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乳腺管状小叶癌(Tubulolobular carcinoma,TLC)最初是被作为小叶癌的管状变型。作者总结了27例TLC的组织学、免疫表型和临床特征,并与纯小管癌和经典型小叶癌进行了比较。此组患者年龄43-79岁(中位年龄60岁)。1例双侧乳腺受累,5例病变为多灶性。肿瘤直径0.5-2.5cm,色灰褐,质硬。组织学观察:TLC的肿瘤细胞形成管状和条索状两种结构模式并相互混杂,且两者比例相当(统称为管状小叶模式)。 相似文献
4.
Germline mutations of the CDKN2 gene in UK melanoma families 总被引:4,自引:1,他引:4
Harland M; Meloni R; Gruis N; Pinney E; Brookes S; Spurr NK; Frischauf AM; Bataille V; Peters G; Cuzick J; Selby P; Bishop DT; Bishop JN 《Human molecular genetics》1997,6(12):2061-2067
Germline mutations in CDKN2 on chromosome 9p21, which codes for the cyclin
D kinase inhibitor p16, and more rarely, mutations in the gene coding for
CDK4, the protein to which p16 binds, underlie susceptibility in some
melanoma families. We have sequenced all exons of CDKN2 and analysed the
CDK4 gene for mutations in 27 UK families showing evidence of
predisposition to melanoma. Five different germline mutations in CDKN2 were
found in six families. Three of the mutations (Met53Ile, Arg24Pro and
23ins24) have been reported previously. We have identified two novel CDKN2
mutations (88delG and Ala118Thr) which are likely to be associated with the
development of melanoma, because of their co-segregation with the disease
and their likely functional effect on the CDKN2 protein. In binding assays
the protein expressed from the previously described mutation, Met53Ile, did
not bind to CDK4/CDK6, confirming its role as a causal mutation in the
development of melanoma. Ala118Thr appeared to be functional in this assay.
Arg24Pro appeared to bind to CDK6, but not to CDK4. No mutations were
detected in exon 2 of CDK4, suggesting that causal mutations in this gene
are uncommon. The penetrance of these mutant CDKN2 genes is not yet
established, nor is the risk of non-melanoma cancer to gene carriers.
相似文献
5.
Skin tumors induced in mice by initiation-promotion (2 microg DMBA-2 microg
TPA) protocols were found to be under multigenic control. Eighty- one N2
mice from the cross (BALB/cAnPt x SENCARA/Pt)F1 x SENCARA/Pt that were
either solidly resistant (no papillomas) or highly susceptible (> or = 7
papillomas/mouse) were subjected to a 'genome scan' using 89 microsatellite
markers to check for associations with susceptible and resistant
phenotypes. A locus on Chr 5 (Skts4) was found to control the
susceptibility of SENCARA/Pt mice and the resistance of BALB/cAnPt mice to
papilloma formation. In addition, higher than expected linkage scores were
seen for the markers D9Mit271, D11Mit268 and D12Mit56. Further work is
required to establish whether genes determining papilloma formation are
located in these regions of the genome. In general, no evidence was seen
for loss of heterozygosity in microsatellite markers on Chrs 5, 9 and 11 in
17 microdissected papillomas from (BALB/c x SENCARA)F1 hybrid mice.
相似文献
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7.
Although exposure of LLC-PK1 epithelial cell sheets to phorbol esters (TPA)
causes a near immediate and total decrease of transepithelial electrical
resistance (TER), continuation of exposure for 3 to 4 days results in a
tachyphylactic response as TER begins to return to control levels. Recovery
of TER is maximal by 5 to 6 days, but reaches only 70 to 80% of control
level. A reciprocal change in the transepithelial flux of D-mannitol
indicates that the TER decrease is indicative of an increase in tight
junction permeability. Exposure of cell sheets to TPA for several days also
results in the appearance of multilayered polyp- like foci (PLFs) across
the otherwise one cell layer thick cell sheets. The pattern of penetration
of the electron dense dye, ruthenium red, from the apical surface, across
the tight junction and into the lateral intercellular space indicates that
the tight junctions of the cell sheet become uniformly leaky after acute
exposure to TPA. However, when exposure is continued for several days, only
the junctions of cells in the PLFs manifest leakiness. The decrease in TER
following acute TPA exposure correlates with the translocation of protein
kinase C-alpha (PKC alpha) into a membrane-associated compartment. With
exposure of several days, only a trace of PKC alpha is visible by Western
immunoblot, and this is in the membrane-associated compartment.
Immunofluorescent microscopy indicates that the trace of PKC alpha seen in
the Western immunoblots is ascribable distinctly to cells of the PLFs.
Monolayer areas between PLFs show no discernible immunofluorescent signal.
The data therefore indicate that tight junction barrier function may be
restored in certain areas by the down regulation of PKC alpha from the
membrane-associated compartment. Failure to down regulate may result in the
paracellular leakiness and abnormal cell architecture of the PLFs. Possible
implications of this model for in vivo epithelial tumor promotion are
discussed.
相似文献
8.
Molecular analysis of PKU in Ireland 总被引:1,自引:0,他引:1
CA O'Neill RC Eisensmith DT Croke ER Naughten SF Cahalane SLC Woo 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):43-44
Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of <10%. VNTR analysis showed that the R408W mutation is associated with the VNTR-8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR-3; an observation which has led several groups to propose a Balto-Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR-8 chromsome background in the Irish/Celtic population. 相似文献
9.
Katja Nelson DDS Detlef Hildebrand DMD DT Juergen Mehrhof MDT 《Journal of prosthodontics》2008,17(7):591-595
This article describes a method of fabricating a fixed retrievable implant‐retained prosthesis based on electroforming. This method combines the advantages of both the cement‐ and screw‐retained prostheses, including passive fit, ease of fabrication, and retrievability. The absence of visible occlusal screw‐canals adds to its increased esthetic appeal. 相似文献
10.
Schizencephaly: diagnosis and progression in utero 总被引:2,自引:0,他引:2
Schizencephaly is an unusual condition of obscure etiology. Most theories of pathogenesis postulate an in utero insult leading to maldevelopment rather than destruction of brain. The cause has most often been described as vascular or idiopathic dysgenesis. The authors report a case in which two in utero ultrasound (US) examinations performed at 31 and 36 menstrual weeks demonstrated progressive deterioration of the relatively narrow, symmetrical clefts connecting the lateral ventricles with the subarachnoid space into broad defects that corresponded to the entire distribution of the middle cerebral arteries. The findings in this case document progressive destruction of brain tissue in utero and are consistent with a vascular cause rather than a failure of formation of portions of the cerebral mantle. 相似文献