Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
Adolescent
Adult
Alleles
Autoimmune Diseases
/ diagnosis
Autoimmune Lymphoproliferative Syndrome
/ diagnosis
Autoimmunity
/ genetics
Child
Child, Preschool
Combined Modality Therapy
Diagnosis, Differential
Disease Management
Disease Susceptibility
Female
Genetic Predisposition to Disease
Genotype
Humans
Infant
Karyotype
Male
Mutation
Myeloproliferative Disorders
/ diagnosis
Phenotype
Prognosis
Skin
/ immunology
Treatment Outcome
Young Adult
ras Proteins
/ genetics
Autoimmunity
KRAS
NRAS
Ras-associated autoimmune leukoproliferative disorder
malignancy
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
29
04
2020
accepted:
26
08
2020
pubmed:
5
10
2020
medline:
15
1
2022
entrez:
4
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33011939
doi: 10.1007/s10875-020-00883-7
pii: 10.1007/s10875-020-00883-7
doi:
Substances chimiques
ras Proteins
EC 3.6.5.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
51-58Références
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