Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix.

doi:10.1073/pnas.2321898121

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Article

Integrated mutational landscape analysis of poorly differentiated high-grade neuroendocrine carcinoma of the uterine cervix.

Proceedings of the National Academy of Sciences of the United States of America - 23 Apr 2024

Bellone Stefania, Jeong Kyungjo, Halle Mari Kyllesø, Krakstad Camilla, McNamara Blair, Greenman Michelle, Mutlu Levent, Demirkiran Cem, Hartwich Tobias Max Philipp, Yang-Hartwich Yang, Zipponi Margherita, Buza Natalia, Hui Pei, Raspagliesi Francesco, Lopez Salvatore, Paolini Biagio, Milione Massimo, Perrone Emanuele, Scambia Giovanni, Altwerger Gary, Ravaggi Antonella, Bignotti Eliana, Huang Gloria S, Andikyan Vaagn, Clark Mitchell, Ratner Elena, Azodi Masoud, Schwartz Peter E, Quick Charles M, Angioli Roberto, Terranova Corrado, Zaidi Samir, Nandi Shuvro, Alexandrov Ludmil B, Siegel Eric R, Choi Jungmin, Schlessinger Joseph, Santin Alessandro D

Abstract excerpt

High-grade neuroendocrine cervical cancers (NETc) are exceedingly rare, highly aggressive tumors. We analyzed 64 NETc tumor samples by whole-exome sequencing (WES). Human papillomavirus DNA was detected in 65.6% (42/64) of the tumors. Recurrent mutations were identified in PIK3CA, KMT2D/MLL2, K-RAS, ARID1A, NOTCH2, and RPL10. The top mutated genes included RB1, ARID1A, PTEN, KMT2D/MLL2, and WDFY3, a gene not yet...

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Identifiers

PMID: 38625939
DOI: 10.1073/pnas.2321898121
PMCID: PMC11046577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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