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ole in mediating interactions between the cell membrane and the cytoskeleton. Mutations were found in both the germline of NF2 patients and sporadic variants of tumors associated with NF2 (Rouleau et aI., 1993; Trofatter et aI., 1993; Bianchi et aI., 1994; Jacoby et aI., 1994; Ruttledge et aI., 1994; Chapter VIII). Most mutations result in frameshifts, which lead to truncation of the protein, and presumably a loss of function. Almost all meningiomas with complete or partial loss of chromosome 22 revealed mutations in the NF2 gene. These findings support the view that the NF2 gene functions as a recessive tumor suppressor gene. Mutations in the NF2 gene transcript were also observed in breast carcinoma and melanoma, neoplasms unrelated to NF2. However, no mutations were observed in pheochromocytomas and colon carcinomas in which chromosome 22q loss has frequently been observed (Bianchi et aI., 1994). 30
4 MENINGIOMA 4.1 Cells of origin In 1922 the name 'meningioma' was first introduced by Harvey Cushing for a benign tumor of the meninges of the central nervous system. The meninges, the coverings of the brain and spinal cord, are composed of three layers with at the outside the pachymeninx or dura mater and at the inside the leptomeninges composed of the arachnoid and pia mater. Embryogenesis of the meninges, at least in humans, is still not very well elucidated. Experimental work in lower vertebrates indicates that the dura mater and probably also the arachnoid are mesodermal in origin, whereas the pia mater probably is ectodermal in origin and is largely derived from neural crest cells (Kepes, 1982; Russell and Rubinstein, 1989). Different lines of evidence suggest that meningiomas arise from arachnoid cells (Kepes, 1982; Upton and Weller, 1985; Russell and Rubinstein, 1989). 4.2 Frequency, incidence and occurrence Intracranial meningiomas represent approximately 13-19% of all primary intracranial tumors that are treated by surgery and an incidence of 12 % was recorded for the spinal meningiomas (Russell and Rubinslein, 1989). The aclual incidence of meningiomas is probably much higher because Ihese lumors are slowly growing and may slay asymplomatic in a large number of cases. An eslimale of Ihe overal incidence of meningiomas could be calculated from a Swedish sludy in which during a to-year period 172 meningiomas were found in 11,793 autopsies: a prevalence of 1.46% (Rausing el aI., 1970). However, in only 11 of these cases meningiomas were the main cause of death. Belween 2-3 limes as many females develop meningiomas as males and the highesl incidence is observed in the fiflh and sixth decade of life (Zang, 1982). During childhood meningiomas are dislinctly rare (Perilongo el aI., 1992). There are three patterns of occurrence (Butti el aI., 1989; Domenicucci el aI., 1989; Russell and Rubinslein, 1989; McDowell, 1990; Sieb et aI., 1992): 1) sporadic solitary cases; 31
Page 1: GENES ON CHROMOSOME 22 INVOLVED IN
Page 4 and 5: PROMOTmCOMMIssm Promotor: Prof. Dr.
Page 6 and 7: Contents List of abbreviations 9 Ch
Page 9: List of abbreviations APC bp DCC FA
Page 13 and 14: 1 Cancer is a genetic disease It is
Page 15 and 16: transformation came from somatic ce
Page 17 and 18: to tumorigenesis if a mutation inac
Page 19 and 20: is that this interaction inactivate
Page 21 and 22: endogenous wt p53 by forming mixed
Page 23 and 24: Recent studies in these families ha
Page 25 and 26: In about 15% of all colon tumors an
Page 27 and 28: e explained by assuming that the nu
Page 29: 3.6 The NFl gene Neurofibromatosis
Page 33 and 34: fossa and foramen magnum), convexit
Page 35 and 36: early cell cultures the presence of
Page 37 and 38: gene (Dumanski et aI., NNFF consort
Page 39 and 40: et aI., 1991b; Larsson et aI., 1990
Page 41 and 42: 6 References Aaltonen LA, Peltomiik
Page 43 and 44: (1988) SV40 large tumor antigen for
Page 45 and 46: Haber DA, Buckler AJ, Glaser T, Cal
Page 47 and 48: carcinomas. Genes Chrom Cancer 2:19
Page 49 and 50: Pelletier J, Breunin~ W, Kashtan CE
Page 51 and 52: Stratton MR, Darling J, Lantos PL,
Page 53: Chapter II Isolatioll alld characte
Page 56 and 57: SHORT COMMUNICATION TABLE 1 Charact
Page 59: Appendix A lIew polymorphic probe 0
Page 62 and 63: Nudeic Acids Research, Vol. 19, No.
Page 65: Chapter III Cytogenetic, molecular
Page 68 and 69: Introduction Meningiomas are consid
Page 70 and 71: defined by evaluating 6 histologica
Page 72 and 73: number of clonal chromosomal abnorm
Page 74 and 75: #22 status No. Sex/Age (yr) Site of
Page 76 and 77: #22 slattls No. SexiAge (yr) Site o
Page 78 and 79: #22 status No. Sex/Age (yr) Site of
Page 80 and 81:
Table 2. Comparison of FISH, cytoge
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No. Days in Karyotypes andlor clona
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No. Days in Karyotypes and/or clona
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to map both breakpoints (data not s
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Statistical analyses concerning age
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Tuble 4. Frequency tables between d
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from adult patients, indicating tha
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Acknowledgements This study was sup
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McDermid HE, Duncan AMV, Higgins MJ
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Chapter IV Familial anaplastic epen
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Familial anaplastic ependymoma: evi
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PATIENT A, born 1977, presented at
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Microscopic examination (patients A
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(Lekanne Deprez et aI., 1994). Tabl
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Chapter V A t(4;22) ill a meningiom
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Am. J. HI/m. Genet. 48:783-790, 199
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Putative Tumor-suppressor Gene in M
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Page 117 and 118:
Page 119 and 120:
Chapter VI Molecular clolling of a
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Molecular Cloning of a Gene Disrupt
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to playa role in the development of
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total sheared human genomic DNA bef
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Genomic cosmid contig spanning the
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probe A is conserved in hamster DNA
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Southerll, 1l0l1hern blots and evol
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The evolutionary conservation of th
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A " l ... aGAP~RAGC EPOV~SR~AGQGE ;
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postulates that the first AUG codon
Page 139 and 140:
Bijlsma EK, Brouwer~Mladin R, Bosch
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Tanaka N, Nishisho I, Yamamoto 1'.1
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Chapter VII Constitutional DNA-leve
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GENES, CHROMOSOMES & CANCER 9;124-1
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LfKANNf DfPREZ fT AL TABLE I. Cytog
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LEKANNE DEPRF2 ET AL could be that
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Chapter VIII Frequent NF2 gene tran
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Am.'. HIIIII. Gellet. 54:1022-1029,
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Lekanne Deprez ct al. Table I Oligo
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Table 2 Nfl Gene-Transcript Mutatio
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Lebnne Deprez et lli. observed at a
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Summary and Discussion Meningioma i
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translocation (Chapter V). These hy
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were derived from patients with mor
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Samenvatting Meningeomen zUn goedaa
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het gebied rondom het MNI gen te be
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Curriculum vitae 30 juni 1965 gebor
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List of publications I) van 't Veer
Page 175 and 176:
Nawoord Dit boekje is 101 sland gek
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