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@ARTICLE{Dorman:302789,
author = {K. Dorman$^*$ and C. J. Auernhammer and C. Spitzweg and R.
Schmidmaier and S. Nölting and M. Kroiss and M. Reincke and
C. Schulz and M. Angele and J. Werner and C. Schmid-Tannwald
and J. Rauch and M. Zacherl and T. Knösel$^*$ and J.
Kumbrink$^*$ and A. Jung$^*$ and F. Klauschen$^*$ and A.
Tufman and D. Zhang$^*$ and L. Weiss and S. Böck$^*$ and M.
von Bergwelt-Baildon$^*$ and V. Heinemann$^*$ and C. B.
Westphalen$^*$ and K. Heinrich$^*$},
title = {{P}recision {O}ncology in {R}are {E}ndocrine and
{N}euroendocrine {N}eoplasms: {E}xperiences and {C}hallenges
of the {CCCM}unich{LMU} {M}olecular {T}umor {B}oard.},
journal = {Targeted oncology},
volume = {20},
number = {4},
issn = {1776-2596},
address = {Paris},
publisher = {Springer Verlag France S.A.R.L.},
reportid = {DKFZ-2025-01329},
pages = {715-724},
year = {2025},
note = {2025 Jul;20(4):715-724},
abstract = {Comprehensive genomic profiling (CGP) has become more
generally accessible to patients with rare cancer, but data
on the results and benefits are limited.Our objective was to
gain a real-world understanding of the molecular landscape
and targeted treatment options in neuroendocrine tumors,
neuroendocrine carcinomas, adrenocortical carcinomas,
pheochromocytomas, and carcinoids.In this retrospective
cohort study, we analyzed CGP results and clinical data from
patients with neuroendocrine tumors, neuroendocrine
carcinomas, adrenocortical carcinomas, pheochromocytomas,
and carcinoids who were discussed in the CCCMunichLMU
Molecular Tumor Board (MTB) between May 2017 and April
2023.In total, 104 patients with endocrine and
neuroendocrine neoplasms were discussed in the MTB. CGP was
technically successful in 99 patients. The most commonly
mutated genes were TP53 $(29.3\%),$ RB1 $(11.1\%),$ and KRAS
$(10.1\%).$ The highest overall prevalence of pathogenic
alterations was detected in neuroendocrine carcinomas
$(76.9\%)$ and carcinoids $(83.3\%),$ and the lowest
prevalence of pathogenic alterations was seen in
adrenocortical carcinoma $(37.5\%).$ Of the 99 patients with
successful CGP, 35 received a treatment recommendation from
the MTB based on the CGP results. Of these, ten patients
ultimately received the recommended treatment. Of the ten
treated patients, four experienced a longer progression-free
survival under the targeted treatment than under their
previous treatment.One-third of patients with rare endocrine
and neuroendocrine neoplasms who underwent CGP had a
druggable alteration and received a treatment recommendation
from the MTB. However, only $28.6\%$ of these patients were
treated accordingly. Our experience highlights the unmet
medical need for targeted treatment options in patients with
rare cancers.},
cin = {MU01},
ddc = {610},
cid = {I:(DE-He78)MU01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40587033},
doi = {10.1007/s11523-025-01152-6},
url = {https://inrepo02.dkfz.de/record/302789},
}