Persistent cytopenias in a patient transplanted for myelodysplastic syndrome
- 2024, Volume 43 - Number 1
- Published: June 28, 2024
Persistent cytopenias in a patient transplanted for myelodysplastic syndrome
Marta Santiago 1, Irene Luna 2, Ana I. Vicente 2, Amparo Sempere-Talens 3, Marta Villalba 4, José V. Gil 5, Juan Eirís 2, Pablo Granados 2, David Martínez 2, Gayane Avetisyan 5, Álvaro Díaz 4, Eva Barragán-González 6, Ángel Zúñiga 7, Esperanza Such 4, Javier de la Rubia 4, José Cervera 1, Leonor Senent 4
1 Servicio de Hematología, Hospital Universitario y Politécnico La Fe; Unidad de Genética, Hospital Universitario y Politécnico La Fe; Grupo de Investigación Hematología, IISLAFE; Valencia, España; 2 Servicio de Hematología, Hospital Universitario y Politécnico La Fe, Valencia, España; 3 Servicio de Hematología y Hemoterapia, Hospital Universitari i Politècnic La Fe, Valencia, España; 4 Servicio de Hematología, Hospital Universitario y Politécnico La Fe; Grupo de Investigación Hematología, IISLAFE; Valencia, España; 5 Grupo de Investigación Hematología, IISLAFE, Valencia, España; 6 Unidad de Biología Molecular, Servicio de Análisis Clínicos, Hospital Universitari i Politècnic La Fe, Valencia, España; 7 Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, España
Marta Santiago, Irene Luna, Ana I. Vicente, Amparo Sempere-Talens, Marta Villalba, José V. Gil, Juan Eirís, Pablo Granados, David Martínez, Gayane Avetisyan, Álvaro Díaz, Eva Barragán-González, Ángel Zúñiga, Esperanza Such, Javier de la Rubia, José Cervera, Leonor Senent
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Álvaro Díaz, Email not available
Summary
The case describes a 53-year-old male diagnosed with myelodysplastic syndrome (MDS), who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) from his HLA-identical sister. Two years after the allo-HSCT, the patient developed persistent cytopenias in all hematopoietic lineages, along with dysplastic signs in bone marrow and complete donor chimerism, ultimately labeled as donor cell-derived MDS. Molecular analysis revealed the presence of various pathogenic variants in the DDX41 gene, suggesting a genetic predisposition to myeloid neoplasms. This case underscores the urgent need for a comprehensive approach in the diagnosis and management of hematologic malignancies, and how significant it is to identify germline predispositions that may influence disease progression. It also emphasizes the necessity of continuous monitoring and proper management of post-transplant complications, advocating for careful consideration of family history and genetic aspects in the overall management of these clinical conditions.
Keywords: Myelodysplastic syndrome. Cytopenias. Germline predisposition. DDX41.
