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<p>We report a unique case in a 67-year-old male patient in &#xa0;whom melanoma tumor sequencing identified <i>DNMT3A</i> and <i>SF3B1</i> mutations suggesting tumor-infiltrating clonal hematopoiesis. Following comprehensive bone marrow evaluation, the patient was discovered to have a well-differentiated (WD) systemic mastocytosis with an associated myeloid neoplasm (SM-AMN) best classified as myelodysplastic syndrome with <i>SF3B1</i> mutation. Notably, the SM component was negative for <i>KIT</i> D816V mutation, as expected for WD-SM; however, the immunophenotype was atypical with aberrant expression of CD25. This case highlights the potential for solid tumor genomics to expose occult myeloid neoplasms incidentally and underscores the importance of a comprehensive workup, including bone marrow examination, in distinguishing between incidental clonal hematopoiesis and bona fide myeloid neoplasms.</p>

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Presumed tumor-infiltrating clonal hematopoiesis unmasking a concomitant systemic mastocytosis with associated myeloid neoplasm in a patient with metastatic melanoma

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月11日

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  • Yuanzhe Zhu,
  • Sa A. Wang,
  • Kelly Chien,
  • Keyur P. Patel,
  • Volha Lenskaya,
  • L. Jeffrey Medeiros,
  • Hussein A. Abbas,
  • Sanam Loghavi

摘要

We report a unique case in a 67-year-old male patient in  whom melanoma tumor sequencing identified DNMT3A and SF3B1 mutations suggesting tumor-infiltrating clonal hematopoiesis. Following comprehensive bone marrow evaluation, the patient was discovered to have a well-differentiated (WD) systemic mastocytosis with an associated myeloid neoplasm (SM-AMN) best classified as myelodysplastic syndrome with SF3B1 mutation. Notably, the SM component was negative for KIT D816V mutation, as expected for WD-SM; however, the immunophenotype was atypical with aberrant expression of CD25. This case highlights the potential for solid tumor genomics to expose occult myeloid neoplasms incidentally and underscores the importance of a comprehensive workup, including bone marrow examination, in distinguishing between incidental clonal hematopoiesis and bona fide myeloid neoplasms.