Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)

We report the case of a 7-year-old girl diagnosed with RALD due to somaticKRAS mutation who progressed to a juvenile myelomonocytic leukemia phenotype and finally evolved into acute myeloid leukemia. The case report prompted a literature review by a search for all RALD cases published in PubMed and Embase. We identified 27 patients with RALD. The male-to-female ratio was 1:1 and median age at disease onset was 2  years (range 3 months–36 years). Sixteen patients (59%) harbored somatic mutations inKRAS and 11 patients (41%) somatic mutations inNRAS. The most common features were splenomegaly (26/27 patients), autoimmune cytopenia (15/16 patients), monocytosis (18/24 patients), pericarditis (6 patients), and skin involvement (4 patients). Two patients went on to develop a hematopoietic malignancy. In summary, the current case documents an additional warning about the long-term risk of malignancy in RALD.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research