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Mast cell disease followed by leukemia with clonal evolution.

J P Lewis1, J L Welborn, F J Meyers

  • 1Department of Internal Medicine, University of California, Davis.

Leukemia Research
|January 1, 1987
PubMed
Summary

This case study details a rare progression from urticaria pigmentosa to systemic mastocytosis and then to Philadelphia chromosome-negative chronic myelogenous leukemia (CML). The unique t(8;17) chromosomal abnormality in this CML case warrants further investigation for potential nonrandom association with mast cell disease.

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Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Urticaria pigmentosa can progress to systemic mastocytosis.
  • Systemic mastocytosis is a rare myeloproliferative neoplasm.
  • Chronic myelogenous leukemia (CML) is typically associated with the Philadelphia chromosome.

Observation:

  • A 29-year-old woman with urticaria pigmentosa developed systemic mastocytosis.
  • The patient subsequently progressed to Philadelphia chromosome-negative (Ph neg) CML.
  • The CML exhibited a unique t(8;17) chromosomal rearrangement without involvement of 9q34 or 22q11.

Findings:

  • This represents the first reported case of Ph neg CML with t(8;17) evolving from systemic mastocytosis.
  • The cytogenetic findings differentiate this case from other Ph neg CML.

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  • Further cytogenetic evolution was noted during disease transformation to the aggressive phase.

    • Implications:

    • The clinical relevance of the t(8;17) rearrangement in this context is currently unknown.
    • Additional case reports are needed to determine if this genetic abnormality is a nonrandom marker.
    • This research may offer insights into the pathogenesis of leukemia in patients with malignant mast cell disease.