Low-Pass Genomic Sequencing Reveals Novel Subtypes of Pancreatic Cystic Neoplasms

Background Over the years, the detection rate of pancreatic cystic neoplasms (PCNs) has significantly increased; however, the differential diagnosis and identification of high-risk PCNs remain challenging. We sought to investigate whether chromosomal instability (CIN) features in cell-free DNA in the cystic fluid of PCNs could help to identify high-risk PCNs. Methods Pancreatic cystic fluid samples from 102 patients with PCNs were intraoperatively collected for detection of CIN using an ultrasensitive chromosomal aneuploidy detector. Clinical and imaging data were retrospectively collected, and statistical analysis was performed to assess the potential role of CIN in clinical practice. Results CIN was investigated in a total of 100 patients. Sixteen of 26 serous cystic cystadenomas (SCAs) harbored deletions of chr3p and/or chr6p, whereas low rates of CIN were detected in mucinous cystic neoplasms. Most malignant PCNs presented with more than one type of CIN; amplification of chr1q and chr8q found in nine and seven of 11 malignant PCNs (81.8% and 63.6%), respectively, could aid in distinguishing high-risk IPMNs from low-risk ones, with a higher sensitivity than imaging. A combination of the mural nodule imaging feature and amplification of chr1q and chr8q achieved a sensitivity of 70.0% and a specificity of 82.4% in identifying high-risk IPMNs. Conclusions Our work revealed the distinct CIN signature of different types of PCNs. Deletions of chr3p and chr6p defined a subtype of SCAs. Gains of chr1q and chr8q were associated with insidious malignant PCNs and helped identify high-risk IPMNs..

Medienart:

E-Artikel

Erscheinungsjahr:

2023

Erschienen:

2023

Enthalten in:

Zur Gesamtaufnahme - volume:30

Enthalten in:

Annals of surgical oncology - 30(2023), 9 vom: 30. Mai, Seite 5804-5812

Sprache:

Englisch

Beteiligte Personen:

Ye, Mao [VerfasserIn]
Zhang, Bo [VerfasserIn]
Han, Xu [VerfasserIn]
Wei, Xiaobao [VerfasserIn]
Wang, Yangyang [VerfasserIn]
Cao, Wanyue [VerfasserIn]
Wu, Jiangchao [VerfasserIn]
Chen, Cao [VerfasserIn]
Sun, Xu [VerfasserIn]
Sun, Ke [VerfasserIn]
Li, Haijun [VerfasserIn]
Zhang, Qi [VerfasserIn]
Liang, Tingbo [VerfasserIn]

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Volltext [lizenzpflichtig]

Anmerkungen:

© Society of Surgical Oncology 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

doi:

10.1245/s10434-023-13676-0

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

OLC2144896763

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