-
Je něco špatně v tomto záznamu ?
Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines
K. Pivovarcikova, T. Pitra, R. Alaghehbandan, K. Buchova, P. Steiner, V. Hajkova, N. Ptakova, I. Subrt, J. Skopal, P. Svajdler, M. Farcas, M. Slisarenko, K. Michalova, A. Strakova Peterikova, M. Hora, M. Michal, O. Daum, M. Svajdler, O. Hes
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
Grantová podpora
Cooperatio Program
Univerzita Karlova v Praze
research area SURG
Univerzita Karlova v Praze
00669806
Institutional Research Fund FN
NLK
ProQuest Central
od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest)
od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2003-01-01 do Před 1 rokem
- MeSH
- dědičné nepolypózní kolorektální nádory * diagnóza genetika patologie MeSH
- karcinom z přechodných buněk * genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- mismatch repair endonukleáza PMS2 genetika MeSH
- MutL homolog 1 genetika MeSH
- nádory močového měchýře * MeSH
- oprava chybného párování bází DNA MeSH
- senioři MeSH
- urologie * MeSH
- zárodečné mutace MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Upper tract urothelial carcinoma (UTUC) is the third most common malignancy associated with Lynch syndrome (LS). The current European urology guidelines recommend screening for LS in patients with UTUC up to the age of 60 years. In this study, we examined a cohort of patients with UTUC for potential association with LS in order to establish the sensitivity of current guidelines in detecting LS. A total of 180 patients with confirmed diagnosis of UTUC were enrolled in the study during a 12-year period (2010-2022). Loss of DNA-mismatch repair proteins (MMRp) expression was identified in 15/180 patients (8.3%). Germline analysis was eventually performed in 8 patients confirming LS in 5 patients (2.8%), including 4 germline mutations in MSH6 and 1 germline mutation in MSH2. LS-related UTUC included 3 females and 2 males, with a mean age of 66.2 years (median 71 years, range 46-75 years). Four of five LS patients (all with MSH6 mutation) were older than 65 years (mean age 71.3, median 72 years). Our findings indicate that LS-associated UTUCs can occur in patients with LS older than 60 years. In contrast to previous studies which used mainly highly pre-selected populations with already diagnosed LS, the most frequent mutation in our cohort involved MSH6 gene. All MSH6 mutation carriers were > 65 years, and UTUC was the first LS manifestation in 2/4 patients. Using current screening guidelines, a significant proportion of patients with LS-associated UTUC may be missed. We suggest universal immunohistochemical MMRp screening for all UTUCs, regardless of age and clinical history.
Biopticka Laborator S R O Pilsen Czech Republic
Cytopathos S R O Bratislava Slovakia
Department of Urology Faculty of Medicine in Plzeň Charles University Prague Pilsen Czech Republic
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc24001153
- 003
- CZ-PrNML
- 005
- 20240213094407.0
- 007
- ta
- 008
- 240109s2023 gw f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1007/s00428-023-03626-2 $2 doi
- 035 __
- $a (PubMed)37612527
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a gw
- 100 1_
- $a Pivovarcikova, Kristyna $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic. pivovarcikovak@fnplzen.cz $u Biopticka Laborator S.R.O., Pilsen, Czech Republic. pivovarcikovak@fnplzen.cz $1 https://orcid.org/0000000295530105 $7 xx0233028
- 245 10
- $a Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines / $c K. Pivovarcikova, T. Pitra, R. Alaghehbandan, K. Buchova, P. Steiner, V. Hajkova, N. Ptakova, I. Subrt, J. Skopal, P. Svajdler, M. Farcas, M. Slisarenko, K. Michalova, A. Strakova Peterikova, M. Hora, M. Michal, O. Daum, M. Svajdler, O. Hes
- 520 9_
- $a Upper tract urothelial carcinoma (UTUC) is the third most common malignancy associated with Lynch syndrome (LS). The current European urology guidelines recommend screening for LS in patients with UTUC up to the age of 60 years. In this study, we examined a cohort of patients with UTUC for potential association with LS in order to establish the sensitivity of current guidelines in detecting LS. A total of 180 patients with confirmed diagnosis of UTUC were enrolled in the study during a 12-year period (2010-2022). Loss of DNA-mismatch repair proteins (MMRp) expression was identified in 15/180 patients (8.3%). Germline analysis was eventually performed in 8 patients confirming LS in 5 patients (2.8%), including 4 germline mutations in MSH6 and 1 germline mutation in MSH2. LS-related UTUC included 3 females and 2 males, with a mean age of 66.2 years (median 71 years, range 46-75 years). Four of five LS patients (all with MSH6 mutation) were older than 65 years (mean age 71.3, median 72 years). Our findings indicate that LS-associated UTUCs can occur in patients with LS older than 60 years. In contrast to previous studies which used mainly highly pre-selected populations with already diagnosed LS, the most frequent mutation in our cohort involved MSH6 gene. All MSH6 mutation carriers were > 65 years, and UTUC was the first LS manifestation in 2/4 patients. Using current screening guidelines, a significant proportion of patients with LS-associated UTUC may be missed. We suggest universal immunohistochemical MMRp screening for all UTUCs, regardless of age and clinical history.
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a senioři $7 D000368
- 650 12
- $a dědičné nepolypózní kolorektální nádory $x diagnóza $x genetika $x patologie $7 D003123
- 650 12
- $a karcinom z přechodných buněk $x genetika $7 D002295
- 650 12
- $a nádory močového měchýře $7 D001749
- 650 12
- $a urologie $7 D014572
- 650 _2
- $a MutL homolog 1 $x genetika $7 D000070957
- 650 _2
- $a mismatch repair endonukleáza PMS2 $x genetika $7 D000070976
- 650 _2
- $a zárodečné mutace $7 D018095
- 650 _2
- $a oprava chybného párování bází DNA $7 D053843
- 655 _2
- $a časopisecké články $7 D016428
- 700 1_
- $a Pitra, Tomas $u Department of Urology, Faculty of Medicine in Plzeň, Charles University in Prague, Pilsen, Czech Republic
- 700 1_
- $a Alaghehbandan, Reza $u Cleveland Clinic, Department of Anatomic Pathology, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland, OH, USA
- 700 1_
- $a Buchova, Karolina $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic
- 700 1_
- $a Steiner, Petr $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Hajkova, Veronika $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Ptakova, Nikola $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Subrt, Ivan $u Department of Medical Genetics, Faculty of Medicine in Plzeň, Charles University in Prague, Pilsen, Czech Republic
- 700 1_
- $a Skopal, Josef $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic
- 700 1_
- $a Svajdler, Peter $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Cytopathos S. R. O., Bratislava, Slovakia
- 700 1_
- $a Farcas, Mihaela $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Onco Team Diagnostic, Bucharest, Romania
- 700 1_
- $a Slisarenko, Maryna $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic
- 700 1_
- $a Michalova, Kvetoslava $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Strakova Peterikova, Andrea $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Hora, Milan $u Department of Urology, Faculty of Medicine in Plzeň, Charles University in Prague, Pilsen, Czech Republic
- 700 1_
- $a Michal, Michal $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Daum, Ondrej $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 700 1_
- $a Svajdler, Marian $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic $u Cytopathos S. R. O., Bratislava, Slovakia
- 700 1_
- $a Hes, Ondrej $u Šikl's Department of Pathology, The Faculty of Medicine and Faculty Hospital in Pilsen, Charles University, Alej Svobody 80, 304 60, Pilsen, Czech Republic $u Biopticka Laborator S.R.O., Pilsen, Czech Republic
- 773 0_
- $w MED00004660 $t Virchows Archiv $x 1432-2307 $g Roč. 483, č. 4 (2023), s. 517-526
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/37612527 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y - $z 0
- 990 __
- $a 20240109 $b ABA008
- 991 __
- $a 20240213094404 $b ABA008
- 999 __
- $a ok $b bmc $g 2049636 $s 1210847
- BAS __
- $a 3
- BAS __
- $a PreBMC-MEDLINE
- BMC __
- $a 2023 $b 483 $c 4 $d 517-526 $e 20230823 $i 1432-2307 $m Virchows Archiv $n Virchows Arch $x MED00004660
- GRA __
- $a Cooperatio Program $p Univerzita Karlova v Praze
- GRA __
- $a research area SURG $p Univerzita Karlova v Praze
- GRA __
- $a 00669806 $p Institutional Research Fund FN
- LZP __
- $a Pubmed-20240109
