Liste des tumeurs somatiques : pas d’hépatoblastome https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480124/

Genereviews: /NF1/ somatiques sans clinique NF1
- D'Angelo et al 2019: gliome https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857804/
  #+begin_quote
 As expected, we found that multiple clones for each tumor contained only the germline or somatic mutation, indicating that the two mutations reside on different alleles
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[9] eoli2019: ne parle que du biallelique

- Eoli et al 2019: revue cancer neuro : biallelic inactivation is "critical"
- Dunnett-Kane et al 2020: contre-exemple : mutation somatique /NF1/ dans mélanome et adénocarcinome pulmonaire mais pas de prédisposition !
- Fisher et al 2021: gliome (voir single-hit)
Liste des tumeurs somatiques : pas d’hépatoblastome (Philpot2017 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480124/)

Fischer2021 https://doi.org/10.1007/s00401-021-02276: "a somatic abnormality in the second NF1 allele was not found in 3 samples (two with FGFR1 + PIK3CA mutations, one with a MYB:QKI alteration). This suggests that in rare cases, glioma pathogenesis in the context of NF1 may not dependent on loss of the second NF1 allele, as reported for a young adult with NF1 and a malignant glioma [30]"

Gliome : Fischer2021 https://doi.org/10.1007/s00401-021-02276:
majorité ont du double hit mais
#+begin_quote
a somatic abnormality in the second NF1 allele was not found in 3 samples (two with FGFR1 + PIK3CA mutations, one with a MYB:QKI alteration). This suggests that in rare cases, glioma pathogenesis in the context of NF1 may not dependent on loss of the second NF1 allele, as reported for a young adult with NF1 and a malignant glioma [30]
#+end_quote

"This molecular ontology analysis provides a proof-of-concept demonstration that some gliomagenesis-associated events (i.e., KMT2B mutation/amplification) occur before NF1 biallelic inactivation and may be sufficient to drive gliomagenesis in an NF1 heterozygous backgroun"

#+begin_quote
This molecular ontology analysis provides a proof-of-concept demonstration that some gliomagenesis-associated events (i.e., KMT2B mutation/amplification) occur before NF1 biallelic inactivation and may be sufficient to drive gliomagenesis in an NF1 heterozygous backgroun
#+end_quote