鍏充簬<\/strong>I<\/strong>鍨嬬缁忕氦缁寸槫鐥咃紙<\/strong>NF1<\/strong>锛夛細<\/strong>NF1鏄敱NF1鍩哄洜鎴栭仐浼犵獊鍙樺紩璧风疮鍙婂绯荤粺鐨勯仐浼犳€х柧鐥�[11]<\/sup>锛屼即闅忓绉嶇棁鐘讹紝鍖呮嫭鍦ㄧ毊鑲ゅ渚ф垨鍐呴儴褰㈡垚绁炵粡绾ょ淮鐦ゅ拰鑹茬礌娌夌潃锛堢墰濂跺挅鍟℃枒锛夌瓑銆傚叾涓紝30-50%鐨凬F1鎮ｈ€呬細浼村彂涓涚姸绁炵粡绾ょ淮鐦�[10],[12]<\/sup>銆備笡鐘剁缁忕氦缁寸槫锛圥N锛夊彲寮曡捣姣佸銆佺柤鐥涖€佽繍鍔ㄥ強鍛煎惛鍔熻兘闅滅銆佽鍔涘彈鎹熶互鍙婅唨鑳辨垨鑲犻亾鍔熻兘闅滅绛�[11],[13],[14],[15]<\/sup>銆備笡鐘剁缁忕氦缁寸槫澶氬彂浜庡嚭鐢熸湡锛屼弗閲嶇▼搴﹀悇涓嶇浉鍚岋紝杈冩櫘閫氫汉缇わ紝棰勬湡瀵垮懡鍙兘浼氬噺灏�20骞�[11],[14],[16],[17]<\/sup>銆�<\/p> \n
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[1] 寮犳姃鎵�.鍎跨缃曡鐥呰瘖鐤椾笌绠＄悊,2021.11:9
<\/sup>[2] Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13:834-43. doi: 10.1016\/S1474-4422(14)70063-8.
<\/sup>[3] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[4] Gross AM, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020 Apr 9<\/span>;382(15):1430-1442. doi: 10.1056\/NEJMoa1912735.
<\/sup>[5] Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016;375:2550-2560. doi: 10.1056\/NEJMoa1605943.
<\/sup>[6] Mayo Clinic. Neurofibromatosis. Available at: https:\/\/www.mayoclinic.org\/diseases-conditions\/neurofibromatosis\/symptoms-causes\/syc-20350490<\/a>. Accessed July 2022<\/span>.
<\/sup>[7] NHS. Neurofibromatosis Type 1, Symptoms. Available at https:\/\/www.nhs.uk\/conditions\/neurofibromatosis-type-1\/symptoms<\/a>. Accessed July 2022<\/span>.
<\/sup>[8] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[9] Evans DGR, Ingham SL. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors. Appl Clin Genet. 2013;6:53-61.
<\/sup>[10] Masocco M et al. Orphanet J Rare Dis. 2011;6:11.
<\/sup>[11] National Institute of Neurological Disorders and Stroke. Neurofibromatosis Fact Sheet. Available at: "What is NF1?" Available at: www.ninds.nih.gov\/disorders\/patient-caregiver-education\/fact-sheets\/neurofibromatosis-fact-sheet<\/a>. Last accessed: July 2022<\/span>.
<\/sup>[12] Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13:834-43. doi: 10.1016\/S1474-4422(14)70063-8.
<\/sup>[13] Gross AM, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020 Apr 9<\/span>;382(15):1430-1442. doi: 10.1056\/NEJMoa1912735.
<\/sup>[14] Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016;375:2550-2560. doi: 10.1056\/NEJMoa1605943.
<\/sup>[15] NHS. Neurofibromatosis Type 1, Symptoms. Available at https:\/\/www.nhs.uk\/conditions\/neurofibromatosis-type-1\/symptoms<\/a>. Accessed July 2022<\/span>.
<\/sup>[16] Evans DGR, Ingham SL. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors. Appl Clin Genet. 2013;6:53-61.
<\/sup>[17] Masocco M et al. Orphanet J Rare Dis. 2011;6:11.
<\/sup>[18] Koselugo (selumetinib) Chinese prescribing information; 2023.<\/sup><\/p> \n