Medulloblastoma in a toddler with Gorlin syndrome

Al-Rahawan, Mohamad G.; Trevino, Sorleen; Jacob, Roy; Murray, Jeffrey C.; Al-Rahawan, Mohamad M.

doi:10.1080/08998280.2018.1435111

Cited by 4 publications

(3 citation statements)

References 13 publications

(16 reference statements)

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“…According to the previous report from Netherland, nine out of 171 individuals (5.2%) with GS had SUFU mutations. As described above, patients with SUFU mutations have a significantly increased risk of developing medulloblastoma [ 12 ]; however, no patient diagnosed as GS with SUFU mutations has been reported to develop KCOT.…”

Section: Genetic and Molecular Structural Aspects Of Gorlin Syndromentioning

confidence: 99%

“…Approximately 5% of patients with GS develop medulloblastoma [ 10 ]. Compared to non-symptomatic medulloblastoma, medulloblastoma in GS occurs at an early age of 1–2 years [ 11 , 12 ]. The prevalence of medulloblastoma in GS is significantly higher in patients with the SUFU gene mutation (33%) than in patients with the patched 1 ( PTCH1 ) gene mutation (<2%) [ 10 , 11 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

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Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research

Onodera

Nakamura

2020

IJMS

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Gorlin syndrome is a skeletal disorder caused by a gain of function mutation in Hedgehog (Hh) signaling. The Hh family comprises of many signaling mediators, which, through complex mechanisms, play several important roles in various stages of development. The Hh information pathway is essential for bone tissue development. It is also the major driver gene in the development of basal cell carcinoma and medulloblastoma. In this review, we first present the recent advances in Gorlin syndrome research, in particular, the signaling mediators of the Hh pathway and their functions at the genetic level. Then, we discuss the phenotypes of mutant mice and Hh signaling-related molecules in humans revealed by studies using induced pluripotent stem cells.

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Section: Genetic and Molecular Structural Aspects Of Gorlin Syndromentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research

Onodera

Nakamura

2020

IJMS

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“…It has been reported that in a mouse model, a homozygous variant of SUFU causes protein inactivation and cannot inhibit transcriptional activation, with GLI3 not expressed ( 17 ). This variant was found in only one literature report of a patient with MB ( 18 ). SUFU, a tumor-suppressor gene, encodes a fusion protein suppressor that is part of the hedgehog signaling pathway and one of the key regulators of embryonic development.…”

Section: Discussionmentioning

confidence: 97%

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

Chen

Zhang²,

Zhao³

et al. 2022

Front. Oncol.

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BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation.Clinical presentationMedulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome.ConclusionGorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.

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Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review

Lee,

Evans,

Stephen

et al. 2024

American J of Med Genetics Pt A

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In 2002, heterozygous suppressor of fused variants (SUFU+/−) in the germline were described to have a tumor suppressor role in the development of pediatric medulloblastoma (MB). Other neoplasms associated with pathologic germline SUFU+/− variants have also been described among patients with basal cell nevus syndrome (BCNS; BCNS is also known as Gorlin syndrome, nevoid basal cell carcinoma [BCC] syndrome or Gorlin‐Goltz syndrome; OMIM 109400), an autosomal‐dominant cancer predisposition syndrome. The phenotype of patients with germline SUFU+/− variants is very poorly characterized due to a paucity of large studies with long‐term follow‐up. As such, there is a clinical need to better characterize the spectrum of neoplasms among patients with germline SUFU+/− variants so that clinicians can provide accurate counseling and optimize tumor surveillance strategies. The objective of this study is to perform a scoping review to map the evidence on the rate of medulloblastoma and to describe the spectrum of other neoplasms among patients with germline SUFU+/− variants. A review of all published literature in PubMed (MEDLINE), EMBASE, Cochrane, and Web of Science were searched from the beginning of each respective database until October 9, 2021. Studies of pediatric and adult patients with a confirmed germline SUFU+/− variant who were evaluated for the presence of any neoplasm (benign or malignant) were included. There were 176 patients (N = 30 studies) identified with a confirmed germline SUFU+/− variant who met inclusion criteria. Data were extracted from two cohort studies, two case‐control studies, 18 case series, and eight case reports. The median age at diagnosis of a germline SUFU+/− variant was 4.5 years where 44.4% identified as female and 13.4% of variants were de novo. There were 34 different neoplasms (benign and malignant) documented among patients with confirmed germline SUFU+/− variants, and the most common were medulloblastoma (N = 59 patients), BCC (N = 21 patients), and meningioma (N = 19 patients). The median age at medulloblastoma diagnosis was 1.42 years (range 0.083–3; interquartile range 1.2). When data were available for these three most frequent neoplasms (N = 95 patients), 31 patients (32.6%) had neither MB, BCC nor meningioma; 51 patients (53.7%) had one of medulloblastoma or BCC or meningioma; eight patients (8.4%) had two of medulloblastoma or BCC or meningioma, and five patients (5.3%) had medulloblastoma and BCC and meningioma. This is the first study to synthesize the data on the frequency and spectrum of neoplasms specifically among patients with a confirmed germline SUFU+/− variant. This scoping review is a necessary step forward in optimizing evidence‐based tumor surveillance strategies for medulloblastoma and estimating the risk of other neoplasms that could impact patient outcomes.

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Medulloblastoma in a toddler with Gorlin syndrome

Cited by 4 publications

References 13 publications

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review

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