Objective Several studies demonstrated a high prevalence of nonrandom X-chromosome inactivation pattern (X-CIP) in essential thrombocythemia (ET). This study explored the incidence of clonal hemopoiesis in myeloid precursors and endogenous erythroid colonies (EECs) in ET patients and its correlation with thrombotic manifestations. Materials and Methods Clonal analysis of hemopoiesis using X-CIP was performed in 40 female patients with ET. Median age was 40.5 years (range 20–64), and median platelet count at testing time was 700 × 109/L (range 220–1300 × 109/L). Patients older than 65 years were excluded to reduce age-related skewing. Clonality was assessed on neutrophils, platelets, EECs, and bone marrow CD34+ cells. Results Eight (20%) of 40 patients developed thrombosis mainly at diagnosis. Clonal hemopoiesis was found in 17 (42.5%) patients, 15 (37.5%) had polyclonal hemopoiesis, and 8 (20%) were considered uninterpretable due to constitutive skewing. Clonality was confirmed on purified CD34+ subpopulations from bone marrow, documenting that clonality does not appear lineage-restricted. There were no statistical differences in age at diagnosis, median platelet count at testing time, and length of follow-up. Thrombotic episodes were significantly more frequent in the monoclonal group (p = 0.04, Fisher exact test). Conclusions Young female patients with ET exhibiting a clonal pattern of hemopoiesis by X-CIP analysis are at higher risk for thrombosis. X-CIP analysis may contribute to defining the individual risk leading to appropriate treatment. X-CIP will allow a correct diagnosis in patients with latent myeloproliferative disorders and thrombosis in unusual sites. Clonal hemopoiesis is easily recognized by X-CIP, but its applicability is limited to the female sex and is hampered by the presence of age-related or constitutive skewing.

CLONAL HEMOPOIESIS AND RISK OF THROMBOSIS IN YOUNG FEMALE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA / Chiusolo, P; LA BARBERA, Eo; Laurenti, L; Piccirillo, N; Sora, F; Giordano, G; Urbano, R; Mazzucconi, Maria Gabriella; DE STEFANI, V; Leone, G; Sica, S.. - In: EXPERIMENTAL HEMATOLOGY. - ISSN 0301-472X. - 29:(2001), pp. 670-676. [10.1016/S0301-472X(01)00640-3]

CLONAL HEMOPOIESIS AND RISK OF THROMBOSIS IN YOUNG FEMALE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA

MAZZUCCONI, Maria Gabriella;
2001

Abstract

Objective Several studies demonstrated a high prevalence of nonrandom X-chromosome inactivation pattern (X-CIP) in essential thrombocythemia (ET). This study explored the incidence of clonal hemopoiesis in myeloid precursors and endogenous erythroid colonies (EECs) in ET patients and its correlation with thrombotic manifestations. Materials and Methods Clonal analysis of hemopoiesis using X-CIP was performed in 40 female patients with ET. Median age was 40.5 years (range 20–64), and median platelet count at testing time was 700 × 109/L (range 220–1300 × 109/L). Patients older than 65 years were excluded to reduce age-related skewing. Clonality was assessed on neutrophils, platelets, EECs, and bone marrow CD34+ cells. Results Eight (20%) of 40 patients developed thrombosis mainly at diagnosis. Clonal hemopoiesis was found in 17 (42.5%) patients, 15 (37.5%) had polyclonal hemopoiesis, and 8 (20%) were considered uninterpretable due to constitutive skewing. Clonality was confirmed on purified CD34+ subpopulations from bone marrow, documenting that clonality does not appear lineage-restricted. There were no statistical differences in age at diagnosis, median platelet count at testing time, and length of follow-up. Thrombotic episodes were significantly more frequent in the monoclonal group (p = 0.04, Fisher exact test). Conclusions Young female patients with ET exhibiting a clonal pattern of hemopoiesis by X-CIP analysis are at higher risk for thrombosis. X-CIP analysis may contribute to defining the individual risk leading to appropriate treatment. X-CIP will allow a correct diagnosis in patients with latent myeloproliferative disorders and thrombosis in unusual sites. Clonal hemopoiesis is easily recognized by X-CIP, but its applicability is limited to the female sex and is hampered by the presence of age-related or constitutive skewing.
2001
01 Pubblicazione su rivista::01a Articolo in rivista
CLONAL HEMOPOIESIS AND RISK OF THROMBOSIS IN YOUNG FEMALE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA / Chiusolo, P; LA BARBERA, Eo; Laurenti, L; Piccirillo, N; Sora, F; Giordano, G; Urbano, R; Mazzucconi, Maria Gabriella; DE STEFANI, V; Leone, G; Sica, S.. - In: EXPERIMENTAL HEMATOLOGY. - ISSN 0301-472X. - 29:(2001), pp. 670-676. [10.1016/S0301-472X(01)00640-3]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/90392
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