The indication for performing an allogeneic hematopoietic stem cell transplantation (allo-HCT) in patients with isolated trisomy 8 AML in first complete remission (CR) is still debated. Here, we compared outcomes of such patients given either allo-HCT or autologous (auto)-HCT. Inclusion criteria consisted of adult patients with de novo AML, isolated trisomy 8, first HCT between 2000 and 2018, CR1 at transplantation, and either auto-HCT or allo-HCT with a HLA-identical sibling donor (MSD) or a 10/10 HLA-matched unrelated donor (UD 10/10). A total of 401 patients met the inclusion criteria. They underwent an auto-HCT (n = 81), allo-HCT with a MSD (n = 186) or allo-HCT with a 10/10 UD (n = 134). At 3 years, relapse incidence, nonrelapse mortality and leukemia-free survival (LFS) were 59%, 5%, and 37%, respectively, in auto-HCT recipients; 31% (P < 0.001), 14% (P = 0.04), and 55% (P = 0.033), respectively, in MSD recipients and 29% (P < 0.001), 13% (P = 0.15), and 59% (P = 0.03), respectively, in UD 10/10 recipients. In multivariate analysis, in comparison to auto-HCT, MSD and UD 10/10 were associated with a lower risk of relapse (HR = 0.47, P < 0.001 and HR = 0.40, P < 0.001, respectively) translating to better LFS (HR = 0.69, P = 0.04 and HR = 0.60, P = 0.03, respectively). There was also a similar trend for overall survival (HR = 0.73, P = 0.12 and HR = 0.65, P = 0.08).
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http://dx.doi.org/10.1038/s41409-020-01051-6 | DOI Listing |
BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFJ Perinat Med
December 2024
Obstetrics Service and Fetal Medicine Unit, Department of Obstetrics, Gynecology, and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.
Objectives: This study aimed to evaluate the association of aberrant right subclavian artery (ARSA) with genetic abnormalities and postnatal symptomatology, by comparing isolated and non-isolated ARSA cases.
Methods: Retrospective, descriptive and comparative study involving fetuses diagnosed with ARSA during routine fetal ultrasound scans, between 19 and 40 weeks, in a tertiary referral university hospital in Barcelona from January 2007 to December 2023.
Results: Out of 154 fetuses diagnosed with ARSA, 75.
Prenat Diagn
December 2024
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
December 2024
Department of Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Objectives: Practice variability exists regarding the timing of gastrostomy tube (GT) placement in patients unable to maintain adequate oral nutrition. We sought to assess patient factors predictive of longer surgical GT use to inform patient selection.
Methods: We conducted a single-center, retrospective cohort study including children ≤18 years who underwent surgical GT placement from June 1, 2018 to June 1, 2021 at a children's hospital.
Rev Assoc Med Bras (1992)
December 2024
University of Health Sciences, Turkish Ministry of Health Ankara City Hospital, Department of Obstetrics and Gynecology, Division of Perinatology - Ankara, Turkey.
Objective: The objective of this study was to evaluate the descriptive outcomes of 38 prenatally suspected clubfoot cases.
Methods: This is a retrospective cohort study conducted in Ankara Bilkent City Hospital's perinatology clinic. All consecutive cases with the diagnosis of fetal clubfoot between 2020 and 2023 were included.
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