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@ARTICLE{Trefzer:278633,
      author       = {L. Trefzer and M. E. Hess and L. Scholten and K.
                      Technau-Hafsi and F. Meiss and M. Börries$^*$ and C. Has
                      and D. Rafei-Shamsabadi},
      title        = {{V}ariable {O}utcome of {I}mmunotherapy in {A}dvanced
                      {M}ultiple {C}utaneous {S}quamous {C}ell {C}arcinomas in
                      {T}wo {P}atients with {R}ecessive {D}ystrophic
                      {E}pidermolysis {B}ullosa.},
      journal      = {Acta dermato-venereologica},
      volume       = {103},
      issn         = {0001-5555},
      address      = {Uppsala},
      publisher    = {Acta Dermato-Venereologica},
      reportid     = {DKFZ-2023-01677},
      pages        = {adv4870},
      year         = {2023},
      abstract     = {Cutaneous squamous cell carcinoma (cSCC) is a major
                      complication of recessive dystrophic epidermolysis bullosa
                      (RDEB) that has high morbidity and mortality rates and unmet
                      therapeutic needs. The aim of this study was to evaluate the
                      molecular pattern of cSCC and the clinical course of
                      immunotherapy in 2 RDEB patients with multiple advanced
                      cSCC. Clinical course and disease staging were evaluated
                      retrospectively. The tumour tissues were subjected to
                      immunohistochemical staining. DNA from the blood and cSCC
                      samples was subjected to massive parallel sequencing, and
                      somatic mutations were determined. Patient 1 survived for
                      over 2 years as disease control was achieved with cemiplimab
                      and intralesional interleukin-2. The target advanced cSCC
                      demonstrated a high rate of somatic mutations and strong
                      expression of the immune markers, indoleamine
                      2,3-dioxygenase, programmed cell death protein ligand 1, and
                      lymphocyte-activation gene 3. The patient ultimately
                      succumbed to complications of oesophageal carcinoma. Patient
                      2 had an undifferentiated cSCC on the foot, which displayed
                      a low mutational burden and did not express immune markers.
                      The tumour progressed quickly even with cemiplimab therapy.
                      These 2 cases underscore the challenges of cSCC treatment
                      for RDEB. Multiple tumours with different molecular and
                      immune profiles occur concomitantly or sequentially, and
                      surgical excision is not always possible because of the
                      anatomical and tissue constraints imposed by the disease
                      itself. In conclusion, programmed cell death protein 1
                      inhibitors are approved and effective in treating metastatic
                      and locally advanced cSCC. Our experience and the literature
                      suggest that cemiplimab is an option in patients with RDEB
                      if surgery is not. Somatic mutations and the immune
                      microenvironment should be characterized to predict
                      therapeutic response, particularly in aggressive
                      undifferentiated tumours.},
      keywords     = {Humans / Skin Neoplasms: drug therapy / Skin Neoplasms:
                      genetics / Carcinoma, Squamous Cell: drug therapy /
                      Carcinoma, Squamous Cell: genetics / Epidermolysis Bullosa
                      Dystrophica: complications / Epidermolysis Bullosa
                      Dystrophica: drug therapy / Epidermolysis Bullosa
                      Dystrophica: genetics / Retrospective Studies /
                      Immunotherapy: adverse effects / Disease Progression / Tumor
                      Microenvironment},
      cin          = {FR01},
      ddc          = {610},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37338146},
      pmc          = {pmc:PMC10292046},
      doi          = {10.2340/actadv.v103.4870},
      url          = {https://inrepo02.dkfz.de/record/278633},
}