Journal of pediatric hematology/oncology
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J. Pediatr. Hematol. Oncol. · Nov 2018
Case ReportsA Heterozygous CFHR3-CFHR1 Gene Deletion in a Pediatric Patient With Transplant-associated Thrombotic Microangiopathy Who was Treated With Eculizumab.
Complement system dysregulation, such as complement Factor H (CFH) autoantibodies and deletions in CFH-related (CFHR) genes 3 and 1, might cause transplant-associated thrombotic microangiopathy (TA-TMA). The use of eculizumab, a terminal complement inhibitor, could be a targeted therapy for TA-TMA. ⋯ Investigation for the complement alternative pathway showed a heterozygous CFHR3-CFHR1 gene deletion, which is involved in complement activation. The patient might develop TA-TMA as a result of complement regulatory gene mutation.
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J. Pediatr. Hematol. Oncol. · Nov 2018
APRIL is Involved in the Proliferation and Metastasis of Acute Lymphoblastic Leukemia Cells.
Our previous work showed that a proliferation-inducing ligand (APRIL) was involved in the development of acute lymphoblastic leukemia (ALL) in children. However, the precise role of APRIL in ALL remains unknown. To investigate this issue, we silenced and overexpressed APRIL in Nalm-6 ALL cells using short hairpin RNA targeting the APRIL gene and recombinant human APRIL, respectively, and evaluated the effects on cell proliferation, apoptosis, and migration. ⋯ APRIL knockdown increased apoptosis (P<0.01) but suppressed cell migration along with matrix metalloproteinase-2 protein level. Overexpressing recombinant human APRIL had the opposite effects in each case (P<0.05). These results demonstrate a link between APRIL expression and ALL development and suggest that APRIL is a potential therapeutic target for ALL treatment.
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J. Pediatr. Hematol. Oncol. · Aug 2018
Case ReportsKLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
We identified a child with KLF1-E325K congenital dyserythropoietic anemia type IV who experienced a severe clinical course, fetal anemia, hydrops fetalis, and postnatal transfusion dependence only partially responsive to splenectomy. The child also had complete sex reversal, the cause which remains undetermined. ⋯ Hypomorphic alleles in SEC23B and YARS2 were also identified. We hypothesize that coinheritance of variants in relevant erythrocyte genes contribute to the clinical course in our patient and other E325K-linked congenital dyserythropoietic anemia IV patients with severe clinical phenotypes.
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J. Pediatr. Hematol. Oncol. · Aug 2018
Hepatitis-associated Aplastic Anemia Treated Successfully With Antithymocyte Globulin.
Hepatitis-associated aplastic anemia (HAAA) is a variant of acquired aplastic anemia in which bone marrow failure follows the development of an acute episode of seronegative hepatitis. HAAA occurs most frequently in male children and is lethal if left untreated. Antilymphocyte globulin, antithymocyte globulin, and allogeneic bone marrow transplantation have been used in the treatment of this disease. In this work, we report the case of a 3-year-old boy with HAAA treated successfully with immunosuppressive therapy.
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J. Pediatr. Hematol. Oncol. · May 2018
Review Case ReportsGATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia.
GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications.