Cover Image

Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by numerous colorectal adenomas. In addition, FAP patients may develop extraintestinal manifestations. Several cases of hepatocellular aden...

Full description

Saved in:
Bibliographic Details
Main Authors: Tóth, Marcell (Author) , Kirchner, Martina (Author) , Longerich, Thomas (Author) , Stenzinger, Albrecht (Author) , Schirmacher, Peter (Author)
Format: Article (Journal)
Language:English
Published: 23 October 2023
In: Virchows Archiv
Year: 2023, Volume: 483, Issue: 6, Pages: ?
ISSN:1432-2307
DOI:10.1007/s00428-023-03680-w
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00428-023-03680-w
Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1007/s00428-023-03680-w
Get full text
Author Notes:Marcell Tóth, Martina Kirchner, Thomas Longerich, Albrecht Stenzinger, Peter Schirmacher

MARC

LEADER 00000caa a2200000 c 4500
001 1876777516
003 DE-627
005 20240307032137.0
007 cr uuu---uuuuu
008 231221s2023 xx |||||o 00| ||eng c
024 7 |a 10.1007/s00428-023-03680-w  |2 doi 
035 |a (DE-627)1876777516 
035 |a (DE-599)KXP1876777516 
035 |a (OCoLC)1425207976 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Tóth, Marcell  |d 1990-  |e VerfasserIn  |0 (DE-588)1171731361  |0 (DE-627)1040674186  |0 (DE-576)513819568  |4 aut 
245 1 0 |a Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas  |c Marcell Tóth, Martina Kirchner, Thomas Longerich, Albrecht Stenzinger, Peter Schirmacher 
264 1 |c 23 October 2023 
300 |a 9 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 21.12.2023 
520 |a Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by numerous colorectal adenomas. In addition, FAP patients may develop extraintestinal manifestations. Several cases of hepatocellular adenomas (HCA) detected accidentally in FAP patients have raised the so-far unsolved question of whether they represent a specific manifestation of FAP or a mere coincidence. To investigate the incidence of liver tumors in FAP patients, we analyzed our diagnostic database from 1991 to 2021. Among the 58 hepatic mass lesions identified, five HCAs occurring in three patients with FAP were identified, and comprehensive morphological, immunohistological, and molecular analysis employing targeted next-generation sequencing was conducted for characterization. The HCAs in this study showed no cytological or histological atypia. They displayed a diffuse, strong positivity for glutamine synthetase but no nuclear beta-catenin immunostaining. In two patients, the adenomas showed moderate immunoreactivity against serum amyloid A. Consistent with the diagnosis of FAP, molecular profiling revealed a pathogenic germline mutation of the APC gene in all analyzed adenomas as well as deleterious somatic second hits. All somatic mutations were localized between codons 1345 and 1577. No mutations were found in the catenin beta 1 gene. HCA in FAP patients can be a specific, although rare, neoplastic manifestation of this inborn disease and represents a distinct subgroup of HCAs. These benign tumors represent an important differential diagnosis for hepatic metastases in FAP patients and require adequate clinical and molecular (diagnostic) assessments for optimal patient guidance. 
650 4 |a Adenomatous polyposis coli gene 
650 4 |a Familial adenomatous polyposis 
650 4 |a Gene mutation 
650 4 |a Hepatocellular adenoma 
650 4 |a Liver tumor 
650 4 |a Molecular subtype 
700 1 |a Kirchner, Martina  |d 1973-  |e VerfasserIn  |0 (DE-588)1017178976  |0 (DE-627)676266363  |0 (DE-576)353239747  |4 aut 
700 1 |a Longerich, Thomas  |d 1974-  |e VerfasserIn  |0 (DE-588)128494514  |0 (DE-627)373916124  |0 (DE-576)297178059  |4 aut 
700 1 |a Stenzinger, Albrecht  |e VerfasserIn  |0 (DE-588)139606106  |0 (DE-627)703395238  |0 (DE-576)312432755  |4 aut 
700 1 |a Schirmacher, Peter  |d 1961-  |e VerfasserIn  |0 (DE-588)1020440112  |0 (DE-627)691221197  |0 (DE-576)360427448  |4 aut 
773 0 8 |i Enthalten in  |t Virchows Archiv  |d Berlin : Springer, 1847  |g 483(2023), 6, Seite ?  |h Online-Ressource  |w (DE-627)254910645  |w (DE-600)1463276-7  |w (DE-576)074754416  |x 1432-2307  |7 nnas  |a Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas 
773 1 8 |g volume:483  |g year:2023  |g number:6  |g pages:?  |g extent:9  |a Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas 
856 4 0 |u https://doi.org/10.1007/s00428-023-03680-w  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://link.springer.com/article/10.1007/s00428-023-03680-w  |x Verlag  |z kostenfrei  |3 Volltext 
951 |a AR 
992 |a 20231221 
993 |a Article 
994 |a 2023 
998 |g 1020440112  |a Schirmacher, Peter  |m 1020440112:Schirmacher, Peter  |d 910000  |d 912000  |e 910000PS1020440112  |e 912000PS1020440112  |k 0/910000/  |k 1/910000/912000/  |p 5  |y j 
998 |g 139606106  |a Stenzinger, Albrecht  |m 139606106:Stenzinger, Albrecht  |d 910000  |d 912000  |e 910000PS139606106  |e 912000PS139606106  |k 0/910000/  |k 1/910000/912000/  |p 4 
998 |g 128494514  |a Longerich, Thomas  |m 128494514:Longerich, Thomas  |d 910000  |d 912000  |e 910000PL128494514  |e 912000PL128494514  |k 0/910000/  |k 1/910000/912000/  |p 3 
998 |g 1017178976  |a Kirchner, Martina  |m 1017178976:Kirchner, Martina  |d 910000  |d 912000  |e 910000PK1017178976  |e 912000PK1017178976  |k 0/910000/  |k 1/910000/912000/  |p 2 
998 |g 1171731361  |a Tóth, Marcell  |m 1171731361:Tóth, Marcell  |d 910000  |d 912000  |e 910000PT1171731361  |e 912000PT1171731361  |k 0/910000/  |k 1/910000/912000/  |p 1  |x j 
999 |a KXP-PPN1876777516  |e 4442681767 
BIB |a Y 
SER |a journal 
JSO |a {"person":[{"display":"Tóth, Marcell","family":"Tóth","given":"Marcell","role":"aut"},{"display":"Kirchner, Martina","family":"Kirchner","role":"aut","given":"Martina"},{"family":"Longerich","display":"Longerich, Thomas","given":"Thomas","role":"aut"},{"family":"Stenzinger","display":"Stenzinger, Albrecht","given":"Albrecht","role":"aut"},{"display":"Schirmacher, Peter","family":"Schirmacher","role":"aut","given":"Peter"}],"origin":[{"dateIssuedKey":"2023","dateIssuedDisp":"23 October 2023"}],"note":["Gesehen am 21.12.2023"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"title":[{"title_sort":"Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas","title":"Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas"}],"language":["eng"],"name":{"displayForm":["Marcell Tóth, Martina Kirchner, Thomas Longerich, Albrecht Stenzinger, Peter Schirmacher"]},"physDesc":[{"extent":"9 S."}],"recId":"1876777516","relHost":[{"pubHistory":["1.1847 -"],"recId":"254910645","physDesc":[{"extent":"Online-Ressource"}],"id":{"eki":["254910645"],"issn":["1432-2307"],"zdb":["1463276-7"]},"corporate":[{"role":"isb","display":"European Society of Pathology"}],"disp":"Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomasVirchows Archiv","language":["eng"],"note":["Gesehen am 06.12.05"],"origin":[{"publisher":"Springer","dateIssuedKey":"1847","publisherPlace":"Berlin ; Heidelberg","dateIssuedDisp":"1847-"}],"title":[{"title":"Virchows Archiv","title_sort":"Virchows Archiv","subtitle":"official journal of the European Society of Pathology"}],"titleAlt":[{"title":"Archiv für pathologische Anatomie und Physiologie und für klinische Medicin"},{"title":"Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin"},{"title":"Virchows Archiv / A"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"part":{"issue":"6","extent":"9","volume":"483","year":"2023","text":"483(2023), 6, Seite ?","pages":"?"}}],"id":{"doi":["10.1007/s00428-023-03680-w"],"eki":["1876777516"]}} 
SRT |a TOTHMARCELINTEGRATED2320 

Similar Items