Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2024, Vol. 38 ›› Issue (2): 73-78.doi: 10.6040/j.issn.1673-3770.0.2023.030

• Original Article • Previous Articles     Next Articles

A case report of a new pathogenic gene mutation in neurofibromatosis type I and literature review

ZHANG Jin1, QI Zhiling2, WANG Shaohua3, ZHAO Yufeng3, MA Xu1, WU Yungang3   

  1. 1. School of Clinical Medicine, Jining Medical University, Jining 272067, Shandong, China2. Intensive Care Vnit, Affiliated Hospital of Jining Medical University, Jining 272029, Shandong, China3. Department of Otorhinolaryngology & Head and Neck Surgery, Affiliated Hospital of Jining Medical University, Jining 272029, Shandong, China
  • Online:2024-03-20 Published:2024-03-29

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Abstract: Objective To summarize the clinical data of a patient with neurofibromatosis type Ⅰ(NFⅠ)and a new pathogenic gene mutation, so as to improve the understanding of the diagnosis and treatment of NFⅠ. Methods One case of a 15-year-old patient with NFⅠ was analyzed retrospectively and the relevant literature was summarized. Results NFⅠ patient had bilateral ear swelling, scattered skin plaques of variable size throughout the body, soft tissue swelling in the bilateral maxillofacial, cervical, and subchin areas, and scoliosis, his father had a similar history. Genetic testing revealed one new mutant locus. The patient recovered well after ear mass resection. Conclusion For NFⅠ patients, it is necessary to trace their family history, conduct detailed consultation and general physical examination and check whether patients are complicated with malignant tumors. At the same time, the mental health of patients should not be ignored. Although there is no cure for NFⅠ, surgery may be recommended for cases with significant symptoms that affect the patient's life as well as for malignant changes. For NFⅠ patients, we should follow up regularly, care about their mental health, and conduct genetic counseling and education.

Key words: Neurofibromatosis type Ⅰ, Auricle, Gene detection, Gene mutation, Adolescents

CLC Number: 

  • R739.6
[1] 李玲玲, 姜彦, 陈敏, 等. 鼻中隔神经纤维瘤一例报告[J]. 山东大学耳鼻喉眼学报, 2018, 32(6): 112-113.doi: 10.6040/j.issn.1673-3770.0.2018.104 LI Lingling, JIANG Yan, CHEN Min, et al. One case report of nasal septum neurofibroma[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(6): 112-113.doi: 10.6040/j.issn.1673-3770.0.2018.104
[2] 田敏,曹丽丽,宋承远. 神经纤维瘤病Ⅰ型:新发突变1例并文献复习[J]. 山东大学学报(医学版), 2022, 60(4): 128-132. doi: 10.6040/j.issn. 1671-7554.0.2021.1011 TIAN Min, CAO Lili, SONG Chengyuan. Neurofibromatosis type Ⅰ: a case of novel mutation and review of literature[J]. Journal of Shandong University(Health Sciences), 2022, 60(4): 128-132. doi: 10.6040/j.issn. 1671-7554.0.2021.1011
[3] Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis[J]. Int J Mol Sci, 2021, 22(11): 5850. doi:10.3390/ijms22115850
[4] 朱倍瑶, 魏澄江, 王薇, 等. 皮肤型神经纤维瘤的治疗方案及研究进展[J]. 中国修复重建外科杂志, 2022, 36(9): 1064-1071 ZHU Beiyao, WEI Chengjiang, WANG Wei, et al. Treatment and progress of cutaneous neurofibroma[J]. Chinese Journal of Reparative and Reconstructive Surgery, 2022, 36(9): 1064-1071
[5] Bayat M, Bayat A. Neurological manifestations of neurofibromatosis: a review[J].Neurol Sci, 2020, 41(10): 2685-2690. doi:10.1007/s10072-020-04400-x
[6] Karaconji T, Whist E, Jamieson RV, et al. Neurofibromatosis type 1: review and update on emerging therapies[J]. Asia Pac J Ophthalmol(Phila), 2019, 8(1): 62-72. doi:10.22608/apo.2018182
[7] 马姣, 陈钰波, 弓毅谷, 等. 神经纤维瘤1型[J]. 临床皮肤科杂志, 2022, 51(12): 714-717. doi:10.16761/j.cnki.1000-4963.2022.12.004 MA Jiao, CHEN Yubo, GONG Yigu, et al. Neurofibroma type 1[J]. Journal of Clinical Dermatology, 2022, 51(12): 714-717. doi:10.16761/j.cnki.1000-4963.2022.12.004
[8] Ferner RE, Bakker A, Elgersma Y, et al. From process to progress-2017 international conference on neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis[J]. Am J Med Genet A, 2019, 179(6): 1098-1106. doi:10.1002/ajmg.a.61112
[9] Xie R, Fu KI, Chen SM, et al. Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: a case report and review of the literature[J]. World J Gastroenterol, 2018, 24(33): 3806-3812. doi:10.3748/wjg.v24.i33.3806
[10] Ahlawat S, Blakeley JO, Langmead S, et al. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis[J].Skeletal Radiol, 2020, 49(2): 199-219. doi:10.1007/s00256-019-03290-1
[11] Martin E, Flucke U, Coert J, et al. Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease[J]. Child's Nerv Syst, 2020, 36: 2453-2462. doi:10.1007/s00381-020-04687-3
[12] Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966[J]. Orphanet J Rare Dis, 2020, 15(1): 37. doi:10.1186/s13023-020-1310-3
[13] 吕丹, 李明霞, 马兰枝, 等. 累及纵膈的头颈部丛状Ⅰ型神经纤维瘤病两例[J].山东大学耳鼻喉眼学报, 2018, 32(1): 82-86. doi: 10.6040/j.issn.1673-3770.0.2017.294 LÜ Dan, LI Mingxia, MA Lanzhi, et al. Neurofibromatosis of the head and neck involving the mediastinum: two cases report[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2018, 32(1): 82-86. doi: 10.6040/j.issn.1673-3770.0.2017.294
[14] 王维, 罗聪. 1型神经纤维瘤病性脊柱侧弯的诊疗现状[J]. 医学信息, 2020, 33(9): 39-43. doi: 10.3969/j.issn.1006-1959.2020.09.013 WANG Wei, LUO Cong. The diagnosis and treatment of scoliosis of neurofibromatosis type 1[J]. Medical Information, 2020, 33(9): 39-43. doi: 10.3969/j.issn.1006-1959.2020.09.013
[15] Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis[J]. Neuro Oncol, 2016, 18(5): 624-638. doi:10.1093/neuonc/nov200
[16] Zheng Q, Xia B, Zhao X, et al. Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature[J]. BMC Pediatr. 2023, 23(1): 259. doi:10.1186/s12887-023-04077-z
[17] Mulvihill JJ, Parry DM, Sherman JL, et al. NIH conference. Neurofibromatosis 1(Recklinghausen disease)and neurofibromatosis 2(bilateral acoustic neurofibromatosis). An update[J]. Ann Intern Med. 1990, 113(1): 39-52. doi: 10.7326/0003-4819-113-1-39
[18] Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation[J]. Genet Med, 2021, 23(8): 1506-1513. doi:10.1038/s41436-021-01170-5
[19] 王建才, 刘晓雁, 胡瑾, 等. 新发1型神经纤维瘤病3例致病基因的检测[J]. 中国皮肤性病学杂志, 2022, 36(1): 27-31. doi:10.13735/j.cjdv.1001-7089.202103074 WANG Jiancai, LIU Xiaoyan, HU Jin, et al. Detection of pathogenic genes in 3 cases of new neurofibromatosis type 1[J]. The Chinese Journal of Dermatovenereology, 2022, 36(1): 27-31. doi:10.13735/j.cjdv.1001-7089.202103074
[20] Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1[J]. Med Clin North Am. 2019, 103(6): 1035-1054. doi: 10.1016/j.mcna.2019.07.004
[21] 张剑, 张金明, 葛鋆, 等. 1型神经纤维瘤病的整形外科治疗决策[J]. 中华整形外科杂志, 2021(8): 840-846. doi: 10.3760/cma.j.cn114453-20210603-00244 ZHANG Jian, ZHANG Jinming, GE Yun, et al. Decision-making of orthopedic treatment in neurofibromatosis type 1[J]. Chinese Journal of Plastic Surgery, 2021(8): 840-846. doi: 10.3760/cma.j.cn114453-20210603-00244
[22] 中国Ⅰ型神经纤维瘤病多中心治疗协作组, 全国整形外科多中心研究平台. Ⅰ型神经纤维瘤病临床诊疗专家共识(2021版)[J]. 中国修复重建外科杂志, 2021, 35(11): 1384-1395. doi:10.7507/1002-1892.202108065
[23] Jakacki RI, Dombi E, Potter DM, et al. Phase I trial of pegylated interferon-alpha-2b in young patients with plexiform neurofibromas[J]. Neurology, 2011, 76(3): 265-272. doi:10.1212/WNL.0b013e318207b031
[24] Jakacki RI, Dombi E, Steinberg SM, et al. Phase II trial of pegylated interferon Alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas[J]. Neuro Oncol, 2017, 19(2): 289-297. doi:10.1093/neuonc/now158
[25] Wei J, Freytag M, Schober Y, et al. Nilotinib is more potent than imatinib for treating plexiform neurofibroma in vitro and in vivo[J]. PLoS One, 2014, 9(10): e107760. doi:10.1371/journal.pone.0107760
[26] Widemann BC, Babovic-Vuksanovic D, Dombi E, et al. Phase Ⅱ trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas[J]. Pediatr Blood Cancer, 2014, 61(9): 1598-1602. doi:10.1002/pbc.25041
[27] Weiss B, Widemann BC, Wolters P, et al. Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study[J]. Pediatr Blood Cancer, 2014, 61(6): 982-986. doi:10.1002/pbc.24873
[28] Kim A, Dombi E, Tepas K, et al. Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas[J]. Pediatr Blood Cancer, 2013, 60(3): 396-401. doi:10.1002/pbc.24281
[29] Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas[J]. Neuro-oncology, 2014, 16(5): 707-718. doi:10.1093/neuonc/nou004
[30] 任捷艺, 顾熠辉, 李青峰, 等. Ⅰ型神经纤维瘤病相关丛状神经纤维瘤的药物临床试验进展[J]. 中华整形外科杂志, 2020, 36(1): 83-87. doi: 10.3760/cma.j.issn.1009-4598.2020.01.019 REN Jieyi, GU Yihui, LI Qingfeng, et al. Advances in the drug clinical trials of neurofibromatosis type Ⅰ-associated plexiform neurofibromas[J]. Chinese Journal of Plastic Surgery, 2020, 36(1): 83-87. doi: 10.3760/cma.j.issn.1009-4598.2020.01.019
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