Thrombocytosis in an Infant With High Thrombopoietin Concentrations
Jane Silva Hankins, Paula E. Naidu, Martha D. Rieman, Winfred C. Wang, Kenneth Kaushansky, Carlos Rodríguez‐Galindo
Abstract
Jane Silva Hankins, Paula E. Naidu, Martha D. Rieman, Winfred C. Wang, Kenneth Kaushansky, Carlos Rodríguez‐Galindo
Abstract
Patients with essential thrombocythemia (ET) usually have normal thrombopoietin (TPO) concentrations because of negative feedback from thrombocytosis. TPO mutations in familial ET cases result in increased translation efficiency with excessive TPO stimulation and thrombocytosis. The authors describe an infant with a high platelet count (1300 x 103/mm3) and an elevated TPO concentration who was successfully treated with anagrelide. Sequencing of TPO revealed no genetic cause. This case may represent a case of atypical ET in which thrombocytosis results from TPO stimulation rather than clonal proliferation. Measuring TPO concentrations may be warranted for children with unexplained extreme thrombocytosis.
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Patients with essential thrombocythemia (ET) usually have normal thrombopoietin (TPO) concentrations because of negative feedback from thrombocytosis. TPO mutations in familial ET cases result in increased translation efficiency with excessive TPO stimulation and thrombocytosis. The authors describe an infant with a high platelet count (1300 x 103/mm3) and an elevated TPO concentration who was successfully treated with anagrelide. Sequencing of TPO revealed no genetic cause. This case may represent a case of atypical ET in which thrombocytosis results from TPO stimulation rather than clonal proliferation. Measuring TPO concentrations may be warranted for children with unexplained extreme thrombocytosis.
Key concepts: Thrombopoietin, Medicine, Thrombocytosis, Intensive care medicine, Immunology, Platelet, Haematopoiesis, Stem cell