Correlation between p53 immunoexpression and TP53 mutation
status in extrapulmonary small cell neuroendocrine carcinomas
and its association with patient survival

J 2025

Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival

PAVLICKOVA, Klara; Jan HOJNY; Petr WALDAUF; Pavel DUNDR; Nikola HAJKOVA et al.

Základní údaje

Originální název

Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival

Autoři

Vydání

Virchows Archiv, New York, Springer, 2025, 0945-6317

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.100 v roce 2024

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/25:00140584

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Extrapulmonary small cell neuroendocrine carcinoma; TP53 molecular analysis; p53 immunohistochemical analysis; Next generation sequencing

Štítky

14110112, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 21. 1. 2026 13:36, Mgr. Tereza Miškechová

Anotace

V originále

Extrapulmonary small cell neuroendocrine carcinoma (EP-SCNC) is a rare malignancy with a poor prognosis. Despite its morphological similarity to lung small cell carcinomas, its oncogenesis remains uncertain. One hundred and seventy-one EP-SCNC were enrolled in a multicenter study, and all tissue samples underwent an immunohistochemical p53 analysis. One hundred twenty-five samples were molecularly analyzed using next-generation sequencing (NGS), comprising DNA and RNA analysis. p53 normal/wild type expression was detected in 68 cases (39.8%), whereas aberrant expression was detected in 103 cases (60.2%). Molecular TP53 alteration was detected in 92 out of 125 tumors (73.6%). The TP53 mutation was shown to be prognostic and associated with shorter overall survival (p = 0.041). The multivariate analysis of p53 and TP53 mutational status found that it impacted overall survival relative to distinct sites of tumor locations (p = 0.004 and p = 0.001, respectively). Age did not influenced survival in the multivariate analysis of p53 and TP53 (p = 0.002; p < 0.001 resp.). Among tumors with paired immunohistochemical and molecular results, 108 exhibited concordance between the immunohistochemical and molecular analysis, whereas 17 were discordant. Accordingly, p53 aberrant expression was tightly associated with a TP53 mutation (p < 0.001). In discordant cases, molecular analysis revealed no alteration in three tumors with p53 overexpression. In contrast, in 14 tumors with wild-type p53 expression, TP53 genetic alteration was detected. Possible causes of discordance are discussed in this manuscript. Furthermore, the incidence of aberrant p53 expression / TP53 molecular alteration was noticeably lower in EP-SCNC than in small-cell lung carcinomas. Therefore, in EP-SCNC, other driver mutations should be sought since personalized therapy can improve patient prognosis.

Návaznosti

90233, velká výzkumná infrastruktura

Název: BBMRI.cz IV

Citovat

PAVLICKOVA, Klara; Jan HOJNY; Petr WALDAUF; Pavel DUNDR; Nikola HAJKOVA; Marian SVAJDLER; Pavel FABIAN; Iva ZAMBO; Miroslava FLIDROVA; Jan LACO; Helena HORNYCHOVA; Patricie DELONGOVA; Jozef SKARDA; Jan HRUDKA a Radoslav MATEJ. Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival. Virchows Archiv. New York: Springer, 2025, roč. 487, č. 3, s. 557-564. ISSN 0945-6317. Dostupné z: https://doi.org/10.1007/s00428-025-04024-6.

@article{2474624,
   author = {Pavlickova, Klara and Hojny, Jan and Waldauf, Petr and Dundr, Pavel and Hajkova, Nikola and Svajdler, Marian and Fabian, Pavel and Zambo, Iva and Flidrova, Miroslava and Laco, Jan and Hornychova, Helena and Delongova, Patricie and Skarda, Jozef and Hrudka, Jan and Matej, Radoslav},
   article_location = {New York},
   article_number = {3},
   doi = {https://doi.org/10.1007/s00428-025-04024-6},
   keywords = {Extrapulmonary small cell neuroendocrine carcinoma; TP53 molecular analysis; p53 immunohistochemical analysis; Next generation sequencing},
   language = {eng},
   issn = {0945-6317},
   journal = {Virchows Archiv},
   title = {Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival},
   url = {https://link.springer.com/article/10.1007/s00428-025-04024-6},
   volume = {487},
   year = {2025}
}

TY  - JOUR
ID  - 2474624
AU  - Pavlickova, Klara - Hojny, Jan - Waldauf, Petr - Dundr, Pavel - Hajkova, Nikola - Svajdler, Marian - Fabian, Pavel - Zambo, Iva - Flidrova, Miroslava - Laco, Jan - Hornychova, Helena - Delongova, Patricie - Skarda, Jozef - Hrudka, Jan - Matej, Radoslav
PY  - 2025
TI  - Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival
JF  - Virchows Archiv
VL  - 487
IS  - 3
SP  - 557-564
EP  - 557-564
PB  - Springer
SN  - 09456317
KW  - Extrapulmonary small cell neuroendocrine carcinoma
KW  - TP53 molecular analysis
KW  - p53 immunohistochemical analysis
KW  - Next generation sequencing
UR  - https://link.springer.com/article/10.1007/s00428-025-04024-6
N2  - Extrapulmonary small cell neuroendocrine carcinoma (EP-SCNC) is a rare malignancy with a poor prognosis. Despite its morphological similarity to lung small cell carcinomas, its oncogenesis remains uncertain. One hundred and seventy-one EP-SCNC were enrolled in a multicenter study, and all tissue samples underwent an immunohistochemical p53 analysis. One hundred twenty-five samples were molecularly analyzed using next-generation sequencing (NGS), comprising DNA and RNA analysis. p53 normal/wild type expression was detected in 68 cases (39.8%), whereas aberrant expression was detected in 103 cases (60.2%). Molecular TP53 alteration was detected in 92 out of 125 tumors (73.6%). The TP53 mutation was shown to be prognostic and associated with shorter overall survival (p = 0.041). The multivariate analysis of p53 and TP53 mutational status found that it impacted overall survival relative to distinct sites of tumor locations (p = 0.004 and p = 0.001, respectively). Age did not influenced survival in the multivariate analysis of p53 and TP53 (p = 0.002; p < 0.001 resp.). Among tumors with paired immunohistochemical and molecular results, 108 exhibited concordance between the immunohistochemical and molecular analysis, whereas 17 were discordant. Accordingly, p53 aberrant expression was tightly associated with a TP53 mutation (p < 0.001). In discordant cases, molecular analysis revealed no alteration in three tumors with p53 overexpression. In contrast, in 14 tumors with wild-type p53 expression, TP53 genetic alteration was detected. Possible causes of discordance are discussed in this manuscript. Furthermore, the incidence of aberrant p53 expression / TP53 molecular alteration was noticeably lower in EP-SCNC than in small-cell lung carcinomas. Therefore, in EP-SCNC, other driver mutations should be sought since personalized therapy can improve patient prognosis.
ER  -

PAVLICKOVA, Klara; Jan HOJNY; Petr WALDAUF; Pavel DUNDR; Nikola HAJKOVA; Marian SVAJDLER; Pavel FABIAN; Iva ZAMBO; Miroslava FLIDROVA; Jan LACO; Helena HORNYCHOVA; Patricie DELONGOVA; Jozef SKARDA; Jan HRUDKA a Radoslav MATEJ. Correlation between p53 immunoexpression and TP53 mutation status in extrapulmonary small cell neuroendocrine carcinomas and its association with patient survival. \textit{Virchows Archiv}. New York: Springer, 2025, roč.~487, č.~3, s.~557-564. ISSN~0945-6317. Dostupné z: https://doi.org/10.1007/s00428-025-04024-6.

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