Absence of the V617F JAK2 Mutation in the Lymphoid Compartment in a Patient with Essential Thrombo- cythemia and B-Chronic Lymphocytic Leukemia and in Two Relatives with Lymphoproliferative Disorders

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Myeloproliferative neoplasms likely involve both myeloid and lymphoid lineages. Nevertheless, the coincidence of chronic myeloproliferative and lymphoproliferative diseases in the same patient is a rare phenomenon.


We report a case of a patient having essential thrombocythemia (ET) and B-chronic lymphocytic leukemia (B-CLL). In this patient and in 2 relatives with lymphoproliferative disorders, we searched for JAK2V617F mutation in lymphocytes.


In the patient with ET and B-CLL, we identified homozygous JAK2V617F mutation in the granulocytic compartment. Both relatives were heterozygous for JAK2V617F mutation, whereas no mutation signal could be detected in the lymphoid compartment of all 3 patients.


Our results seem to confirm that CLL cases are negative for JAK2V617F mutation in B- and T-lymphocyte populations. Presence of JAK2V617F mutation in subjects without myeloproliferative diseases could indicate an increased risk of a future myeloproliferative neoplasm development.

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