제1형 신경섬유종증에 동반된 교모세포종 1예: = A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma

다국어 초록 (Multilingual Abstract)

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.

목차 (Table of Contents)

• 서론
• 증례
• 고찰
• 요약
• References

참고문헌 (Reference)

1 엄기성, "제1형 신경섬유종증에 동반된 청소년기 모양세포성 성상세포종의 악성 전환 1례" 대한소아신경학회 19 (19): 292-297, 2011

2 Lewis RA, "von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata" 91 : 929-935, 1984

3 Fisher MJ, "Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis" 14 : 790-797, 2012

4 Hansen S, "Treatment and survival of glioblastoma patients in Denmark: The Danish Neuro-Oncology Registry 2009-2014" 2018

5 "The Human Gene Mutation Database"

6 Stupp R, "Radiotherapy plus concomitant and adjuvant temozolomide for glioblastoma" 352 : 987-996, 2005

7 Incecik F, "Oncologic manifestations in children with neurofibromatosis type 1 in Turkey" 55 : 266-270, 2013

8 Reilly KM, "Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects" 26 : 109-113, 2000

9 "Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference" 45 : 575-578, 1988

10 Williams VC, "Neurofibromatosis type 1 revisited" 123 : 124-133, 2009

11 Listernick R, "Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study" 125 : 63-66, 1994

12 Shen MH, "Molecular genetics of neurofibromatosis type 1 (NF1)" 33 : 2-17, 1996

13 Sorensen SA, "Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms" 314 : 1010-1015, 1986

14 Schmidt MC, "Impact of genotype and morphology on the prognosis of glioblastoma" 61 : 321-328, 2002

15 Graf N, "Glioblastoma in children with NF1: the need for basic research" 54 : 870-871, 2010

16 Gi Taek Yee, "Glioblastoma in a Patient with Neurofibromatosis Type 1: A Case Report and Review of the Literature" 대한뇌종양학회 2 (2): 36-38, 2014

17 Pant I, "Giant cell glioblastoma in a child with clinical and family history of neurofibromatosis" 12 : 779-782, 2017

18 Friedman JM, "Epidemiology of neurofibromatosis type 1" 89 : 1-6, 1999

19 Huttner AJ, "Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1" 54 : 890-896, 2010

20 Easton DF, "An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes" 53 : 305-313, 1993