• Je něco špatně v tomto záznamu ?

Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor

AM. Konstantinova, T. Vanecek, P. Martinek, L. Kyrpychova, DV. Spagnolo, CJR. Stewart, F. Portelli, M. Michal, DV. Kazakov,

. 2017 ; 28 (-) : 12-18. [pub] 20170209

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18024901

Lesions affecting anogenital mammary-like glands (AGMLG) are histopathologically very similar to those seen in the breast but whether this morphological similarity is also reflected at the genetic level is unknown. To compare the underlying molecular mechanisms in lesions of AGMLG and their mammary counterparts, we analyzed the mutational profile of 16 anogenital neoplasms including 5 hidradenomas papilliferum (HP), 1 lesion with features of HP and fibroadenoma (FA), 7 FA, 3 phyllodes tumors (PhT)) and 18 analogous breast lesions (6 intraductal papillomas (IDP), 9 FA, and 3 PhT) by high-coverage next generation sequencing (NGS) using a panel comprising 50 cancer-related genes. Additionally, all cases were analyzed for the presence of a mutation in the MED12 gene. All detected mutations with allele frequencies over 20% were independently validated by Sanger sequencing (concordance: 100%). Mutations in PIK3CA, AKT1, MET, ABL1 and TP53 genes were found in lesions of AGMLG and also their mammary counterparts. The PI3K-AKT cascade plays a role in tumors arising at both sites. It appears that some histopathologically similar anogenital and breast lesions develop along similar molecular pathways.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc18024901
003      
CZ-PrNML
005      
20180712090313.0
007      
ta
008      
180709s2017 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.anndiagpath.2017.02.004 $2 doi
035    __
$a (PubMed)28648934
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Konstantinova, Anastasia M $u Department of Pathology, Clinical research and practical center for specialized oncological care, Saint-Petersburg, Russia; Department of Pathology, Medical Faculty, Saint-Petersburg State University, Russia; Department of Pathology, Medico-Social Institute, St.-Petersburg, Russia.
245    10
$a Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor / $c AM. Konstantinova, T. Vanecek, P. Martinek, L. Kyrpychova, DV. Spagnolo, CJR. Stewart, F. Portelli, M. Michal, DV. Kazakov,
520    9_
$a Lesions affecting anogenital mammary-like glands (AGMLG) are histopathologically very similar to those seen in the breast but whether this morphological similarity is also reflected at the genetic level is unknown. To compare the underlying molecular mechanisms in lesions of AGMLG and their mammary counterparts, we analyzed the mutational profile of 16 anogenital neoplasms including 5 hidradenomas papilliferum (HP), 1 lesion with features of HP and fibroadenoma (FA), 7 FA, 3 phyllodes tumors (PhT)) and 18 analogous breast lesions (6 intraductal papillomas (IDP), 9 FA, and 3 PhT) by high-coverage next generation sequencing (NGS) using a panel comprising 50 cancer-related genes. Additionally, all cases were analyzed for the presence of a mutation in the MED12 gene. All detected mutations with allele frequencies over 20% were independently validated by Sanger sequencing (concordance: 100%). Mutations in PIK3CA, AKT1, MET, ABL1 and TP53 genes were found in lesions of AGMLG and also their mammary counterparts. The PI3K-AKT cascade plays a role in tumors arising at both sites. It appears that some histopathologically similar anogenital and breast lesions develop along similar molecular pathways.
650    _2
$a senioři $7 D000368
650    _2
$a prsy $x patologie $7 D001940
650    _2
$a nádory prsu $x genetika $x patologie $7 D001943
650    _2
$a fosfatidylinositol-3-kinasy třídy I $x metabolismus $7 D058534
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a fibroadenom $x metabolismus $x patologie $7 D018226
650    _2
$a vysoce účinné nukleotidové sekvenování $x metody $7 D059014
650    _2
$a lidé $7 D006801
650    _2
$a lidé středního věku $7 D008875
650    _2
$a mutace $x genetika $7 D009154
650    _2
$a papilom intraduktální $x metabolismus $x patologie $7 D018300
650    _2
$a fosfatidylinositol-3-kinasy $x metabolismus $7 D019869
650    _2
$a cystosarcoma phyllodes $x metabolismus $x patologie $7 D003557
650    _2
$a adenomy potních žláz $x metabolismus $x patologie $7 D000074009
650    _2
$a nádory vulvy $x patologie $7 D014846
655    _2
$a časopisecké články $7 D016428
700    1_
$a Vanecek, Tomas $u Departments of Pathology, Charles University, Medical Faculty and Charles University Hospital, Pilsen, Czech Republic; Department of Molecular Genetics, Bioptical Laboratory Ltd., Pilsen, Czech Republiс.
700    1_
$a Martinek, Petr $u Departments of Pathology, Charles University, Medical Faculty and Charles University Hospital, Pilsen, Czech Republic; Department of Molecular Genetics, Bioptical Laboratory Ltd., Pilsen, Czech Republiс.
700    1_
$a Kyrpychova, Liubov $u Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic.
700    1_
$a Spagnolo, Dominic V $u PathWest Laboratory Medicine WA, QEII Medical Centre, Nedlands, WA, Australia; University of Western Australia, School of Pathology and Laboratory Medicine, Nedlands, WA, Australia.
700    1_
$a Stewart, Colin J R $u Department of Histopathology, King Edward Memorial Hospital, Perth, Western Australia, Australia.
700    1_
$a Portelli, Francesca $u Division of Anatomic Pathology, University of Palermo, Italy.
700    1_
$a Michal, Michal $u Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic; Bioptical Laboratory, Pilsen, Czech Republic.
700    1_
$a Kazakov, Dmitry V $u Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Pilsen, Czech Republic; Bioptical Laboratory, Pilsen, Czech Republic. Electronic address: kazakov@medima.cz.
773    0_
$w MED00166541 $t Annals of diagnostic pathology $x 1532-8198 $g Roč. 28, č. - (2017), s. 12-18
856    41
$u https://pubmed.ncbi.nlm.nih.gov/28648934 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20180709 $b ABA008
991    __
$a 20180712090605 $b ABA008
999    __
$a ok $b bmc $g 1317032 $s 1021822
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2017 $b 28 $c - $d 12-18 $e 20170209 $i 1532-8198 $m Annals of diagnostic pathology $n Ann. diagn. pathol. $x MED00166541
LZP    __
$a Pubmed-20180709
Zpět

Najít záznam

Citační ukazatele

Možnosti archivace