JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities

Blood. 2015 Apr 30;125(18):2753-8. doi: 10.1182/blood-2014-11-567917. Epub 2015 Feb 17.

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Autoimmune Diseases / genetics*
  • Autoimmune Diseases / pathology
  • Child
  • Child, Preschool
  • Female
  • Genes, ras*
  • Humans
  • Leukemia, Myelomonocytic, Juvenile / genetics*
  • Leukemia, Myelomonocytic, Juvenile / pathology
  • Leukocytosis / genetics*
  • Leukocytosis / pathology
  • Male
  • Middle Aged
  • Mutation
  • Young Adult