Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene

Sporadic adamantinomatous craniopharyngioma with double-hit somatic APC mutations

“…Further evidence came from Passos et al who described a patient with FAP from a known pathogenic APC germline variant who underwent resection of an ectopic craniopharyngioma in the cerebellopontine angle. 8 In addition to the germline mutation, the tumor carried a second somatic variant affecting the other allele, leading to a premature stop codon, and subsequently biallelic loss of APC.…”

Epigenetics and genetics of hepatoblastoma: Linkage and treatment

“…Children with Beckwith-Wiedemann syndrome have an increased potential for Hepatoblastoma progression via mutations at a locus on human chromosome 11. Zivot et al (2020) demonstrated the close association of Hepatoblastoma with the Beckwith-Wiedemann syndrome based on magnetic resonance imaging, percutaneous puncture biopsy, and methylation testing. These authors suggested that all Hepatoblastoma patients should be considered for Beckwith-Wiedemann syndrome testing, even if they do not exhibit other diagnosable phenotypes.…”

“…It is associated with APC gene mutation, an allele on the long arm of chromosome 5, 5q21-q22, and is at high risk of cancer ( Vasen et al, 2008 ). Various other malignancies can occur in FAP, including Craniopharyngioma ( Passos et al, 2020 ), Hepatoblastoma ( Giardiello et al, 1996 ), Acute leukemia ( Greenberg et al, 1981 ), and Thyroid and Pancreatic carcinoma ( Giardiello et al, 1993 ). Achatz et al clarified that multiple syndromes, including FAP, are associated with an increased incidence of gastrointestinal tumors and other cancer types by reviewing the literature on polyposis syndromes diagnosed in childhood and based on a workshop on childhood cancer susceptibility in October 2016; and even further recommended promoting cancer screening to them ( Achatz et al, 2017 ).…”