Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis

Walter Ageno, Francesco Dentali, Valerio De Stefano, Stefano Barco, Teresa Lerede, Mario Bazzan, Antonietta Piana, Rita Santoro, Rita Duce, Daniela Poli, Ida Martinelli, Sergio Siragusa, Giovanni Barillari, Marco Cattaneo, Gianpaolo Vidili, Monica Carpenedo, Elena Rancan, Ilaria Giaretta, Alberto Tosetto

Research output: Contribution to journalArticle

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Abstract

Introduction Splanchnic vein thrombosis (SVT) is a serious complication in patients with paroxysmal nocturnal hemoglobinuria (PNH). Mutant PNH clones can be associated with an increased risk of SVT even in the absence of overt disease, but their prevalence in non-selected SVT patients remains unknown. Materials and Methods Patients with objective diagnosis of SVT and without known PNH were tested for the presence of PNH clone using high-sensitivity flow cytometric analysis. Results A total of 202 SVT patients were eligible, 58.4% were males, mean age was 54.6 years (range 17-94), site of thrombosis was portal in 103 patients, mesenteric in 67, splenic in 37, and supra-hepatic in 10. SVT was associated with JAK2 V6167F in 28 of 126 (22.2%) screened patients, liver cirrhosis in 15.3% patients, recent surgery in 10.9%, and myeloproliferative neoplasm in 10.6%, whereas in 34.6% of patients neither permanent nor transient risk factors were detected. None of the patients had a clearly demonstrable PNH clone, but in two patients (0.99%, 95% CI 0.17-3.91) we observed very small PNH clones (size 0.014% and 0.16%) confirmed in two independent samples. One patient had portal vein thrombosis and no associated risk factors, the second had superior mesenteric vein thrombosis and inflammatory bowel disease. Conclusions Very small PNH clones can be detected in patients with SVT and no clinical manifestations of disease. Future studies are needed to explore the potential role of this finding in the pathogenesis of SVT.

Original languageEnglish
Pages (from-to)1052-1055
Number of pages4
JournalThrombosis Research
Volume133
Issue number6
DOIs
Publication statusPublished - 2014

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Paroxysmal Hemoglobinuria
Viscera
Veins
Thrombosis
Phenotype
Population
Clone Cells
Mesenteric Veins
Portal Vein
Inflammatory Bowel Diseases
Liver Cirrhosis

ASJC Scopus subject areas

  • Hematology
  • Medicine(all)

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Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis. / Ageno, Walter; Dentali, Francesco; De Stefano, Valerio; Barco, Stefano; Lerede, Teresa; Bazzan, Mario; Piana, Antonietta; Santoro, Rita; Duce, Rita; Poli, Daniela; Martinelli, Ida; Siragusa, Sergio; Barillari, Giovanni; Cattaneo, Marco; Vidili, Gianpaolo; Carpenedo, Monica; Rancan, Elena; Giaretta, Ilaria; Tosetto, Alberto.

In: Thrombosis Research, Vol. 133, No. 6, 2014, p. 1052-1055.

Research output: Contribution to journalArticle

Ageno, W, Dentali, F, De Stefano, V, Barco, S, Lerede, T, Bazzan, M, Piana, A, Santoro, R, Duce, R, Poli, D, Martinelli, I, Siragusa, S, Barillari, G, Cattaneo, M, Vidili, G, Carpenedo, M, Rancan, E, Giaretta, I & Tosetto, A 2014, 'Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis', Thrombosis Research, vol. 133, no. 6, pp. 1052-1055. https://doi.org/10.1016/j.thromres.2014.03.044
Ageno, Walter ; Dentali, Francesco ; De Stefano, Valerio ; Barco, Stefano ; Lerede, Teresa ; Bazzan, Mario ; Piana, Antonietta ; Santoro, Rita ; Duce, Rita ; Poli, Daniela ; Martinelli, Ida ; Siragusa, Sergio ; Barillari, Giovanni ; Cattaneo, Marco ; Vidili, Gianpaolo ; Carpenedo, Monica ; Rancan, Elena ; Giaretta, Ilaria ; Tosetto, Alberto. / Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis. In: Thrombosis Research. 2014 ; Vol. 133, No. 6. pp. 1052-1055.
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title = "Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis",
abstract = "Introduction Splanchnic vein thrombosis (SVT) is a serious complication in patients with paroxysmal nocturnal hemoglobinuria (PNH). Mutant PNH clones can be associated with an increased risk of SVT even in the absence of overt disease, but their prevalence in non-selected SVT patients remains unknown. Materials and Methods Patients with objective diagnosis of SVT and without known PNH were tested for the presence of PNH clone using high-sensitivity flow cytometric analysis. Results A total of 202 SVT patients were eligible, 58.4{\%} were males, mean age was 54.6 years (range 17-94), site of thrombosis was portal in 103 patients, mesenteric in 67, splenic in 37, and supra-hepatic in 10. SVT was associated with JAK2 V6167F in 28 of 126 (22.2{\%}) screened patients, liver cirrhosis in 15.3{\%} patients, recent surgery in 10.9{\%}, and myeloproliferative neoplasm in 10.6{\%}, whereas in 34.6{\%} of patients neither permanent nor transient risk factors were detected. None of the patients had a clearly demonstrable PNH clone, but in two patients (0.99{\%}, 95{\%} CI 0.17-3.91) we observed very small PNH clones (size 0.014{\%} and 0.16{\%}) confirmed in two independent samples. One patient had portal vein thrombosis and no associated risk factors, the second had superior mesenteric vein thrombosis and inflammatory bowel disease. Conclusions Very small PNH clones can be detected in patients with SVT and no clinical manifestations of disease. Future studies are needed to explore the potential role of this finding in the pathogenesis of SVT.",
author = "Walter Ageno and Francesco Dentali and {De Stefano}, Valerio and Stefano Barco and Teresa Lerede and Mario Bazzan and Antonietta Piana and Rita Santoro and Rita Duce and Daniela Poli and Ida Martinelli and Sergio Siragusa and Giovanni Barillari and Marco Cattaneo and Gianpaolo Vidili and Monica Carpenedo and Elena Rancan and Ilaria Giaretta and Alberto Tosetto",
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T1 - Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria phenotype in patients with splanchnic vein thrombosis

AU - Ageno, Walter

AU - Dentali, Francesco

AU - De Stefano, Valerio

AU - Barco, Stefano

AU - Lerede, Teresa

AU - Bazzan, Mario

AU - Piana, Antonietta

AU - Santoro, Rita

AU - Duce, Rita

AU - Poli, Daniela

AU - Martinelli, Ida

AU - Siragusa, Sergio

AU - Barillari, Giovanni

AU - Cattaneo, Marco

AU - Vidili, Gianpaolo

AU - Carpenedo, Monica

AU - Rancan, Elena

AU - Giaretta, Ilaria

AU - Tosetto, Alberto

PY - 2014

Y1 - 2014

N2 - Introduction Splanchnic vein thrombosis (SVT) is a serious complication in patients with paroxysmal nocturnal hemoglobinuria (PNH). Mutant PNH clones can be associated with an increased risk of SVT even in the absence of overt disease, but their prevalence in non-selected SVT patients remains unknown. Materials and Methods Patients with objective diagnosis of SVT and without known PNH were tested for the presence of PNH clone using high-sensitivity flow cytometric analysis. Results A total of 202 SVT patients were eligible, 58.4% were males, mean age was 54.6 years (range 17-94), site of thrombosis was portal in 103 patients, mesenteric in 67, splenic in 37, and supra-hepatic in 10. SVT was associated with JAK2 V6167F in 28 of 126 (22.2%) screened patients, liver cirrhosis in 15.3% patients, recent surgery in 10.9%, and myeloproliferative neoplasm in 10.6%, whereas in 34.6% of patients neither permanent nor transient risk factors were detected. None of the patients had a clearly demonstrable PNH clone, but in two patients (0.99%, 95% CI 0.17-3.91) we observed very small PNH clones (size 0.014% and 0.16%) confirmed in two independent samples. One patient had portal vein thrombosis and no associated risk factors, the second had superior mesenteric vein thrombosis and inflammatory bowel disease. Conclusions Very small PNH clones can be detected in patients with SVT and no clinical manifestations of disease. Future studies are needed to explore the potential role of this finding in the pathogenesis of SVT.

AB - Introduction Splanchnic vein thrombosis (SVT) is a serious complication in patients with paroxysmal nocturnal hemoglobinuria (PNH). Mutant PNH clones can be associated with an increased risk of SVT even in the absence of overt disease, but their prevalence in non-selected SVT patients remains unknown. Materials and Methods Patients with objective diagnosis of SVT and without known PNH were tested for the presence of PNH clone using high-sensitivity flow cytometric analysis. Results A total of 202 SVT patients were eligible, 58.4% were males, mean age was 54.6 years (range 17-94), site of thrombosis was portal in 103 patients, mesenteric in 67, splenic in 37, and supra-hepatic in 10. SVT was associated with JAK2 V6167F in 28 of 126 (22.2%) screened patients, liver cirrhosis in 15.3% patients, recent surgery in 10.9%, and myeloproliferative neoplasm in 10.6%, whereas in 34.6% of patients neither permanent nor transient risk factors were detected. None of the patients had a clearly demonstrable PNH clone, but in two patients (0.99%, 95% CI 0.17-3.91) we observed very small PNH clones (size 0.014% and 0.16%) confirmed in two independent samples. One patient had portal vein thrombosis and no associated risk factors, the second had superior mesenteric vein thrombosis and inflammatory bowel disease. Conclusions Very small PNH clones can be detected in patients with SVT and no clinical manifestations of disease. Future studies are needed to explore the potential role of this finding in the pathogenesis of SVT.

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