Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Bone Marrow Transplant
; 58(1): 39-45, 2023 01.
Article
en En
| MEDLINE
| ID: mdl-36195768
ABSTRACT
Allogeneic hematopoietic stem cell transplantation (HSCT) provides patients with severe hematologic disease a well-established potential for curation. Incorporation of germline analyses in the workup of HSCT patients is not a common practice. Recognizing rare harmful germline variants may however affect patients' pre-transplantation care, choice of the stem cell donor, and complication risks. We analyzed a population-based series of germline exome data of 432 patients who had undergone HSCT. Our aim was to identify clinically relevant variants that may challenge the outcome of the HSCT. We focused on genes predisposing to hematological diseases, or solid tumors, and genes included in the American College of Medical Genetics secondary findings list v3.0. As population-specific controls, we used GnomAD non-cancer Finns (n = 10,816). We identified in our population-based analysis rare harmful germline variants in disease-predisposing or actionable toxicity-increasing genes in 17.8% of adult and pediatric patients that have undergone HSCT (15.1% and 22.9%, respectively). More than half of the patients with a family member as a donor had not received genetic diagnosis prior to the HSCT. Our results encourage clinicians to incorporate germline genetic testing in the HSCT protocol in the future in order to reach optimal long-term outcome for the patients.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trasplante de Células Madre Hematopoyéticas
/
Enfermedades Hematológicas
Tipo de estudio:
Guideline
/
Prognostic_studies
Límite:
Adult
/
Child
/
Humans
Idioma:
En
Revista:
Bone Marrow Transplant
Asunto de la revista:
TRANSPLANTE
Año:
2023
Tipo del documento:
Article
País de afiliación:
Finlandia