Case Report: Atypical pattern of pathologic response in cutaneous transdifferentiated melanoma with rhabdomyoblastic differentiation following neoadjuvant therapy - Scorecard - MDSpire

Case Report: Atypical pattern of pathologic response in cutaneous transdifferentiated melanoma with rhabdomyoblastic differentiation following neoadjuvant therapy

  • By

  • Isabela Paulino Serur

  • Beatriz Mendes Awni Cidale

  • Ana Zélia Leal Pereira

  • Gustavo Benfatti Olivato

  • Giulia Kodja Zanetta

  • Melissa Lissae Fugimori

  • Claudia Regina Gomes Cardim Mendes de Oliveira

  • Maria Fernanda Hunziker

  • Frederico José Ribeiro Teixeira Júnior

  • Rodrigo Ramella Munhoz

  • May 4, 2026

  • 0 min

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Clinical Scorecard: Case Study: Unusual Pathologic Response in Cutaneous Melanoma with Rhabdomyoblastic Differentiation Following Neoadjuvant Treatment

At a Glance

CategoryDetail
ConditionTransdifferentiated melanoma with rhabdomyosarcomatous differentiation
Key MechanismsPhenotypic plasticity, immune escape, high tumor mutational burden
Target PopulationPatients with resectable stage III and IV melanoma
Care SettingOncology, specifically in the context of neoadjuvant immunotherapy

Key Highlights

  • Rare variant of melanoma characterized by loss of melanocytic markers and aggressive behavior
  • Patient experienced immune-related hepatitis and aseptic meningitis during treatment
  • Post-treatment pathology showed complete regression of melanocytic component but viable rhabdomyoblastic component
  • Molecular profiling revealed NRAS Q61R and TERT promoter mutations, with implications for treatment resistance
  • Neoadjuvant immunotherapy is increasingly used in clinical practice for melanoma management

Guideline-Based Recommendations

Diagnosis

  • Integrated histopathological and molecular assessment for accurate diagnosis

Management

  • Neoadjuvant immunotherapy with ipilimumab and nivolumab for resectable melanoma, supported by recent clinical trials

Monitoring & Follow-up

  • Close oncologic surveillance post-treatment to assess for viable tumor components

Risks

  • Potential for immune-related adverse events such as hepatitis and meningitis

Patient & Prescribing Data

38-year-old male with a history of cutaneous melanoma

Neoadjuvant treatment led to mixed metabolic response, necessitating immunosuppressive therapy; specify imaging findings.

Clinical Best Practices

  • Characterize pathological responses in melanoma variants to tailor treatment strategies
  • Utilize biomarkers like IFNγ, PD-L1 expression, and tumor mutational burden for predictive insights in clinical practice

References

Original Source(s)

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