Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.
Maiko HiraiHiroshi YagasakiKoji KanezawaMasaru UenoKatsuyoshi ShimozawaKohsuke ImaiTomohiro MorioMotohiro KatoYoshihiro GochoSatoshi NarumiYasuhiro EbiharaIchiro MoriokaPublished in: Journal of pediatric hematology/oncology (2022)
Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post-cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow-derived CD34 + cells was inferred.
Keyphrases
- cord blood
- end stage renal disease
- ejection fraction
- case report
- newly diagnosed
- white matter
- prognostic factors
- type diabetes
- stem cells
- gene expression
- metabolic syndrome
- dna repair
- induced apoptosis
- cell therapy
- multiple sclerosis
- dna damage
- oxidative stress
- dna methylation
- insulin resistance
- cell death
- skeletal muscle
- early onset
- copy number
- bone marrow
- iron deficiency