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1000 Titel
  • Undifferentiated large cell/rhabdoid carcinoma presenting in the intestines of patients with concurrent or recent non-small cell lung cancer (NSCLC): clinicopathologic and molecular analysis of 14 cases indicates an unusual pattern of dedifferentiated metastases
1000 Autor/in
  1. Agaimy, Abbas |
  2. Daum, Ondrej |
  3. Michal, Michal |
  4. Schmidt, Mona W. |
  5. Stoehr, Robert |
  6. Hartmann, Arndt |
  7. Lauwers, Gregory Y. |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-01-27
1000 Erschienen in
1000 Quellenangabe
  • 479(1):157-167
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00428-021-03032-6 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298222/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Undifferentiated carcinoma metastatic to the bowel is uncommon in surgical pathology practice and might be confused with primary gastrointestinal carcinoma, melanoma, lymphoma, and others. We present 14 cases of uni- (n = 9) or multifocal (n = 5) undifferentiated large cell/rhabdoid carcinoma presenting in the bowel of patients with concurrent (n = 9) or recent (diagnosed 1 to 25 months earlier; median, 4) non-small cell lung cancer (NSCLC). Patients were 6 females and 8 males, aged 52 to 85 years. Primary NSCLC was verified histologically in 10 cases and by imaging in 4. The undifferentiated histology was present in the lung biopsy in 4/10 patients (as sole pattern in 3 and combined with adenocarcinoma in 1) and was limited to the intestinal metastases in the remainder. PDL1 was strongly expressed in 7/9 cases (CPS: 41 to 100). Loss of at least one SWI/SNF subunit was detected in 7/13 cases (54%). SMARCA2 loss (n = 6) was most frequent and was combined with SMARCA4 loss in one case. PBRM1 loss was observed in one tumor. Successful molecular testing of 11 cases revealed BRAF mutations in 4 (3 were non-V600E variants), KRAS mutations in 3, and wildtype in 4. None had EGFR mutations. Analysis of 4 paired samples revealed concordant KRAS (2) and BRAF (1) mutations or wildtype (1). Our study indicates that undifferentiated carcinoma within the intestines of patients with concurrent/recent NSCLC represents dedifferentiated metastasis from the NSCLC. Recognition of this unusual presentation is cardinal to avoid misdiagnosis with inappropriate therapeutic and prognostic implications.
1000 Sacherschließung
lokal Aged, 80 and over [MeSH]
lokal Large cell carcinoma
lokal Carcinoma, Non-Small-Cell Lung/genetics [MeSH]
lokal Anaplastic carcinoma
lokal Aged [MeSH]
lokal Lung Neoplasms/genetics [MeSH]
lokal Metastasis
lokal Lung Neoplasms/chemistry [MeSH]
lokal Molecular Diagnostic Techniques [MeSH]
lokal Intestinal Neoplasms/secondary [MeSH]
lokal Undifferentiated carcinoma
lokal Carcinoma, Non-Small-Cell Lung/secondary [MeSH]
lokal Diagnosis, Differential [MeSH]
lokal Carcinoma, Large Cell/pathology [MeSH]
lokal Original Article
lokal NSCLC
lokal Male [MeSH]
lokal SMARCA4
lokal Rhabdoid Tumor/pathology [MeSH]
lokal Carcinoma, Large Cell/genetics [MeSH]
lokal Biomarkers, Tumor/analysis [MeSH]
lokal SWI/SNF
lokal Rhabdoid Tumor/chemistry [MeSH]
lokal Cell Dedifferentiation [MeSH]
lokal Female [MeSH]
lokal Mutation [MeSH]
lokal Biopsy [MeSH]
lokal Humans [MeSH]
lokal Carcinoma, Large Cell/chemistry [MeSH]
lokal Predictive Value of Tests [MeSH]
lokal Rhabdoid Tumor/genetics [MeSH]
lokal Middle Aged [MeSH]
lokal Carcinoma, Non-Small-Cell Lung/chemistry [MeSH]
lokal Biomarkers, Tumor/genetics [MeSH]
lokal Gastrointestinal
lokal Prognosis [MeSH]
lokal Lung Neoplasms/pathology [MeSH]
lokal Intestinal Neoplasms/genetics [MeSH]
lokal Intestine
lokal Rhabdoid carcinoma
lokal Intestinal Neoplasms/chemistry [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0002-0445-8161|https://frl.publisso.de/adhoc/uri/RGF1bSwgT25kcmVq|https://frl.publisso.de/adhoc/uri/TWljaGFsLCBNaWNoYWw=|https://frl.publisso.de/adhoc/uri/U2NobWlkdCwgTW9uYSBXLg==|https://frl.publisso.de/adhoc/uri/U3RvZWhyLCBSb2JlcnQ=|https://frl.publisso.de/adhoc/uri/SGFydG1hbm4sIEFybmR0|https://frl.publisso.de/adhoc/uri/TGF1d2VycywgR3JlZ29yeSBZLg==
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