Fanconi Anemia Phenotypic and Transplant Outcomes' Associations in Iranian Patients Publisher

Summary: #FanconiAnemia research suggests hematopoietic stem cell transplants improved survival in patients with varied malformations. Could precision medicine enhance outcomes further? 72.2% survived in 3 years. #HSCT #Genetics

Ansari F¹ ; Behfar M^{1, 2} ; Naji P¹ ; Darvish Z³ ; Rostami T³ ; Mohseni R¹ ; Alimoghaddam K⁴ ; Salajegheh P⁵ ; Ahadi B¹ ; Mardani M¹ ; Hamidieh AA¹
Source: Health Science Reports Published:2023

Abstract

Objectives: Fanconi anemia (FA) is a rare, heterogeneous, inherited disorder. Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only therapeutic option to restore normal hematopoiesis. This study reports the outcomes of FA-HSCT patients and identifies factors, including clinical phenotype. Our team examined more than 95% of Iranian FA patients during the last decade. Study Design: One hundred and six FA patients (age range: 2–41) who underwent HSCT from March 2007 to February 2018 were enrolled. Clinical characteristics of genetic disease, pre-HSCT findings, HSCT indication, and long-term follow-up evaluated and recorded. Data were analyzed using SPSS 19.0. Results: The mean follow-up period for survivors was 36 months (range, 1–101). The 3-year overall survival (OS) and disease-free survival were 72.2% and 71.2%, respectively. The 3-year OS rate for patients with limited and extensive malformations was 78.8% and 56.6%, respectively (p = 0.025). Acute graft versus host disease incidence was 60.52% for patients with limited malformations versus 70% for patients with extensive ones (p = 0.49). Chronic graft versus host disease incidence for these two groups was 9.21% and 10%, respectively (p = 0.91). Conclusions: OS was not associated with each of the malformations singly; however, it was lower in the extensive group. The younger age of patients at the HSCT time leads to a higher OS. The differences in FA patients' outcomes and the various genotypes were probably related. These data provide a powerful tool for further studies on genotype–phenotype association with HSCT results. © 2023 The Authors. Health Science Reports published by Wiley Periodicals LLC.