| Project/Area Number |
09470194
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| Research Category |
Grant-in-Aid for Scientific Research (B).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | The Jikei University School of Medicine |
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Principal Investigator |
NIIMURA Michihito The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 教授 (00010190)
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| Co-Investigator(Kenkyū-buntansha) |
INABA Yoshikata The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (60184727)
SAWADA Shunichi The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 講師 (50187291)
HONDA Mariko The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 講師 (20100919)
OTA Mayumi The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (70246370)
OTA Arihito The Jikei University School of Medicine Department of Dermatology Professor, 医学部, 助手 (20168933)
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| Project Period (FY) |
1997 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥8,200,000 (Direct Cost: ¥8,200,000)
Fiscal Year 2000: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1998: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1997: ¥3,400,000 (Direct Cost: ¥3,400,000)
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| Keywords | neurofibromatosis / van Recklinghausen disease / neurilemmomatosis / nerrofibroma / schwannoma / neurofibromin / merlin / 悪性神経鞘腫瘍 / p53遺伝子 / 樹状細胞 / 融合細胞 / 免疫治療 / NF1プロモーター / 神経線維腫瘍2 / 両側性聴神経腫瘍 / 癌抑制遺伝子 / 神経鞘腫症 / 遺伝子 / カフェ・オ・レ斑 / メラニン / モザイク / 神経線維腫症1(NF1) / 神経線維腫症2(NF2) / phenotype-genotype correlation / MS(Mutagenically-Separated)PCR法 / FISH法 / big-deletion / PTT(Protein Truncation Test)法 |
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| Research Abstract |
We have examined and treated 1640 cases of neurofibromatosis 1 (NF1, von Recklinghausen disease) and 52 cases of neurofibromatosis 2 (NF2) patients. Also there are related groups of patients with conditions which are not neurofibromatosis, such as 54 cases of localized multiple neurofibromas and 103 cases of localized cafe-au-lait spots. Neurofibromatoses are heterogeneous set of conditions having clinical manifestations such as skin, bone and eye disorders. They display wide variability in clinical expressions which make them difficult to classify the disease. NF1 gene was cloned on 17q11.2 in 1990, and the sequence revealed a homology between the NF1 gene product and catalytic domein of the mammmalian GTPase activating protein. 60 exons have been identified in NF1 gene. To investigate the mutation of NF1 gene, the polymerase chain reaction-single strand conformation polymorphism method was applied. Deletions, insertions, translocations and point mutaions were identified, but no hot spots were found. There were 28 cases of segmental neurofibromatosis, 4 children born from these cases have NF1. The most likely explanation for segmental neurofibromatosis is mosaicism for the NF1 gene.
NF2, previously known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder. Acoustic nerve tumors are characteristic, but other cranial nerve tumors are common. They have spinal and paraspinal tumors, bone changes, and tumors such as meningiomas. The skin tumors of the patients with NF2 are neurilemmmomas which are schwannomas, and are not neurofibromas. We have reported cases of neurilemmomatosis as a clinicalentity clearly distinguished from von Recklinghausens disease. In 1993, NF2 gene was cloned, and we found that the neurilemmomatosis gene and NF2 gene are identical.
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