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@ARTICLE{Allguer:305532,
author = {M. Allgäuer and K. Kluck and P. Christopoulos and M. Ball
and A.-L. Volckmar and T. Radonic and L. Bubendorf and P.
Hofman and C. P. Heußel and H. Winter and F. Herth and M.
Thomas and B. Ylstra and S. Peters and P. Schirmacher and D.
Kazdal$^*$ and J. Budczies$^*$ and A. Stenzinger$^*$ and M.
Kirchner},
title = {{A}dvancing {L}ung {C}ancer {S}taging: {I}ntegrating
{IASLC} {R}ecommendations and {B}ioinformatics to
{D}elineate {T}umor {O}rigins.},
journal = {Journal of thoracic oncology},
volume = {nn},
issn = {1556-0864},
address = {Amsterdam},
publisher = {Elsevier},
reportid = {DKFZ-2025-02206},
pages = {nn},
year = {2025},
note = {epub},
abstract = {Accurate distinction between separate primary lung
carcinomas (SPLCs) and intrapulmonary metastases (IPMs) is
essential for staging and treatment of multifocal non-small
cell lung carcinoma (NSCLC). Next-generation sequencing
(NGS) enables assessment of clonal relatedness. The proposed
IASLC algorithm integrates histological and molecular data,
though its clinical utility is yet to be validated.We
focused on the molecular component of the algorithm and
assessed 240 tumor pairs from 120 patients with
formalin-fixed paraffin-embedded (FFPE) tumor samples that
underwent small-scale gene panel NGS testing (31-54 genes)
within routine clinical care. Most tumors were
adenocarcinomas (n=222), 18 tumors other NSCLC subtypes.
Inconclusive pairs by molecular classification were
subjected to large-scale panel analyses (531 genes).
Additionally, we developed a bioinformatic method to
complement and refine the IASLC method.In total 22 tumor
pairs $(18\%)$ remained inconclusive and 16 $(13\%)$ were
classified ambiguous (probable SPLCs) using the molecular
IASLC method. Re-sequencing classified 9 of 22 inconclusive
pairs as IPMs. Using a newly developed bioinformatic method
for clonality classification incorporating likelihood ratios
of mutational prevalence and small-scale sequencing, only 3
pairs remained inconclusive $(2\%).$ Tumors classified as
SPLCs had a significantly longer overall survival than
IPMs.Small-scale panel sequencing of biopsy material allows
unambiguous clonality determination in 3 of 4 cases.
Large-scale sequencing resolves about half of inconclusive
cases. Our bioinformatic method reduces inconclusive pairs
to $2\%$ even with small-scale NGS. It is made publicly
available as a Shiny App. Clonality is reflected in survival
data and therefore pivotal in daily clinical practice.},
keywords = {(max. n=5) Multiple pulmonary tumors (Other) / IASLC
recommendations (2024) (Other) / Next Generation Sequencing
(NGS) (Other) / clonality classification (Other)},
cin = {HD01},
ddc = {610},
cid = {I:(DE-He78)HD01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41135642},
doi = {10.1016/j.jtho.2025.10.010},
url = {https://inrepo02.dkfz.de/record/305532},
}