Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

PTEN mutations as predictive marker for the high-grade endometrial cancer development in slovak women

H. Gbelcová, L. Gergely, V. Šišovský, Ľ. Straka, D. Böhmer, A. Pastoráková, K. Sušienková, V. Repiská, M. Korbeľ, Ľ. Danihel, P. Priščáková

. 2022 ; 71 (Suppl 1) : S125-S135. [pub] 2022Dec27

Jazyk angličtina Země Česko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc22033991

Endometrial carcinoma (ECa) is one of the most common neoplasia of the female genital tract. The phosphatase and tensin (PTEN) homolog is the most frequently mutated tumor suppressor gene in endometrial carcinoma. PTEN encodes a phosphatase, a key regulatory enzyme involved in a signal transduction pathway that regulates cell growth, migration and apoptosis. The study evaluates an association between the morphological appearance of endometrial hyperplasia and ECa, and the presence of PTEN variations, PTEN protein ́s level and intracellular localization. A total of 67 archived formalin-fixed and paraffin-embedded human biopsy tissue specimens with normal proliferative and secretory endometrium, endometrial hyperplasia without atypia and endometrial atypical hyperplasia, endometrioid the grade G1 and G3 and serous subtype of ECa were evaluated by sequencing for the presence of mutations in coding regions of PTEN gene of endometrial epithelial cells. The PTEN gene expression and intercellular localization of PTEN protein were evaluated immunohistochemically by immunoreactive score (IRS). PTEN mutation spectrum in endometrial carcinoma was identified for Slovak population. 28 non-silent mutations were identified in PTEN, twelve of them were novel, not annotated in Catalogue of Somatic Mutations in Cancer. Higher frequency of PTEN mutations was observed in serous carcinoma compared to global average. No correlation was observed between samples ́ IRS, PTEN cellular localization and identified mutations. PTEN sequencing can be beneficial for patients considering prognosis of disease and sensitivity to treatment.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22033991
003      
CZ-PrNML
005      
20250813094121.0
007      
ta
008      
230207s2022 xr d f 000 0|eng||
009      
AR
024    7_
$a 10.33549/physiolres.935030 $2 doi
035    __
$a (PubMed)36592448
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xr
100    1_
$a Gbelcová, Helena, $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Bratislava, Slovak Republic. petra.priscakova@fmed.uniba.sk $d 1982- $7 xx0257254
245    10
$a PTEN mutations as predictive marker for the high-grade endometrial cancer development in slovak women / $c H. Gbelcová, L. Gergely, V. Šišovský, Ľ. Straka, D. Böhmer, A. Pastoráková, K. Sušienková, V. Repiská, M. Korbeľ, Ľ. Danihel, P. Priščáková
520    9_
$a Endometrial carcinoma (ECa) is one of the most common neoplasia of the female genital tract. The phosphatase and tensin (PTEN) homolog is the most frequently mutated tumor suppressor gene in endometrial carcinoma. PTEN encodes a phosphatase, a key regulatory enzyme involved in a signal transduction pathway that regulates cell growth, migration and apoptosis. The study evaluates an association between the morphological appearance of endometrial hyperplasia and ECa, and the presence of PTEN variations, PTEN protein ́s level and intracellular localization. A total of 67 archived formalin-fixed and paraffin-embedded human biopsy tissue specimens with normal proliferative and secretory endometrium, endometrial hyperplasia without atypia and endometrial atypical hyperplasia, endometrioid the grade G1 and G3 and serous subtype of ECa were evaluated by sequencing for the presence of mutations in coding regions of PTEN gene of endometrial epithelial cells. The PTEN gene expression and intercellular localization of PTEN protein were evaluated immunohistochemically by immunoreactive score (IRS). PTEN mutation spectrum in endometrial carcinoma was identified for Slovak population. 28 non-silent mutations were identified in PTEN, twelve of them were novel, not annotated in Catalogue of Somatic Mutations in Cancer. Higher frequency of PTEN mutations was observed in serous carcinoma compared to global average. No correlation was observed between samples ́ IRS, PTEN cellular localization and identified mutations. PTEN sequencing can be beneficial for patients considering prognosis of disease and sensitivity to treatment.
650    _2
$a lidé $7 D006801
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a fosfohydroláza PTEN $x genetika $7 D051059
650    12
$a hyperplazie endometria $x genetika $x patologie $7 D004714
650    _2
$a endometrium $x metabolismus $x patologie $7 D004717
650    12
$a nádory endometria $x diagnóza $x genetika $7 D016889
650    _2
$a mutace $7 D009154
651    _2
$a Slovenská republika $x epidemiologie $7 D018154
655    _2
$a časopisecké články $7 D016428
700    1_
$a Gergely, Lajos, $d 1997- $7 xx0269515 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Šišovský, Vladimír $7 xx0104743 $u Department of Pathology, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Straka, Ľubomír $7 xx0119600 $u Clinical Pathology, Presov, Slovak Republic
700    1_
$a Böhmer, Daniel $7 xx0104195 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Pastoráková, Andrea, $d 1975- $7 xx0334477 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Sušienková, K. $7 _AN122802 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Repiská, Vanda $7 xx0257331 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Korbeľ, Miroslav, $d 1956- $7 xx0082170 $u 1st Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University in Bratislava, Slovak Republic
700    1_
$a Danihel, Ľudovít, $d 1950- $7 nlk20000090334 $u Department of Pathology, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
700    1_
$a Priščáková, Petra $7 xx0257282 $u Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Slovak Republic
773    0_
$w MED00003824 $t Physiological research $x 1802-9973 $g Roč. 71, Suppl 1 (2022), s. S125-S135
856    41
$u https://pubmed.ncbi.nlm.nih.gov/36592448 $y Pubmed
910    __
$a ABA008 $b A 4120 $c 266 $y p $z 0
990    __
$a 20230207 $b ABA008
991    __
$a 20250813094113 $b ABA008
999    __
$a ok $b bmc $g 1894799 $s 1185380
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2022 $b 71 $c Suppl 1 $d S125-S135 $e 2022Dec27 $i 1802-9973 $m Physiological research $n Physiol. Res. (Print) $x MED00003824
LZP    __
$b NLK116 $a Pubmed-20230207

Najít záznam

Citační ukazatele

Možnosti archivace