Orphanet journal of rare diseases · 2025
Clinical features and novel pathogenic variants of patients with Behçet's disease like trisomy 8.
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Ding Xingru, Yang Jinghan, Han Xiao, Shen Yi-Fan, Yang Kangkang, Shangguan Yaoyao, Dong Yiwei, Ye Xiaohua
Аннотация
PURPOSE: Chromosomal abnormalities, such as Trisomy 8 (T8), and genetic mutations may contribute to the unique clinical phenotype of Behçet's Disease (BD). This study aims to characterize the clinical and genetic features of patients presenting with BD-like symptoms associated with T8 (T8-BD).
METHODS: We analyzed a cohort of 8 patients with T8-BD and associated genetic variants, including 1 newly identified case from our center and 7 previously reported in the literature. Genetic sequencing and karyotyping analyses were conducted, with Sanger sequencing used to confirm variants. We assessed clinical phenotypes, genetic backgrounds, treatments, and clinical outcomes.
RESULTS: This study comprised predominantly female (87.5%) and East Asian (87.5%) patients, spanning pediatric to elderly populations, with a high comorbidity prevalence (87.5%), including autoimmune lymphoproliferative syndrome (ALPS), myelodysplastic syndrome (MDS), atypical familial Mediterranean fever (FMF), primary myelofibrosis (PM), polycythemia vera (PV), and Townes-Brocks syndrome (TBS). Uniform presentations included oral aphthosis (100%), intestinal lesions (100%), with most cases exhibiting fever (85.7%), anemia (85.7%), and elevated C-reactive protein (CRP) levels (85.7%). Genetic variants were identified in NRAS, JAK2, MEFV, PTPN11, and SALL1, comprising 5 missense variants and 1 nonsense mutation, including a de novo NRAS mutation newly reported in a pediatric patient. Treatment involved glucocorticoids (GC) combined with immunosuppressants (33.3%), a combination of GC, immunosuppressants, and biologics (50%), and anti-oral aphthosis medications (16.7%), with most patients achieving remission, except for one fatal outcome.
CONCLUSIONS: Patients with T8-BD and genetic mutations exhibit distinct clinical features. Greater clinical awareness of autoinflammatory syndromes, combined with genetic and chromosomal analysis, is recommended in patients with BD-like symptoms who do not fully meet BD diagnostic criteria, especially those presenting with oral ulcers and systemic inflammation. This approach may enhance diagnostic precision and inform tailored treatment strategies.
METHODS: We analyzed a cohort of 8 patients with T8-BD and associated genetic variants, including 1 newly identified case from our center and 7 previously reported in the literature. Genetic sequencing and karyotyping analyses were conducted, with Sanger sequencing used to confirm variants. We assessed clinical phenotypes, genetic backgrounds, treatments, and clinical outcomes.
RESULTS: This study comprised predominantly female (87.5%) and East Asian (87.5%) patients, spanning pediatric to elderly populations, with a high comorbidity prevalence (87.5%), including autoimmune lymphoproliferative syndrome (ALPS), myelodysplastic syndrome (MDS), atypical familial Mediterranean fever (FMF), primary myelofibrosis (PM), polycythemia vera (PV), and Townes-Brocks syndrome (TBS). Uniform presentations included oral aphthosis (100%), intestinal lesions (100%), with most cases exhibiting fever (85.7%), anemia (85.7%), and elevated C-reactive protein (CRP) levels (85.7%). Genetic variants were identified in NRAS, JAK2, MEFV, PTPN11, and SALL1, comprising 5 missense variants and 1 nonsense mutation, including a de novo NRAS mutation newly reported in a pediatric patient. Treatment involved glucocorticoids (GC) combined with immunosuppressants (33.3%), a combination of GC, immunosuppressants, and biologics (50%), and anti-oral aphthosis medications (16.7%), with most patients achieving remission, except for one fatal outcome.
CONCLUSIONS: Patients with T8-BD and genetic mutations exhibit distinct clinical features. Greater clinical awareness of autoinflammatory syndromes, combined with genetic and chromosomal analysis, is recommended in patients with BD-like symptoms who do not fully meet BD diagnostic criteria, especially those presenting with oral ulcers and systemic inflammation. This approach may enhance diagnostic precision and inform tailored treatment strategies.