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

Neven, Quentin;Boulanger, Cécile;Bruwier, Annelyse;de Ville de Goyet, Maëlle;Brichard, Bénédicte;et.al.
(2021) Journal of clinical immunology — Vol. 41, n° 1, p. 51-58 (2021)

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Abstract
(en) Ras-associated autoimmune leukoproliferative disorder (RALD) is a clinical entity initially identified in patients evaluated for an autoimmune lymphoproliferative syndrome (ALPS)-like phenotype. It remains a matter of debate whether RALD is a chronic and benign lymphoproliferative disorder or a pre-malignant condition. We report the case of a 7-year-old girl diagnosed with RALD due to somatic KRAS 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 in KRAS and 11 patients (41%) somatic mutations in NRAS. 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.
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Neven, Q., Boulanger, C., Bruwier, A., de Ville de Goyet, M., Meyts, I., Moens, L., Van Damme, A., Brichard, B., & et al. (2021). Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD). Journal of clinical immunology, 41(1), 51-58. https://doi.org/10.1007/s10875-020-00883-7 (Original work published 2021)