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Juvenile myelomonocytic leukemia (JMML) is a rare disease in young children, with an incidence rate of 1.2 per million children per year. 1 Although the clinical outcome among children with JMML depends on their genotypes, most patients require hematopoietic stem cell transplant (HSCT) as a curative therapy. In general, patients with somatic PTPN11 mutations have poor prognoses without HSCT. 2,3 A 2-month-old infant was referred to our hospital because of fever and repeated skin infections. A complete blood cell count showed

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.

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