title: JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.
abstract: Ras-associated autoimmune leukoproliferative disorder (RALD) is a chronic, nonmalignant condition that presents with persistent monocytosis and is often associated with leukocytosis, lymphoproliferation, and autoimmune phenomena. RALD has clinical and laboratory features that overlap with those of juvenile myelomonocytic leukemia (JMML) and chronic myelomonocytic leukemia (CMML), including identical somatic mutations in KRAS or NRAS genes noted in peripheral blood mononuclear cells. Long-term follow-up of these patients suggests that RALD has an indolent clinical course whereas JMML is fatal if left untreated. Immunophenotyping peripheral blood from RALD patients shows characteristic circulating activated monocytes and polyclonal CD10(+) B cells. Distinguishing RALD from JMML and CMML has implications for clinical care and prognosis.
authors.affiliation: Department of Laboratory Medicine, Clinical Center.
authors.forename: Katherine R
authors.identifier: http://orcid.org/0000-0002-0771-4191
authors.initials: KR
authors.lastname: Calvo
authors.affiliation: Laboratory of Immunology, National Institute of Allergy and Infectious Diseases (NIAID), NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD; and.
authors.forename: Susan
authors.initials: S
authors.lastname: Price
authors.affiliation: Department of Laboratory Medicine, Clinical Center.
authors.forename: Raul C
authors.initials: RC
authors.lastname: Braylan
authors.affiliation: Instituto de Medicina Integral Prof. Fernando Figueira, Recife, Brazil.
authors.forename: Joao Bosco
authors.initials: JB
authors.lastname: Oliveira
authors.affiliation: Laboratory of Immunology, National Institute of Allergy and Infectious Diseases (NIAID), NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD; and.
authors.forename: Michael
authors.initials: M
authors.lastname: Lenardo
authors.affiliation: Department of Laboratory Medicine, Clinical Center.
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Fleisher
authors.affiliation: Laboratory of Immunology, National Institute of Allergy and Infectious Diseases (NIAID), NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD; and.
authors.forename: V Koneti
authors.identifier: http://orcid.org/0000-0002-7881-6902
authors.initials: VK
authors.lastname: Rao
mesh_terms: D000293:Adolescent; D000328:Adult; D001327:Autoimmune Diseases / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D011905:Genes, ras; D006801:Humans; D054429:Leukemia, Myelomonocytic, Juvenile / Q000235:genetics* / Q000473:pathology; D007964:Leukocytosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult