Journal of Clinical Pediatrics >
Clinical analysis of 8 children with BRAF gene variation
Received date: 2022-11-22
Online published: 2023-09-05
Objective To investigate the variants and clinical characteristics of BRAF gene. Methods The clinical data and types of gene variation in 8 cases of children with BRAF gene variation were retrospectively analyzed. Results Eight children had BRAF gene variations, four of which were derived from germ cells and the other four from somatic cells. The 4 patients with BRAF gene variations from germ cells all showed clinical features of cardio-facio-cutaneous (CFC) syndrome, which is an extremely rare disease. They all have special facial features, developmental retardation, skin and hair abnormalities, and some children also have epilepsy, heart malformation and other manifestations. They were all new variations in the BRAF gene, but the variation sites were different. Of the 4 children whose BRAF gene variations originated from somatic cells, 2 presented with Langerhans cell histiocytosis (LCH), and the other 2 presented with central nervous system malignant tumors. Conclusions When BRAF gene variation occurs in germ cells, children can develop severe developmental disorders that can present as clinical features of CFC syndrome. When BRAF gene variation occurs in somatic cells, it can cause tumors and LCH, etc.
Key words： BRAF gene; cardio-facio-cutaneous syndrome; tumor
Yuexu OU , Yuanhui DUAN , Jie CAO , Jieling LI . Clinical analysis of 8 children with BRAF gene variation[J]. Journal of Clinical Pediatrics, 2023 , 41(9) : 697 -702 . DOI: 10.12372/jcp.2023.22e1562
| [1] | Ullah R, Yin Q, Snell AH, et al. RAF-MEK-ERK pathway in cancer evolution and treatment[J]. Semin Cancer Biol, 2022, 85: 123-154. |
| [2] | Hussain MR, Baig M, Mohamoud HS, et al. BRAF gene: from human cancers to developmental syndromes[J]. Saudi J Biol Sci, 2015, 22(4): 359-373. |
| [3] | Dard L, Bellance N, Lacombe D, et al. RAS signalling in energy metabolism and rare human diseases[J]. Biochim Biophys Acta Bioenerg, 2018, 1859(9): 845-867. |
| [4] | Meng P, Bedolla RG, Yun H, et al. Contextual role of E2F1 in suppression of melanoma cell motility and invasiveness[J]. Mol Carcinog, 2019, 58(9): 1701-1710. |
| [5] | Cao H, Alrejaye N, Klein OD, et al. A review of craniofacial and dental findings of the RASopathies[J]. Orthod Craniofac Res, 2017, 20 (Suppl 1): 32-38. |
| [6] | Poulikakos PI, Sullivan RJ, Yaeger R, et al. Molecular pathways and mechanisms of BRAF in cancer therapy[J]. Clin Cancer Res, 2022, 28(21): 4618-4628. |
| [7] | Hebron KE, Hernandez ER, Yohe ME, et al. The RASopathies: from pathogenetics to therapeutics[J]. Dis Model Mech, 2022, 15(2): dmm049107. |
| [8] | Rauen KA. The RASopathies[J]. Annu Rev Genom Hum G, 2013, 14(1): 355-369. |
| [9] | Suzuki-Muromoto S, Miyabayashi T, Nagai K, et al. Leucine-485 deletion variant of BARF may exhibit the severe end of the clinical spectrum of CFC syndrome[J]. J Hum Genet, 2019, 64(5): 499-504. |
| [10] | Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines[J]. Pediatrics, 2014, 134(4): e1149-e1162. |
| [11] | 陈柏谕, 尹飞, 陈施梦, 等. BRAF基因突变所致心-面-皮肤综合征1例并文献复习[J]. 中南大学学报(医学版), 2021, 46(4): 432-437. |
| [12] | Jhang WK, Choi JH, Lee BH, et al. Cardiac manifestations and associations with gene mutations in patients diagnosed with RASopathies[J]. Pediatr Cardiol, 2016, 37(8): 1539-1547. |
| [13] | Pierpont EI, Kenney-Jung DL, Shanley R, et al. Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: a multinational cohort study[J]. Genet Med, 2022, 24(7): 1556-1566. |
| [14] | Zenker M, Edouard T, Blair JC, et al. Noonan syndrome: improving recognition and diagnosis[J]. Arch Dis Child, 2022, 107(12): 1073-1078. |
| [15] | Feng S, Han L, Yue M, et al. Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing[J]. Orphanet J Rare Dis, 2021, 16(1): 272. |
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