A novel GATA1 variant linking germline and somatic myelodysplastic syndrome in two patients

Nuria Revilla; Mireia Atance; Jose María Grasa; Alejandro García-Ortego; Carlos Soto; Socorro María Rodríguez-Pinilla; Teresa Arquero; Sara Perlado; Selene Ledesma; Esperanza Esquinas-Tarifa; Juana Serrano-López; Jose Luis López-Lorenzo; Diego Velasco-Rodríguez; Juan Manuel Alonso-Dominguez; Raquel Mata; Pilar Llamas-Sillero; Rocío N. Salgado; Ana Rio-Machin

doi:10.3324/haematol.2025.289133

Open access journal of the Ferrata-Storti Foundation, a non-profit organization

Case Reports

A novel GATA1 variant linking germline and somatic myelodysplastic syndrome in two patients

Nuria Revilla
Mireia Atance
Jose María Grasa
Alejandro García-Ortego
Carlos Soto
Socorro María Rodríguez-Pinilla
Teresa Arquero
Sara Perlado
Selene Ledesma
Esperanza Esquinas-Tarifa
Juana Serrano-López
Jose Luis López-Lorenzo
Diego Velasco-Rodríguez
Juan Manuel Alonso-Dominguez
Raquel Mata
Pilar Llamas-Sillero
Rocío N. Salgado
Ana Rio-Machin

Hematology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid, Spain; Experimental Hematology Lab, Health Research Institute Fundacion Jimenez Diaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid

Hematology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid

Hematology Department, Hospital Quironsalud Zaragoza, Zaragoza

Hematology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid

Pathology Department, Health Research Institute Fundacion Jimenez Diaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid

Hematology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid

Experimental Hematology Lab, Health Research Institute Fundacion Jimenez Diaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid

Hematology Department, Hospital Universitario Fundacion Jimenez Diaz, Madrid

Experimental Hematology Lab, Health Research Institute Fundacion Jimenez Diaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London

Haematologica Early view Dec 24, 2025 https://doi.org/10.3324/haematol.2025.289133

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Early view : Case Reports

DOI

https://doi.org/10.3324/haematol.2025.289133

Published

2025-12-24

Published By

Ferrata Storti Foundation, Pavia, Italy

Print ISSN

0390-6078

Online ISSN

1592-8721

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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A novel GATA1 variant linking germline and somatic myelodysplastic syndrome in two patients

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