WordNet

write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities (同)von Recklinghausen''s disease
writing done with a typewriter (同)typewriting

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〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/05/18 21:48:17」(JST)

Neurofibromatosis type II is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the "Merlin" gene,^[1] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.

Cause

NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.

NF II is a microdeletion syndrome involving mutations in the NF2 gene located at 22q12.2 of chromosome 22.^[2] It is an inheritable disorder with an autosomal dominant mode of transmission. Incidence of the condition is about 1 in 60,000.^[3] There is a broad clinical spectrum known, but all patients checked have been found to have some mutation of the same gene on chromosome 22. Through statistics, it is suspected that one-half of cases are inherited, and one-half are the result of new, de novo mutations.

Pathogenesis

NF II is caused by a defect in the gene that normally gives rise to a product called Merlin or Schwannomin, located on chromosome 22 band q11-13.1. This peptide is thought to have a tumor-suppressive function. In a normal cell, the concentrations of active (dephosphorylated) merlin are controlled by processes such as cell adhesion (which would indicate the need to restrain cell division). It is known that Merlin's deficiency can result in unmediated progression through the cell cycle due to the lack of contact-mediated tumour suppression, sufficient to result in the tumors characteristic of Neurofibromatosis type II. Mutations of NF II is presumed to result in either a failure to synthesize Merlin or the production of a defective peptide that lacks the normal tumor-suppressive effect. The Schwannomin-peptide consists of 595 amino acids. Comparison of Schwannomin with other proteins shows similarities to proteins that connect the cytoskeleton to the cell membrane. Mutations in the Schwannomin-gene are thought to alter the movement and shape of affected cells with loss of contact inhibition. Ependymomas are tumors arising from the ependyma, an epithelium-like tissue of the central nervous system. In patients with NF2 and ependymomas, the tumor suppressant function of Merlin may be compromised. Loss of function mutations occurring in chromosome 22q, where Merlin proteins are coded, can promote tumorigenesis, or the creation of new tumorous cells.^[4] Deletions, too, in the NH2-terminal domain of merlin proteins have been associated with early tumor onset and poor prognosis in affected patients.^[4]

Pathology

Schwannoma of the N. Vestibularis

Meningeomas in a person with NFII

The so-called acoustic neuroma of NF II is in fact a schwannoma of the nervus vestibularis, or vestibular schwannoma. The misnomer of acoustic neuroma is still often used. The vestibular schwannomas grow slowly at the inner entrance of the internal auditory meatus (meatus acousticus internus). They derive from the nerve sheaths of the upper part of the nervus vestibularis in the region between the central and peripheral myelin (Obersteiner-Redlich-Zone) within the area of the porus acousticus, 1 cm from the brainstem.

Genotype-phenotype-correlation

Many people with NF II were included in studies that were designed to compare disease type and progression with exact determination of the associated mutation. The goal of such comparisons of genotype and phenotype is to determine whether specific mutations cause respective combinations of symptoms. This would be extremely valuable for the prediction of disease progression and the planning of therapy starting at a young age. The results of such studies are the following:

In most cases the mutation in the NF II gene causes shortened peptides.
There are no mutational hot-spots.
Patients with frameshift mutations or nonsense mutations suffer poor prognosis.
Patients with missense mutations have a better prognosis.
In cases with mutations in the splice-acceptor-region, there is no good correlation to determine.
Point mutations may have only minor effects.
Cases are published^{[citation needed]} in which exactly the same mutation is associated with clearly different outcome.

These results suggest that other factors (environment, other mutations) will probably determine the clinical outcome.

Diagnosis

NF-2 Locus

Prenatal

Bilateral vestibular schwannomas are diagnostic of NF2.^[5]

NF II can be diagnosed with 65% accuracy prenatally with chorionic villus sampling or amniocentesis.^[6]

Postnatal

Ferner et al.^[7] give three sets of diagnostic criteria for NF2:

Bilateral vestibular schwannoma (VS) or family history of NF2 plus Unilateral VS or any two of: meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
Unilateral VS plus any two of meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities
Two or more meningioma plus unilateral VS or any two of glioma, schwannoma and cataract.

Another set of diagnostic criteria is the following:

Detection of bilateral acoustic neuroma by imaging-procedures
First degree relative with NF II and the occurrence of neurofibroma, meningiomas, glioma, or Schwannoma
First degree relative with NF II and the occurrence of juvenile posterior subcapsular cataract.

The criteria have varied over time.^[8]

Treatment

Early diagnosis allows better planning of therapy in young patients with NF II. In many cases, the hearing loss is present for 10 years before the correct diagnosis is established. Early in the condition, surgery for an acoustic neurinoma can protect facial nerve function in many patients. In selected cases of patients with very small tumors and good bilateral hearing, surgery may offer the possibility of long-term hearing preservation.

Patients with the Wishard phenotype suffer multiple recurrences of the tumour after surgical treatment. In the case of facial nerve palsy, the muscles of the eyelids can lose their mobility, leading to conjunctivitis and corneal injury. "Lidloading" (implantation of small magnets, gold weights, or springs in the lid) can help prevent these complications. Other means of preserving corneal health include tarsorrhaphy, where the eyelids are partially sewn together to narrow the opening of the eye, or the use of punctal plugs, which block the duct that drains tears from the conjunctival sac. All these techniques conserve moisture from the lacrymal glands, which lubricates the cornea and prevents injury. Most patients with NF II develop cataracts, which often require replacement of the lens. Children of affected parents should have a specialist examination every year to detect developing tumors. Learning of sign language is one means of preparation for those that will most probably suffer complete hearing loss.

Surgery

There are several different surgical techniques for the removal of acoustic neuroma.^[9] The choice of approach is determined by size of the tumour, hearing capability, and general clinical condition of the patient.

The retrosigmoid approach offers some opportunity for the retention of hearing.
The translabyrinthine approach will sacrifice hearing on that side, but will usually spare the facial nerve. Post-operative cerebrospinal fluid leaks are more common.
The middle fossa approach is preferred for small tumours, and offers the highest probability of retention of hearing and vestibular function.
Less invasive endoscopic techniques have been done outside of the United States for some time. Recovery times are reported to be faster. However, this technique is not yet mainstream among surgeons in the US.

Larger tumors can be treated by either the translabyrinthine approach or the retrosigmoid approach, depending upon the experience of the surgical team. With large tumors, the chance of hearing preservation is small with any approach. When hearing is already poor, the translabyrinthine approach may be used for even small tumors. Small, lateralized tumours in patients with good hearing should have the middle fossa approach. When the location of the tumour is more medial a retrosigmoid approach may be better.

Auditory canal decompression is another surgical technique that can prolong usable hearing when a vestibular schwannoma has grown too large to remove without damage to the cochlear nerve. In the IAC (internal auditory canal) decompression, a middle fossa approach is employed to expose the bony roof of the IAC without any attempt to remove the tumor. The bone overlying the acoustic nerve is removed, allowing the tumour to expand upward into the middle cranial fossa. In this way, pressure on the cochlear nerve is relieved, reducing the risk of further hearing loss from direct compression or obstruction of vascular supply to the nerve.

Radiosurgery is a conservative alternative to cranial base or other intracranial surgery. With conformal radiosurgical techniques, therapeutic radiation focused on the tumour, sparing exposure to surrounding normal tissues. Although radiosurgery can seldom completely destroy a tumor, it can often arrest its growth or reduce its size. While radiation is less immediately damaging than conventional surgery, it incurs a higher risk of subsequent malignant change in the irradiated tissues, and this risk in higher in NF2 than in sporadic (non-NF2) lesions.

Systemic medical treatment

A 2009 clinical trial at Massachusetts General Hospital used the cancer drug Bevacizumab (commercial name: Avastin) to treat 10 patients with neurofibromatosis type II. The result was published in The New England Journal of Medicine. Of the ten patients treated with bevacizumab, tumours shrank in 9 of them, with the median best response rate of 26%. Hearing improved in some of the patients, but improvements were not strongly correlated with tumour shrinkage. Bevacizumab works by cutting the blood supply to the tumours and thus depriving them of their growth vector. Side effects during the study included alanine aminotransferase, proteinuria, and hypertension (elevated blood pressure) among others.^[10] A separate trial, published in The Neuro-oncology Journal, show 40% tumour reduction in the two patients with NF2, along with significant hearing improvement.^[11]

Overall the researchers believed that bevacizumab showed clinically significant effects on NF-2 patients. However, more research is needed before the full effects of bevacizumab can be established in NF-2 patients.

Hearing loss

Because hearing loss in those with NF-2 almost always occurs after acquisition of verbal language skills, patients do not always integrate well into the Deaf culture and are more likely to resort to auditory assistive technology. The most sophisticated of these devices is the cochlear implant, which can sometimes restore a high level of auditory function even when natural hearing is totally lost. However, the amount of destruction to the cochlear nerve caused by the typical NF2 schwannoma often precludes the use of such an implant. In these cases, an auditory brainstem implant (ABI) can restore a primitive level of hearing, which, when supplemented by lip reading, can restore a functional understanding of spoken language.

Prognosis

The clinical spectrum of the condition is broad. In other words, people with NF II may develop a wide range of distinct problems.

Acoustic nerve: 90% of the patients show bilateral acoustic schwannomas on magnetic resonance imaging (MRI).
Other cranial nerves and meninges: About 50% of patients develop tumours in other cranial nerves or meningiomas.
Spinal cord: About 50% of the patients develop spinal lesions. Only 40% of the spinal lesions are symptomatic. The spinal tumours in NF II are separated in two groups. Intramedullary lesions are located within the spinal tissue and usually belong to the so-called spinal astrocytomas or ependymomas. The extramedullary lesions are located within the small space between the surface of the spinal cord and the bony wall of the spinal canal. These tumours belong to the schwannomas and meningiomas.
Skin: If children show neurofibromas, a diagnostic procedure should be performed to decide which form of neurofibromatosis causes the alterations.
Eyes: Studies on patients with NF II show that more than 90% of the affected persons suffer eye lesions. The most common alteration in NF II is the juvenile subcapsular cataract (opacity of the lens) in young people.

"Presenting symptoms" (initial concern that brings a patient to a doctor) of a lesion of the nervus vestibulocochlearis due to a tumour in the region of the cerebello-pontine angle are the following: hearing loss (98%), tinnitus (70%), dysequilibrium (67%), headache (32%), facial numbness and weakness (29% and 10% respectively).

"Clinical signs" (alterations that are not regarded by the patient and that can be detected by the doctor in a clinical examination) of the lesion in discussion are: abnormal corneal reflex (33%), nystagmus (26%), facial hypesthesia (26%).

Evaluation (study of the patient with technical methods) shows the enlargement of the porus acousticus internus in the CT scan, enhancing tumours in the region of the cerebello-pontine angle in gadolinium-enhanced MRI scans, hearing loss in audiometric studies and perhaps pathological findings in electronystagmography. Some times there are elevated levels of protein in liquor study.

In NF II, acoustic neuromas usually affect young people, whereas in sporadic forms of acoustic neuromas, the appearance of the tumour is limited to the elderly.

There are two forms of the NF II:^[12]

The Wishart-Phenotype is characterized by multiple cerebral and spinal lesions in patients younger than 20 years and with rapid progression of the tumours.
Patients that develop single central tumours with slow progression after age of 20 are thought to have the Feiling-Gardner-Phenotype.

References

^ Striedinger K, VandenBerg SR, Baia GS, McDermott MW, Gutmann DH, Lal A (November 2008). "The neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP". Neoplasia. 10 (11): 1204–12. PMC 2570596 . PMID 18953429.
^ Rouleau, GA; Merel, P; Lutchman, M; Sanson, M; Zucman, J; Marineau, C; Hoang-Xuan, K; Demczuk, S; Desmaze, C; Plougastel, B (10 June 1993). "Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.". Nature. 363 (6429): 515–21. doi:10.1038/363515a0. PMID 8379998.
^ Evans DG (2009). "Neurofibromatosis type 2 (NF2): a clinical and molecular review". Orphanet J Rare Dis. 4: 16. doi:10.1186/1750-1172-4-16. PMC 2708144 . PMID 19545378.
^ ^a ^b Stamenkovic, I; Yu, Q (2010). "Merlin, a "magic" linker between extracellular cues and intracellular signaling pathways that regulate cell motility, proliferation, and survival". Current protein & peptide science. 11 (6): 471–84. PMC 2946555 . PMID 20491622.
^ Christopher Gillberg (16 October 2003). Clinical Child Neuropsychiatry. Cambridge University Press. pp. 231–. ISBN 978-0-521-54335-4. Retrieved 20 December 2010.
^ "Are there any prenatal tests for the neurofibromatoses?"
^ Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.
^ "Neurofibromatosis Type 2: eMedicine Radiology". Retrieved 2010-12-20.
^ Jean Régis; Pierre-Hugues Roche (2008). Modern Management of Acoustic Neuroma. Karger Publishers. pp. 191–. ISBN 978-3-8055-8370-1. Retrieved 20 December 2010.
^ http://content.nejm.org/cgi/content/full/NEJMoa0902579v1
^ Mautner VF, Nguyen R, Kutta H, et al. (January 2010). "Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2". Neuro-oncology. 12 (1): 14–8. doi:10.1093/neuonc/nop010. PMC 2940556 . PMID 20150363.
^ Walter J, Kuhn SA, Brodhun M, Reichart R, Kalff R (June 2009). "Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2". Clin Neurol Neurosurg. 111 (5): 454–9. doi:10.1016/j.clineuro.2008.11.018. PMID 19249154.

External links

NF2 Information Services
GeneReview/NCBI/NIH/UW entry on Neurofibromatosis 2

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 神経線維腫症2型 neurofibromatosis type 2
2. 神経線維腫症I型（NF1）：病因、臨床的特徴、および診断 neurofibromatosis type 1 nf1 pathogenesis clinical features and diagnosis
3. シュワノマトーシス schwannomatosis
4. 神経線維腫症I型（NF1）：マネージメントおよび予後 neurofibromatosis type 1 nf1 management and prognosis
5. 硬膜内神経鞘腫 intradural nerve sheath tumors

English Journal

Factors influencing the growth rate of vestibular schwannoma in patients with neurofibromatosis type 2.

Li H1,2, Hao SY2, Wang L2, Li D2, Wu Z2, Zhang LW2, Zhang JT3.
Acta neurochirurgica.Acta Neurochir (Wien).2015 Nov;157(11):1983-90. doi: 10.1007/s00701-015-2542-1. Epub 2015 Aug 19.
BACKGROUND: Neurofibromatosis type 2 (NF2) is a devastating disease with no well-accepted management guidelines. Better understanding of the disease process provides the basis for how or when to initiate treatment. Only few studies have addressed the factors influencing the growth rate of NF2-relate
PMID 26287269

Progress of hearing loss in neurofibromatosis type 2: implications for future management.

Kontorinis G1,2, Nichani J3, Freeman SR3, Rutherford SA4, Mills S5, King AT4, Mawman D3, Huson S6, O'Driscoll M3, Gareth Evans D6, Lloyd SK3,7.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery.Eur Arch Otorhinolaryngol.2015 Nov;272(11):3143-50. doi: 10.1007/s00405-014-3317-7. Epub 2014 Oct 8.
The objective of this study was to describe changes in hearing over time in patients with neurofibromatosis type 2 (NF2) treated conservatively. A retrospective case review was conducted in a tertiary referral centre. Pure tone audiometry, speech discrimination scores, serviceable hearing (American
PMID 25294053

Clinical response associated with radiographic regression of a cervicomedullary ependymoma in a NF2 patient treated by bevacizumab.

Essayed WI1,2, Bernard A3, Kalamarides M4,5.
Journal of neuro-oncology.J Neurooncol.2015 Nov;125(2):445-6. doi: 10.1007/s11060-015-1925-8. Epub 2015 Sep 4.
PMID 26337624

Japanese Journal

体幹の多発神経線維腫を伴う副腎褐色細胞腫の1例

得居範子,岡本哲平,今西賢悟,杉山尚樹,鈴木裕一朗,石村大史,畠山真吾,工藤茂将,米山高弘,古家琢也,神村典孝,大山力
泌尿器科紀要 58(1), 17-19, 2012-01
… We report a case of adrenal pheochromocytoma in a patient with neurofibromatosis type 1 (NF1). … Laparoscopic surgery may be a good option for NF1 patients with pheochromocytoma, especially those who had multiple neurofibromatosis on the trunk. …
NAID 120003796791

腹腔鏡下に切除した神経線維腫症1型に合併した直腸カルチノイドの1例

山下公大,中村哲,今西達也,角泰雄,鈴木知志,榎木英介,黒田大介
日本臨床外科学会雑誌 = The journal of the Japan Surgical Association 72(4), 950-954, 2011-04-25
NAID 10029098609

Related Pictures

★リンクテーブル★

リンク元	「癌」「神経皮膚症候群」「神経線維腫症2型」「常染色体優性遺伝病」「acoustic schwannoma」
関連記事	「type」「typed」「typing」「neurofibromatosis」

「癌」

Neurofibromatosis type II
Synonyms	multiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome)
	Micrograph of a schwannoma, a tumor seen in neurofibromatosis type II. HPS stain.
Classification and external resources
Specialty	medical genetics
ICD-10	D33, Q85.0 (ILDS Q85.020)
ICD-9-CM	237.72
OMIM	101000
DiseasesDB	8960
MedlinePlus	000795
eMedicine	neuro/496 radio/475
MeSH	D016518
GeneReviews	Neurofibromatosis 2;
	[edit on Wikidata]

　　[★]

英: cancer
関: 悪性腫瘍

種類

癌腫(carcinoma):上皮性
肉腫(sarcoma):間葉系
carcinoma：腺癌(adenocarcinma)、扁平上皮癌(squamous cell carcinoma)、移行上皮癌(transitional cell carcinoma)
sarcoma：骨肉腫、横紋筋肉腫、平滑筋肉腫、脂肪肉腫、線維肉腫

Neoplasm	Causes	Effect
Small cell lung carcinoma	ACTH or ACTH-like peptide	Cushing’s syndrome
Small cell lung carcinoma and intracranial neoplasms	ADH	SIADH
Squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis (lysed bone)	PTH-related peptide, TGF-β, TNF-α, IL-1	Hypercalcemia
Renal cell carcinoma, hemangioblastoma	Erythropoietin	Polycythemia
Thymoma, small cell lung carcinoma	Antibodies against presynaptic Ca2+ channels at neuromuscular junction	Lambert-Eaton syndrome (muscle weakness)
Leukemias and lymphomas	Hyperuricemia due to excess nucleic acid turnover (i.e., cytotoxic therapy)	Gout, urate nephropathy

最新癌統計

http://ganjoho.ncc.go.jp/public/statistics/pub/statistics01.html

●2005年の死亡数が多い部位は順に
	1位	2位	3位	4位	5位
男性	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は4位
女性	胃	肺	結腸	肝臓	乳房	結腸と直腸を合わせた大腸は1位
男女計	肺	胃	肝臓	結腸	膵臓	結腸と直腸を合わせた大腸は3位

●2001年の罹患数が多い部位は順に
	1位	2位	3位	4位	5位
男性	胃	肺	結腸	肝臓	前立腺	結腸と直腸を合わせた大腸は2位
女性	乳房*1	胃	結腸	子宮*1	肺	結腸と直腸を合わせた大腸は1位
男女計	胃	肺	結腸	乳房*1	肝臓	結腸と直腸を合わせた大腸は2位
*1上皮内がんを含む。

癌の素因となる遺伝子

HIM.494

Table 79-1 Cancer Predisposition Syndromes and Associated Genes
Syndrome	Gene	Chromosome	Inheritance	Tumors
ataxia telangiectasia	ATM	11q22-q23	AR	breast cancer
autoimmune lymphoproliferative syndrome	FAS	10q24	AD	lymphomas
autoimmune lymphoproliferative syndrome	FASL	1q23		lymphomas
Bloom syndrome	BLM	15q26.1	AR	cancer of all types
Cowden syndrome	PTEN	10q23	AD	breast, thyroid
familial adenomatous polyposis	APC	5q21	AD	intestinal adenoma, colorectal cancer
familial melanoma	p16INK4	9p21	AD	melanoma, pancreatic cancer
familial Wilms tumor	WT1	11p13	AD	pediatric kidney cancer
hereditary breast/ovarian cancer	BRCA1	17q21	AD	breast, ovarian, colon, prostate
hereditary breast/ovarian cancer	BRCA2	13q12.3		breast, ovarian, colon, prostate
hereditary diffuse gastric cancer	CDH1	16q22	AD	stomach cancers
hereditary multiple exostoses	EXT1	8q24	AD	exostoses, chondrosarcoma
hereditary multiple exostoses	EXT2	11p11-12		exostoses, chondrosarcoma
hereditary prostate cancer	HPC1	1q24-25	AD	prostate carcinoma
hereditary retinoblastoma	RB1	13q14.2	AD	retinoblastoma, osteosarcoma
hereditary nonpolyposis colon cancer (HNPCC)	MSH2	2p16	AD	colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
	MLH1	3p21.3
	MSH6	2p16
	PMS2	7p22
hereditary papillary renal carcinoma	MET	7q31	AD	papillary renal tumor
juvenile polyposis	SMAD4	18q21	AD	gastrointestinal, pancreatic cancers
Li-Fraumeni	TP53	17p13.1	AD	sarcoma, breast cancer
multiple endocrine neoplasia type 1	MEN1	11q13	AD	parathyroid, endocrine, pancreas, and pituitary
multiple endocrine neoplasia type 2a	RET	10q11.2	AD	medullary thyroid carcinoma, pheochromocytoma
neurofibromatosis type 1	NF1	17q11.2	AD	neurofibroma, neurofibrosarcoma, brain tumor
neurofibromatosis type 2	NF2	22q12.2	AD	vestibular schwannoma, meningioma, spine
nevoid basal cell carcinoma syndrome (Gorlin's syndrome)	PTCH	9q22.3	AD	basal cell carcinoma, medulloblastoma, jaw cysts
tuberous sclerosis	TSC1	9q34	AD	angiofibroma, renal angiomyolipoma
tuberous sclerosis	TSC2	16p13.3		angiofibroma, renal angiomyolipoma
von Hippel–Lindau	VHL	3p25-26	AD	kidney, cerebellum, pheochromocytoma

癌遺伝子、癌抑制遺伝子

癌の危険因子

生活習慣病#生活習慣病などのリスクファクターを改変

疾患		危険因子	防御因子
悪性腫瘍	胃癌	塩辛い食品、喫煙、くん製製品、ニトロソアミン土壌、腸上皮化生、Helicobacter pyroli	ビタミンC、野菜、果実
	食道癌	喫煙、飲酒、熱い飲食物	野菜、果実
	結腸癌	高脂肪食、肉食、低い身体活動、腸内細菌叢の変化、遺伝(家族性大腸腺腫症)
	肝癌	HBVキャリア・HCVキャリア、アフラトキシン、住血吸虫、飲酒
	肺癌	喫煙(特に扁平上皮癌)、大気汚染、職業的暴露(石綿(扁平上皮癌、悪性中皮腫)、クロム)	野菜、果実
	膵癌	高脂肪食、喫煙
	口腔癌	喫煙(口唇・舌-パイプ)、ビンロウ樹の実(口腔、舌)、飲酒
	咽頭癌	EBウイルス(上咽頭癌)、飲酒
	喉頭癌	喫煙、男性、アルコール
	乳癌	高年初産、乳癌の家族歴、肥満、未婚で妊娠回数少ない、無授乳、脂肪の過剰摂取、低年齢初経、高年齢閉経	母乳授乳
	子宮頚癌	初交年齢若い、早婚、多産、性交回数が多い(売春)、貧困、不潔]、HSV-2、HPV、流産、人工妊娠中絶回数が多い
	子宮体癌	肥満、糖尿病、ピル、エストロゲン常用、未婚、妊娠回数少ない、乳癌後のタモキシフエン内服
	膀胱癌	喫煙、鎮痛剤乱用、ビルハルツ住血吸虫、サッカリン、防腐剤
	皮膚癌	日光(紫外線)、ヒ素(Bowen病)
	白血病	放射線、ベンゼン、地域集積性(ATL)、ダウン症(小児白血病)
	骨腫瘍	電離放射線
	甲状腺癌	ヨード欠乏または過剰

「神経皮膚症候群」

　　[★]

英: neurocutaneous syndrome、neurocutaneous disorder
関: 母斑症 phakomatosis

外胚葉異常により皮膚母斑や神経腫瘍を生じる先天性疾患

神経線維腫症1型, neurofibromatosis type 1, NF1, フォン・レックリングハウゼン病 von Recklinghausen disease：NF1の変異による常染色体優性遺伝疾患で多発性のカフェオレ斑、神経線維腫が特徴的。皮膚症状(カフェオレ斑、神経線維腫、黄色腫、貧血母斑、母斑性黄色内皮腫)、眼症状(リッシュ結節)

神経線維腫症2型, neurofibromatosis type 2, NF2
結節性硬化症, tuberous sclerosis
ポイツ・イェーガー症候群, Peutz-Jeghers syndrome：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))、眼の脈絡膜血管腫、脳軟膜の血管腫　→　中枢神経症状(乳幼児期からの痙攣発作、大脳半球萎縮、石灰化、知能障害)、眼症状(脈絡膜の血管腫による眼圧亢進、緑内障　→　牛眼　)
色素失調症, incontinentia pigmenti, ブロッホ・ザルツバーガー症候群, Bloch-Sulzberger syndrome
スタージ・ウェーバー症候群, Sturge-Weber syndrome：遺伝性無し。皮膚症状：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1)) 。中枢神経症状：顔面血管腫が存在する側の特に後頭葉に脳軟膜の血管腫が発生 (NDE.349)。乳幼児期からの血管発作。大脳半球萎縮、石灰化、知能障害。眼症状：緑内障(牛眼)
クリッペル・トレノーニイ・ウェーバー症候群, Klippel-Trenaunay-Weber syndrome
神経皮膚黒色症, neurocutaneous smelanosis
汎発性黒子症候群, lentiginosis profusa, LEOPARD症候群
基底細胞母斑症候群, basal cell nevus syndrome
フォン・ヒッペル・リンドウ病, von Hippel-Lindau disease：常染色体優性遺伝。
色素血管母斑症, phacomatosis pigmentovascularis, オスラー病, Osler disease
遺伝性出血性毛細血管拡張症, hereditary hemorrhagic telangiectasia
青色ゴムマリ様母斑症候群, blue rubber-bleb nevus syndrome
マフッチ症候群, Maffucci's syndrome
Zinsser-Cole-Engman症候群, Zinsser-Cole-Engman syndrome
先天性角化異常症, dyskeratosis congenita
表皮母斑症候群, epidermal nervus syndrome
先天性血管拡張性大理石様皮斑, cutis marmorata telangiectatica congenita

「神経線維腫症2型」

　　[★]

英: neurofibromatosis type 2 NF2, neurofibromatosis type II NF II, neurofibromatosis 2
同: 神経線維腫症II型
関: 神経線維腫症1型 neurofibromatosis type 1 NF1

概念

中枢神経系良性腫瘍

両側の聴神経線維腫を伴う → 聴神経線維腫症

病因

NF2遺伝子。NF2蛋白=マーリン merlin(moesin-ezrin-radxin like protein)

NF2だけでなく神経鞘腫、髄膜腫、悪性中皮腫にも関連

遺伝

常染色体優性遺伝

疫学

5-10万人に1人

症状

難聴、めまい、平衡覚の異常

合併症

両側性聴神経鞘腫 CNVIIIの前庭神経鞘腫
聴神経鞘腫、神経線維腫、髄膜腫、神経膠腫、神経鞘腫、若年性白内障

診断

検査

治療

診断基準(NIH)

以下の1つ以上を満たす。

1. CT かMRIでの診断で認めた両側聴神経の腫瘍
2. NF2の家族歴があり、本人が一側性の聴神経腫瘍を有するか、神経線維腫、髄膜腫、神経膠腫、神経鞘腫、若年性白内障のうち2つを有していること。

予後

予後不良。

多発性頭蓋内腫瘍が再発を繰り返す

「常染色体優性遺伝病」

　　[★]

英: autosomal dominant disease, autosomal dominant disorder
同: 常染色体優性遺伝疾患
関: 常染色体劣性遺伝病

autosomal-dominant diseases (first aid step p.108)

男性の年齢と孤発性常染色体優性遺伝病

HIM.2319

高齢男性の子供ではsporadic missense mutationにより発生しやすい
achondroplasia、polyposis coli、Marfan syndrome、Apert's symdrome

「acoustic schwannoma」

　　[★]

聴神経鞘腫、聴神経シュワン細胞腫

関: acoustic neurinoma、acoustic neuroma、bilateral acoustic neurofibromatosis、neurofibromatosis 2、neurofibromatosis II、neurofibromatosis type 2、neurofibromatosis type II、type 2 neurofibromatosis、type II neurofibromatosis、vestibular schwannoma

「type」

　　[★]

n.

型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関: form、mode、pattern、type specimen、typed

「typed」

　　[★]

adj.

型の

関: form、mode、pattern、type

「typing」

　　[★]

n.

タイプで打つこと、タイピング。分類

「neurofibromatosis」

　　[★] 神経線維腫症 NF 　

[pmid18953429-1] Striedinger K, VandenBerg SR, Baia GS, McDermott MW, Gutmann DH, Lal A (November 2008). "The neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP". Neoplasia. 10 (11): 1204–12. PMC 2570596 . PMID 18953429.

[2] Rouleau, GA; Merel, P; Lutchman, M; Sanson, M; Zucman, J; Marineau, C; Hoang-Xuan, K; Demczuk, S; Desmaze, C; Plougastel, B (10 June 1993). "Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.". Nature. 363 (6429): 515–21. doi:10.1038/363515a0. PMID 8379998.

[pmid19545378-3] Evans DG (2009). "Neurofibromatosis type 2 (NF2): a clinical and molecular review". Orphanet J Rare Dis. 4: 16. doi:10.1186/1750-1172-4-16. PMC 2708144 . PMID 19545378.

[pmid20491622-4] Stamenkovic, I; Yu, Q (2010). "Merlin, a "magic" linker between extracellular cues and intracellular signaling pathways that regulate cell motility, proliferation, and survival". Current protein & peptide science. 11 (6): 471–84. PMC 2946555 . PMID 20491622.

[Gillberg2003-5] Christopher Gillberg (16 October 2003). Clinical Child Neuropsychiatry. Cambridge University Press. pp. 231–. ISBN 978-0-521-54335-4. Retrieved 20 December 2010.

[6] "Are there any prenatal tests for the neurofibromatoses?"

[7] Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.

[urlNeurofibromatosis_Type_2:_eMedicine_Radiology-8] "Neurofibromatosis Type 2: eMedicine Radiology". Retrieved 2010-12-20.

[R.C3.A9gisRoche2008-9] Jean Régis; Pierre-Hugues Roche (2008). Modern Management of Acoustic Neuroma. Karger Publishers. pp. 191–. ISBN 978-3-8055-8370-1. Retrieved 20 December 2010.

[10] ttp://content.nejm.org/cgi/content/full/NEJMoa0902579v1

[11] Mautner VF, Nguyen R, Kutta H, et al. (January 2010). "Bevacizumab induces regression of vestibular schwannomas in patients with neurofibromatosis type 2". Neuro-oncology. 12 (1): 14–8. doi:10.1093/neuonc/nop010. PMC 2940556 . PMID 20150363.

[pmid19249154-12] Walter J, Kuhn SA, Brodhun M, Reichart R, Kalff R (June 2009). "Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2". Clin Neurol Neurosurg. 111 (5): 454–9. doi:10.1016/j.clineuro.2008.11.018. PMID 19249154.

v t e Phakomatosis (Q85, 759.5–759.6)

Angiomatosis	Sturge–Weber syndrome Von Hippel–Lindau disease

Hamartoma	Tuberous sclerosis Hypothalamic hamartoma (Pallister–Hall syndrome) Multiple hamartoma syndrome Proteus syndrome Cowden syndrome Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease

Neurofibromatosis	Type I Type II

Other	Abdallat–Davis–Farrage syndrome Ataxia telangiectasia Incontinentia pigmenti Peutz–Jeghers syndrome

匿名

検索

案内

neurofibromatosis type 2