Unmasking the “targetless” illusion: branched clonal evolution of TERT and KIT in acral melanoma revealed by sequential multi-site biopsies- a case report - Scorecard - MDSpire

Unmasking the “targetless” illusion: branched clonal evolution of TERT and KIT in acral melanoma revealed by sequential multi-site biopsies- a case report

  • By

  • Yuqiao Fu

  • Peng Li

  • Ke Li

  • Lei Jiang

  • Yingzi Liang

  • Lipei Shao

  • Ya Zhang

  • Chunlei Ge

  • Zhaoqi Zhang

  • Ying Wang

  • Ruilei Li

  • May 20, 2026

  • 0 min

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Clinical Scorecard: Revealing the 'targetless' phenomenon: branched clonal evolution of TERT and KIT in acral melanoma illustrated through sequential multi-site biopsies - a case study

At a Glance

CategoryDetail
ConditionAcral melanoma
Key MechanismsClonal evolution and spatiotemporal heterogeneity leading to therapeutic resistance.
Target PopulationPatients with metastatic acral melanoma.
Care SettingOncology, specifically melanoma treatment centers.

Key Highlights

  • Demonstrated dynamic branching clonal evolution under systemic therapeutic stress.
  • Initial genetic testing revealed TERT mutation without KIT mutation.
  • Subsequent testing showed KIT mutation in advanced metastasis, indicating pre-existing subclonal population.
  • KIT p.Ala829Pro mutation exhibited resistance to imatinib.
  • Emphasized the importance of serial biopsies for capturing clonal dynamics.

Guideline-Based Recommendations

Diagnosis

  • Utilize multi-site biopsies for comprehensive genetic profiling.
  • Consider genetic testing for TERT and KIT mutations in acral melanoma.

Management

  • Implement targeted therapies based on identified mutations.
  • Monitor disease progression and adjust treatment strategies accordingly.

Monitoring & Follow-up

  • Regular imaging and clinical evaluations to assess treatment response.
  • Serial biopsies to track clonal evolution and mutation status.

Risks

  • Therapeutic resistance due to clonal evolution.
  • Potential for disease recurrence and metastasis despite treatment.

Patient & Prescribing Data

Patients with advanced acral melanoma and identified genetic mutations.

Combination therapies may be necessary due to inherent resistance of certain mutations.

Clinical Best Practices

  • Conduct comprehensive genetic testing for melanoma patients.
  • Utilize serial biopsies to monitor clonal evolution.
  • Adopt a personalized approach to treatment based on genetic findings.

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