Every case of essential thrombocythemia should be tested for the Philadelphia chromosome

Lawrence Rice, Uday Popat

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Essential thrombocythemia (ET) and chronic myelogenous leukemia (CML) usually present with distinctive features. Citing experience with cases that overlap, the Polycythemia Vera Study Group recommends that negative tests for the Philadelphia chromosome be obtained before diagnosing ET. We describe two young women presenting with features absolutely typical for ET, including extreme thrombocytosis, no leukocytosis, no basophilia, no peripheral immature cells, and no splenomegaly. Severe thrombotic complications ensued: multiple cerebrovascular thromboemboli, pulmonary emboli, and miscarriage in one and myocardial infarction in the other. By 4 years, both developed leukocytosis, extreme basophilia, and circulating blasts, typical of accelerated CML. Cytogenetic studies were then performed, revealing the Philadelphia chromosome, Imatinib produced rapid clearing of blasts and basophils, but one woman later succumbed after allogeneic bone marrow transplant and the other has not achieved a major cytogenetic response. We conclude that CML can present in identical fashion as ET. The mandate for routine Philadelphia chromosome testing is magnified by the availability of targeted therapy and its greater efficacy in early stage disease.

Original languageEnglish (US)
Pages (from-to)71-73
Number of pages3
JournalAmerican Journal of Hematology
Issue number1
StatePublished - Jan 2005


  • Chronic myelogenous leukemia
  • Essential thrombocythemia
  • Philadelphia chromosome
  • Thrombocytosis

ASJC Scopus subject areas

  • Hematology


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