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神经纤维瘤病I型累及骨和淋巴结一例

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摘要 患者男，23岁。自出生40d发现右足畸形及肥大，随着患者成长躯干和四肢逐渐出现多发性小肿块，尤其右下肢生长迅速肥大很快累及整个下肢。近5年右下肢生长肥大加快以致右下肢太重造成患者不能翻身和行走，于2008年11月27日入院治疗。家族史：父亲体健，母亲、姐、弟分别在躯干及面部有大小不等肿物。体检：心肺听诊未见异常，肝脾肋下未扪及，听力粗测正常，无智力障碍。
作者 刘小丽 张晓琴 魏荣 王晨 吕智
机构地区 山西医科大学第二医院病理科 山西医科大学第二医院骨科
出处 《中华病理学杂志》 CAS CSCD 北大核心 2010年第3期195-196,共2页 Chinese Journal of Pathology
关键词 神经纤维瘤病I型 淋巴结 右下肢 心肺听诊 智力障碍 骨 患者 肥大
分类号 R739.4 [医药卫生—肿瘤]
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参考文献9

  • 1Roberts L. Down to the wire for the NF gene. Science, 1990, 249 (4966) :236-238.
  • 2Rasmussen SA, Friedman JM. NF1 gene and neurofibromatosis 1. Am J Epidemiol, 2000, 151 (1) :33-40.
  • 3John AM, Ruggieri M, Femer R, et al. A search for evidence of somatic mutations in the NF1 gene. J Med Genet, 2000, 37(1) : 44-49.
  • 4Lu D, Nounou R, Beran M, et al. The prognostic significance of bone marrow levels of neurofibromatosis-1 protein and ras oncogene mutations in patients with acute myeloid leukemia and myelodysplastic syndrome. Cancer, 2003,97 ( 2 ) :441-449.
  • 5Tong J, Hannan F, Zhu Y, et al. Neurofibromin regulates G protein-stimulated adenylyl cyclase activity. Nat Neurosci, 2002, 5(2) :95-96.
  • 6Kehrer-Sawatzki H, Kluwe L, Flinsterer C, et al. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR- mediated 2-Mb deletion in 17q11. 2. Hum Genet, 2005, 116 (6) :466-475.
  • 7Legius E, Marchuk DA, Collins FS, et al. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet, 1993, 3(2) :122- 126.
  • 8赵霞,周列民,周珏倩,操德智,陈子怡,李伟峰,梁秀龄.雌激素对Ⅰ型神经纤维瘤病发生机制的调控作用[J].中华神经科杂志,2006,39(1):39-43. 被引量：3
  • 9Gutmann DH, Sherman L, Seftor L, et al. Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading. Hum Mol Genet, 1999, 8 ( 2 ) : 267 -275.

二级参考文献14

  • 1Legius E, Marchuk DA, Collins FS, et aL Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumor suppressor gene hypothesis. Nat C, enet, 1993, 3 : 122-126.
  • 2Cunha KS, Barboza EP, Da Fonseca EC. Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1. J Clin Pathol, 2003, 56: 758-763.
  • 3Svenningsen AF, Kanje M. Estrogen and progesterone stimulate Schwann cell proliferation in a sex- and age-dependent manner. J Neurosci Res, 1999, 57: 124-130.
  • 4Jung-Testas I, Schumacher M, Bugnard H, et aL Stimulation of rat Schwann cell proliferation by estradiol: synergism between the estrogen and cAMP. Brain Res Dev Brain Res, 1993, 72 : 282-290.
  • 5Nakao K, Itoh H, Takaya IC Current topics in pheochromocytoma.Biomed Pharmacother, 2000, 54 Suppl 1: S124-S128.
  • 6Gottardis MM, Saceda M, Garcia-Morales P, et al. Regulation of retinoblastoma gene expression in hormone-dependent breast cancer.Endocrinology, 1995, 136: 5659-5665.
  • 7Rinehart CAI Xu LH, Van Le L, et al Diethylstilbestrol-induced immortalization of human endometrial cells: alterations in p53 and estrogen receptor. Mol Carcinog, 1996, 15: 115-123.
  • 8Pethe V, Shekhar PV. Estrogen inducibility of c-Ha-ms transcription in breast cancer cells. Identification of functional estrogen-responsive transcriptional regulatory dements in exon 1/intron 1 of the c-Ha-ras gene. J Biol Chem, 1999, 274: 30969-30978.
  • 9Morin GB. The human telomere terminal transferaze enzyme is a ribonucleoprotein that synthesize TTAGGG repeats. Cell, 1989, 59:521-529.
  • 10Poole JC, Andrews LG, Tollefsbol TO. Activity, function, and gene regulation of the catalytic subunit of telomerase (hTERT). Gene,2001,269 : 1-12.

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中华病理学杂志
2010年 第3期

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