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Essential thrombocytosis with the Philadelphia chromosome (Ph')
The American Journal of the Medical Sciences
|April 1, 1986
Summary
Essential thrombocytosis, a myeloproliferative neoplasm, can present with the Philadelphia chromosome. This case highlights that the Philadelphia chromosome is not exclusive to other myeloproliferative diseases.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Essential thrombocytosis is a myeloproliferative neoplasm characterized by excessive platelet production.
- It is generally not associated with consistent cytogenetic abnormalities.
- The Philadelphia chromosome is typically linked to other myeloproliferative neoplasms like chronic myeloid leukemia.
Observation:
- A 46-year-old African American woman presented with essential thrombocytosis.
- She also had iron deficiency and tuberculosis, which were treated without resolving the thrombocytosis.
- Bone marrow examination revealed megakaryocytic hyperplasia and abnormal platelet function.
Findings:
- The Philadelphia chromosome was consistently detected in bone marrow preparations of the patient.
- The patient's clinical presentation and diagnostic workup met the criteria for essential thrombocytosis.
- Diagnostic criteria for other myeloproliferative diseases were not fulfilled.
Implications:
- This case suggests that the Philadelphia chromosome can occur in essential thrombocytosis.
- It expands the known associations of the Philadelphia chromosome beyond its typical myeloproliferative disease links.
- Further research may be needed to understand the significance and prevalence of the Philadelphia chromosome in essential thrombocytosis.