-
Something wrong with this record ?
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome
D.V. Kazakov, P. Grossmann, D.V. Spagnolo, T. Vanecek, M. Vazmitel, D. Kacerovska, B. Zelger, E. Calonje, M. Michal,
Language English Country United States
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Grant support
NS9734
MZ0
CEP Register
- MeSH
- Carcinoma, Adenoid Cystic genetics pathology MeSH
- Adenoma genetics pathology MeSH
- Point Mutation MeSH
- DNA, Neoplasm genetics MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Neoplasms, Multiple Primary genetics pathology MeSH
- DNA Mutational Analysis MeSH
- Tumor Suppressor Protein p53 genetics metabolism MeSH
- Sweat Gland Neoplasms genetics pathology MeSH
- Gene Expression Regulation, Neoplastic MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Syndrome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
We performed immunohistochemical assessment of p53 expression and TP53 mutational analysis of 15 malignant neoplasms arising from preexisting benign cylindroma, spiradenoma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. At least weak and focal p53 positivity was present in 13 of the 15 lesions. Successful PCR and sequencing were possible in 12 of the 15 cases. In one case only there were 2 p53 mutations, one being a c.673-1G>A splice-site mutation in the 3'-end of intron 6 (position--g.15289G>A, contig gb.AY838696.1) and the second being a c.743G>A (p.R248Q) mutation in exon 7 (position--15360G>A, contig gb.AY838696.1). Single nucleotide polymorphisms were detected in all 12 malignant cases analyzed. As a control group, we included 12 randomly selected sporadic cases of spiradenoma (n = 5), cylindroma (n = 4), and spiradenocylindroma (n = 3). None of the 12 benign control group cases harbored a TP53 mutation, whereas all 12 demonstrated single nucleotide polymorphisms identical to those detected in the malignant tumor group. Immunohistochemically, 1 cylindroma and 2 spiradenomas demonstrated weak and focal p53 positivity. In conclusion, we found a fairly high rate of p53 expression in malignant neoplasms arising from preexisting benign spiradenomas, cylindromas, and spiradenocylindromas. However, the mutation rate of TP53 was low. Whereas immunostaining for p53 has been suggested as an adjunct tool to differentiate benign spiradenoma, cylindroma, and spiradenocylindroma from their malignant counterparts, its utility is limited by its heterogeneous pattern of expression, especially the sometimes lack of staining in clearly malignant areas and the occurrence of focal, weak positivity in the benign residua or in unequivocally benign neoplasms.
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc12025962
- 003
- CZ-PrNML
- 005
- 20160803104048.0
- 007
- ta
- 008
- 120817s2010 xxu f 000 0#eng||
- 009
- AR
- 024 7_
- $a 10.1097/dad.0b013e3181b9678c $2 doi
- 035 __
- $a (PubMed)20075707
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Kazakov, Dmitry V. $7 xx0127940 $u Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Pilsen, Czech Republic. kazakov@medima.cz
- 245 10
- $a Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome / $c D.V. Kazakov, P. Grossmann, D.V. Spagnolo, T. Vanecek, M. Vazmitel, D. Kacerovska, B. Zelger, E. Calonje, M. Michal,
- 520 9_
- $a We performed immunohistochemical assessment of p53 expression and TP53 mutational analysis of 15 malignant neoplasms arising from preexisting benign cylindroma, spiradenoma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. At least weak and focal p53 positivity was present in 13 of the 15 lesions. Successful PCR and sequencing were possible in 12 of the 15 cases. In one case only there were 2 p53 mutations, one being a c.673-1G>A splice-site mutation in the 3'-end of intron 6 (position--g.15289G>A, contig gb.AY838696.1) and the second being a c.743G>A (p.R248Q) mutation in exon 7 (position--15360G>A, contig gb.AY838696.1). Single nucleotide polymorphisms were detected in all 12 malignant cases analyzed. As a control group, we included 12 randomly selected sporadic cases of spiradenoma (n = 5), cylindroma (n = 4), and spiradenocylindroma (n = 3). None of the 12 benign control group cases harbored a TP53 mutation, whereas all 12 demonstrated single nucleotide polymorphisms identical to those detected in the malignant tumor group. Immunohistochemically, 1 cylindroma and 2 spiradenomas demonstrated weak and focal p53 positivity. In conclusion, we found a fairly high rate of p53 expression in malignant neoplasms arising from preexisting benign spiradenomas, cylindromas, and spiradenocylindromas. However, the mutation rate of TP53 was low. Whereas immunostaining for p53 has been suggested as an adjunct tool to differentiate benign spiradenoma, cylindroma, and spiradenocylindroma from their malignant counterparts, its utility is limited by its heterogeneous pattern of expression, especially the sometimes lack of staining in clearly malignant areas and the occurrence of focal, weak positivity in the benign residua or in unequivocally benign neoplasms.
- 650 _2
- $a adenom $x genetika $x patologie $7 D000236
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a senioři nad 80 let $7 D000369
- 650 _2
- $a adenoidně cystický karcinom $x genetika $x patologie $7 D003528
- 650 _2
- $a mutační analýza DNA $7 D004252
- 650 _2
- $a DNA nádorová $x genetika $7 D004273
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a regulace genové exprese u nádorů $7 D015972
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a mnohočetné primární nádory $x genetika $x patologie $7 D009378
- 650 _2
- $a bodová mutace $7 D017354
- 650 _2
- $a nádory potních žláz $x genetika $x patologie $7 D013544
- 650 _2
- $a syndrom $7 D013577
- 650 _2
- $a nádorový supresorový protein p53 $x genetika $x metabolismus $7 D016159
- 650 _2
- $a mladý dospělý $7 D055815
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Grossmann, Petr $7 xx0108998
- 700 1_
- $a Spagnolo, Dominic V
- 700 1_
- $a Vaněček, Tomáš $7 xx0044814
- 700 1_
- $a Vazmitel, Marina
- 700 1_
- $a Kacerovská, Denisa $7 xx0083086
- 700 1_
- $a Zelger, Bernhard
- 700 1_
- $a Calonje, Eduardo
- 700 1_
- $a Michal, Michal, $d 1959- $7 jn20001103501
- 773 0_
- $w MED00000240 $t The American Journal of dermatopathology $x 1533-0311 $g Roč. 32, č. 3 (2010), s. 215-221
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/20075707 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y m $z 0
- 990 __
- $a 20120817 $b ABA008
- 991 __
- $a 20160803104318 $b ABA008
- 999 __
- $a ok $b bmc $g 948004 $s 783308
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2010 $b 32 $c 3 $d 215-221 $i 1533-0311 $m The American journal of dermatopathology $n Am J Dermatopathol $x MED00000240
- GRA __
- $a NS9734 $p MZ0
- LZP __
- $a Pubmed-20120817/10/03