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@ARTICLE{Schmidt:265711,
      author       = {M. Schmidt and S. Mattern and S. Singer and M. Schulze and
                      S. Biskup and P. Krumm and U. M. Lauer$^*$ and L. Zender$^*$
                      and C. Hinterleitner and M. Hinterleitner},
      title        = {{NOTCH}3 missense mutations as predictor of long-term
                      response to gemcitabine in a patient with epithelioid
                      hemangioendothelioma.},
      journal      = {Journal of cancer research and clinical oncology},
      volume       = {149},
      number       = {9},
      issn         = {0171-5216},
      address      = {Berlin},
      publisher    = {Springer},
      reportid     = {DKFZ-2023-00300},
      pages        = {6753-6757},
      year         = {2023},
      note         = {2023 Aug;149(9):6753-6757},
      abstract     = {Epithelioid hemangioendothelioma (EHE) as a very rare
                      malignant vascular tumor belongs to the heterogenous group
                      of soft-tissue sarcomas. Depending on the clinical course of
                      the disease, interdisciplinary treatment concepts are
                      required, including surgery, radiotherapy and systemic
                      cancer therapy. However, due to its uncommonness, standard
                      treatment options are lacking so far, especially in advanced
                      disease with distant metastases.Here we report on an unusual
                      case of a patient with metastasized EHE showing long-term
                      response to second line treatment with gemcitabine over
                      almost 2 decades. Cancer genome sequencing of the patient's
                      tumor tissue detected a NOTCH3 missense mutation which could
                      provide an explanation for these clinical findings. NOTCH3
                      is known to be a mediator of resistance towards
                      gemcitabine-based cancer treatment, at least in pancreatic
                      cancer and non-small cell lung cancer.The observation that
                      this missense mutation of NOTCH3 is associated with an
                      increased response to treatment with gemcitabine in EHE can
                      be used prospectively to assess NOTCH3 as potential
                      biomarker for predicting therapy response to gemcitabine.},
      subtyp        = {Review Article},
      keywords     = {Epithelioid hemangioendothelioma (Other) / Gemcitabine
                      (Other) / NOTCH3 (Other) / Soft-tissue sarcoma (Other)},
      cin          = {TU01},
      ddc          = {610},
      cid          = {I:(DE-He78)TU01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36749424},
      doi          = {10.1007/s00432-023-04598-1},
      url          = {https://inrepo02.dkfz.de/record/265711},
}