The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis

Antonella Zagaria; Francesco Tarantini; Paola Orsini; Luisa Anelli; Cosimo Cumbo; Nicoletta Coccaro; Giuseppina Tota; Crescenzio Francesco Minervini; Elisa Parciante; Maria Rosa Conserva; Immacolata Redavid; Alessandra Ricco; Immacolata Attolico; Giorgina Specchia; Pellegrino Musto; Francesco Albano

doi:10.1186/s40164-022-00301-1

Experimental Hematology & Oncology (Aug 2022)

The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis

Antonella Zagaria,
Francesco Tarantini,
Paola Orsini,
Luisa Anelli,
Cosimo Cumbo,
Nicoletta Coccaro,
Giuseppina Tota,
Crescenzio Francesco Minervini,
Elisa Parciante,
Maria Rosa Conserva,
Immacolata Redavid,
Alessandra Ricco,
Immacolata Attolico,
Giorgina Specchia,
Pellegrino Musto,
Francesco Albano

Affiliations

Antonella Zagaria: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Francesco Tarantini: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Paola Orsini: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Luisa Anelli: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Cosimo Cumbo: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Nicoletta Coccaro: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Giuseppina Tota: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Crescenzio Francesco Minervini: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Elisa Parciante: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Maria Rosa Conserva: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Immacolata Redavid: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Alessandra Ricco: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Immacolata Attolico: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Giorgina Specchia: School of Medicine, University of Bari “Aldo Moro”
Pellegrino Musto: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”
Francesco Albano: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari “Aldo Moro”

DOI: https://doi.org/10.1186/s40164-022-00301-1
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 4

Abstract

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Abstract Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have previously demonstrated an association between erythrocytosis and the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. In the present study, we investigated genomic and clinical features of 80 erythrocytosis patients with the aim to provide useful information in clinical practice. Patients with idiopathic erythrocytosis could have a genomic germline background, eventually associated with somatic variants. Through association analysis, we show that male patients presenting with idiopathic erythrocytosis, and normal EPO levels could be the best candidates for the search for the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. Further studies are needed to confirm these findings and to depict detailed genomic and phenotypical characteristics of these patients.

Published in Experimental Hematology & Oncology

ISSN: 2162-3619 (Online)
Publisher: BMC
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the blood and blood-forming organs; Medicine: Internal medicine: Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Website: https://ehoonline.biomedcentral.com

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Abstract

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