학술논문

Natural history of Ras‐associated autoimmune leukoproliferative disorder: A 20‐year follow‐up of a NRAS‐mutated patient excluding a malignant progression.
Document Type
Article
Source
British Journal of Haematology. Jan2024, Vol. 204 Issue 1, pe6-e10. 5p.
Subject
*NATURAL history
*AUTOIMMUNE diseases
*PELVIC inflammatory disease
*MONONUCLEAR leukocytes
*CORD blood transplantation
Language
ISSN
0007-1048
Abstract
This article explores the natural history of Ras-associated autoimmune leukoproliferative disorder (RALD), a rare condition caused by mutations in the NRAS or KRAS genes. RALD is characterized by lymphadenopathy, splenomegaly, persistent leucocytosis, and autoimmune symptoms. The article discusses the challenges in diagnosing and monitoring RALD patients, as some may develop juvenile myelomonocytic leukemia (JMML) or acute myeloid leukemia (AML), while others may experience spontaneous improvement. The article presents a case study of a 22-year-old male with RALD, providing a clinical history and a detailed analysis of his immune profile. The study emphasizes the importance of exploring somatic gene variants in patients with specific immunological profiles and suggests that an integrated approach combining clinical parameters, functional assays, and longitudinal assessment of additional mutations may help predict disease progression. The findings contribute to the understanding of RALD and may enhance monitoring and treatment strategies for patients with this rare condition. [Extracted from the article]