Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms

Weir, Peter; Kumaria, Ashwin; Mohmed, Alhassan; Javed, Shazia; Paine, Simon; Byrne, Paul

doi:10.1007/s00701-021-05105-6

Cited by 1 publication

(1 citation statement)

References 19 publications

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“…It is of paramount significance to emphasize that the presence of isolated case reports detailing the occurrence of tumors within these syndromes does not in and of itself substantiate a definitive pattern of cancer risk [34–36]. This realization underscores the imperative of conducting in-depth investigations encompassing extensive cohort studies and meticulous meta-analyses to precisely quantify these risks.…”

Section: Comorbiditiesmentioning

confidence: 99%

Overgrowth syndromes, diagnosis and management

Klein,

Nisbet,

Kalish

2023

Current Opinion in Pediatrics

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Purpose of review This review will focus on the current knowledge of the diagnosis and management of overgrowth syndromes with specific focus on mosaic conditions and treatment strategies. Recent findings With the implementation of massively parallel sequencing, the genetic etiology many classically described overgrowth syndromes has been identified. More recently, the role of mosaic genetic changes has been well described in numerous syndromes. Furthermore, the role of imprinting and methylation, especially of the 11p15 region, has been shown to be instrumental for growth. Perhaps most importantly, many overgrowth syndromes carry an increased risk of neoplasm formation especially in the first 10 years of life and possibly beyond. The systematic approach to the child with overgrowth will aide in timely diagnosis and efficient alignment them with appropriate screening strategies. In some cases, precision medical interventions are available to target the perturbed growth signaling pathways. Summary The systematic approach to the child with overgrowth aids in the standardization of the diagnostic pathway for these young patients, thereby expediting the diagnostic timeline, enabling rigorous monitoring, and delivering tailored therapeutic interventions.

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Section: Comorbiditiesmentioning

confidence: 99%