What question did this study set out to answer?

This case aims to highlight the intersection of tumor genomics and myeloid neoplasms.

March 14, 2026Open Access

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

Key Points

This case aims to highlight the intersection of tumor genomics and myeloid neoplasms.
Case report of a 67-year-old male patient with metastatic melanoma.
Tumor sequencing identified DNMT3A and SF3B1 mutations.
Comprehensive bone marrow evaluation was performed.
The patient was diagnosed with myelodysplastic syndrome with SF3B1 mutation.
The systemic mastocytosis component was negative for the KIT D816V mutation.
Aberrant expression of CD25 was noted in the mastocytosis component.

Abstract

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.

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