20 in SUFU PV carriers. Odontogenic keratocyst screening, based on odontologic examination, should begin at age 2 with annual orthopantogram beginning around age 8 for PTCH1 PV carriers only. For medulloblastomas, repeated brain MRI from birth to 5 years should be proposed for SUFU PV carriers only. Brain MRI for meningiomas and pelvic ultrasound for ovarian fibromas should be offered to both PTCH1 and SUFU PV carriers. Follow-up of patients treated with radiotherapy should be prolonged and thorough because of the risk of secondary malignancies. Prospective evaluation of evidence of the effectiveness of these surveillance recommendations is required.

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Section: Medulloblastomasmentioning

confidence: 99%

Section: Genetic Associationsmentioning

confidence: 99%

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confidence: 91%

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Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)

et al. 2021

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“…On the basis of literature reports, 5 (3.9%) of 129 patients with medulloblastoma have germline mutations, including in the TP53, PTCH1, and SUFU genes, and all of these patients had SHH medulloblastoma. 11 Two patients diagnosed with GGS had germline PTCH1 and SUFU mutations. Another literature reported that a SUFU mutation was found in 8 of 43 children with medulloblastoma below 3 years of age at diagnosis, whereas no mutation was identified in any of the 88 patients age above 3 years at diagnosis.…”

Section: Discussionmentioning

confidence: 99%

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer

Katayama

Inoue

Kayatani

et al. 2022

Journal of Pediatric Hematology/Oncology

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We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a lowfrequency mosaicism, basal cell carcinoma, and normal skin by whole exome sequencing of cancer susceptibility genes. Setting a therapeutic strategy with regard to second cancer development is important for pediatric cancer patients who have a background of cancer predisposition. Advances in comprehensive multigenetic analysis are anticipated to aid in developing such a strategy.

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“…These stresses activating signals function via post-translational modifications on p53 protein (e.g. phosphorylation, acetylation) leading to p53 activation (15)(16)(17). P53 protein eventually enters the nucleus, where it induces the expression of a plethora of target genes (18).…”

Section: Discussionmentioning

confidence: 99%

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome

Liu

et al. 2021

Front. Oncol.

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BackgroundChoroid plexus carcinomas (CPCs) are rare pediatric tumors commonly associated with Li-Fraumeni syndrome (LFS), which involves a germline mutation of the tumor suppressor gene TP53.Materials and MethodsWe retrospectively analyzed the corresponding information of 12 cases, including the effects of surgery and radiotherapy and TP53 germline mutations, to analyse the management strategies. Kaplan-Meier curves and the log-rank test were used to evaluate the progression-free survival (PFS).ResultsTwelve CPC patients were included, of which TP53 germline mutations were found in eight cases. All patients underwent surgical resection, and six patients received radiotherapy following with operation after initial diagnosis, one patient received radiotherapy following relapse. It was significantly different (P=0.012 and 0.028) that patients with TP53 germline mutation receiving the gross total resection (GTR) without radiotherapy showed survival advantages. Without TP53 germline mutations also showed survival advantages, but there is no statistical significance (P=0.063)ConclusionsThese findings provide evidence for the therapeutic strategy that radiotherapy should not be considered for patients with TP53 germline mutations.

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Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution

Cited by 10 publications

References 29 publications

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG)

A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome

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