Acta Neuropathologica: Familial adenoma pheosarcoma-related craniofacial tube tumors are secondary to APC gene lineage and somatic cell mutations.

Craniofacial tube tumor is a benign epithelial tumor with two variants (meningococ and papilloma), which typically occurs in the saddle/saddle, but has also been reported in unusual locations such as the corner of the bridge's small brain.
It is not common to have a cranial den cranial pharynx tumor without recurrence/expansion or primary tumor in the saddle area, with only 20 reported cases: 14 cases were meningococdenal tumors, 3 were papillomas and 3 were unknown subtypes.
interestingly, six of these patients had epidural tumors located in the corner of the bridge's small brain, and they all had familial adenoma pheosa disease (FAP).
the CTNNB1 gene (MIM x 116806, serial protein β-1) of most meningococral cranial pharyngopharyngeal tumors (ACs) mutates, resulting in the build-up of β-link proteins and activation of the Wnt signaling path.
interestingly, in FAP tumors, this pathway is usually activated in a different way: inactivation through two allephatic genes of the APC gene (MIM x 611731 colorectal adenoma phodesic disease).
Wild APC gene encodes a protein that, as a negative regulator of a typical Wnt signal, promotes phosphateization of β-serial proteins and degrades by binding to β-serial proteins in the plasma to form a degradation complex.
loss of this tumor suppression function leads to the accumulation of β-link proteins in the nucleus, leading to structural activation of the Wnt signaling path.
has now reported nine cases of cranial pharyngosis in FAP patients, all in young people.
6 cases (in the corner of the bridge's small brain) and 3 cases in the saddle area.
, as in six hetero-cases, the activation mechanism of the Wnt path is unclear and there is no evidence of an association between FAP and anteroAC.
in an FAP-related saddle cancer case, a CTNNB1 activation point mutation and a species-shifting APC variant were identified in the sequencing of the whole exon group.
a second APC mutation in infused soy cells was not detected in the tumor, indicating retention of function.
this case, the link between AC and FAP may be accidental.
: For the first time in this case report, we have demonstrated the link between anteroac and the FAP.
patient, a 28-year-old woman, underwent surgery for colon cancer in 2014 and was later diagnosed with FAP syndrome, a pathogenic variant of the APC gene.
while her condition was in remission, she was admitted to hospital with blurred vision and resightedness.
magnetic resonance imaging showed outside lesions of the cranial den after the corner of the brain bridge, with no saddles or extensions next to the saddle.
a second full excision, and histological pathology tests show a typical AC.
in summary, we provide the first evidence that iso-AC may be associated with FAP syndrome, in which case the Wnt signaling path is activated by a genotycular mutation of the APC gene and a mutation in somogene cells, which in the exudable AC is usually caused by a mutation in the CTNNB1 gene.
Passos, J., Quidet, M., Brahimi, A. et al. Familial adenomatous polyposis associated craniopharyngioma secondary to both germline and somatic mutations in the APC gene. Acta Neuropathol (2020). MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Mets Medicine" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized to be reproduced by any media, website or individual, and are authorized to be reproduced with the words "Source: Mets Medicine".
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