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Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review.

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  • المؤلفون: Zhang W;Zhang W; Fang L; Fang L; Wang J; Wang J; Ma X; Ma X; Hu X; Hu X; Liu W; Liu W
  • المصدر:
    Journal of cardiothoracic surgery [J Cardiothorac Surg] 2024 Apr 01; Vol. 19 (1), pp. 166. Date of Electronic Publication: 2024 Apr 01.
  • نوع النشر :
    Review; Case Reports; Journal Article
  • اللغة:
    English
  • معلومة اضافية
    • المصدر:
      Publisher: BioMed Central Country of Publication: England NLM ID: 101265113 Publication Model: Electronic Cited Medium: Internet ISSN: 1749-8090 (Electronic) Linking ISSN: 17498090 NLM ISO Abbreviation: J Cardiothorac Surg Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: [London] : BioMed Central, 2006-
    • الموضوع:
      Histiocytosis, Sinus*/diagnosis ; Histiocytosis, Sinus*/genetics ; Histiocytosis, Sinus*/surgery; Adult ; Humans ; Male ; Mediastinum/pathology ; Mutation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/therapeutic use ; Thorax/pathology
    • نبذة مختصرة :
      Background: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis.
      Case Presentation: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation.
      Conclusions: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.
      (© 2024. The Author(s).)
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    • Grant Information:
      #82003284 National Natural Science Foundation of China; #JDYY11202015 Scientific Research Foundation of The First Hospital of Jilin University
    • Contributed Indexing:
      Keywords: KRAS mutation; Immunohistochemistry; Mediastinal diseases; Rosai–Dorfman disease; Sinus histiocytosis with massive lymphadenopathy
    • الرقم المعرف:
      0 (KRAS protein, human)
      EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
    • الموضوع:
      Date Created: 20240402 Date Completed: 20240403 Latest Revision: 20240405
    • الموضوع:
      20250114
    • الرقم المعرف:
      PMC10985954
    • الرقم المعرف:
      10.1186/s13019-024-02668-0
    • الرقم المعرف:
      38561747