title: Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia.
abstract: Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a subtype of T-acute lymphoblastic leukemia (T-ALL) arising from a primitive precursor. We present a unique case of an infant with ETP-ALL with a missense NRAS mutation in codon 61 (c.182A>G, p.Q61R). The patient also had a minor population of non-ETP T-ALL blasts and clinical features typically associated with juvenile myelomonocytic leukemia (JMML), namely, absolute monocytosis, splenomegaly, and elevated hemoglobin F. The treatment was initiated with chemotherapy, followed by cord blood transplantation. The patient achieved remission, but unfortunately died from transplant-related complications. This case highlights an NRAS mutation in ETP-ALL with JMML-like phenotype.
authors.affiliation: Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Sunil S
authors.initials: SS
authors.lastname: Raikar
authors.affiliation: Department of Laboratory Medicine, University of Washington, Seattle, Washington.
authors.forename: John D
authors.initials: JD
authors.lastname: Scarborough
authors.affiliation: Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Himalee
authors.initials: H
authors.lastname: Sabnis
authors.affiliation: Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: John
authors.initials: J
authors.lastname: Bergsagel
authors.affiliation: Department of Laboratory Medicine, University of Washington, Seattle, Washington.
authors.forename: David
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Seattle Children's Hospital, Seattle, Washington.
authors.forename: Todd M
authors.initials: TM
authors.lastname: Cooper
authors.affiliation: Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Frank G
authors.initials: FG
authors.lastname: Keller
authors.affiliation: Department of Laboratory Medicine, University of Washington, Seattle, Washington.
authors.forename: Brent L
authors.initials: BL
authors.lastname: Wood
authors.affiliation: Department of Pathology, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Silvia T
authors.initials: ST
authors.lastname: Bunting
mesh_terms: D036101:Cord Blood Stem Cell Transplantation; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000628:therapy
chemical_list: D008565:Membrane Proteins; D020558:GTP Phosphohydrolases; C579846:NRAS protein, human
keywords: ETP-ALL; JMML; NRAS