Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions. / Rift, Charlotte Vestrup; Melchior, Linea Cecilie; Kovacevic, Bojan; Klausen, Pia; Toxværd, Anders; Grossjohann, Hanne; Karstensen, John Gásdal; Brink, Lene; Hassan, Hazem; Kalaitzakis, Evangelos; Storkholm, Jan; Scheie, David; Hansen, Carsten Palnæs; Lund, Eva Løbner; Vilmann, Peter; Hasselby, Jane Preuss.

I: Gastrointestinal Endoscopy, Bind 97, Nr. 1, 2023, s. 50-58.e4.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Rift, CV, Melchior, LC, Kovacevic, B, Klausen, P, Toxværd, A, Grossjohann, H, Karstensen, JG, Brink, L, Hassan, H, Kalaitzakis, E, Storkholm, J, Scheie, D, Hansen, CP, Lund, EL, Vilmann, P & Hasselby, JP 2023, 'Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions', Gastrointestinal Endoscopy, bind 97, nr. 1, s. 50-58.e4. https://doi.org/10.1016/j.gie.2022.08.008

APA

Rift, C. V., Melchior, L. C., Kovacevic, B., Klausen, P., Toxværd, A., Grossjohann, H., Karstensen, J. G., Brink, L., Hassan, H., Kalaitzakis, E., Storkholm, J., Scheie, D., Hansen, C. P., Lund, E. L., Vilmann, P., & Hasselby, J. P. (2023). Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions. Gastrointestinal Endoscopy, 97(1), 50-58.e4. https://doi.org/10.1016/j.gie.2022.08.008

Vancouver

Rift CV, Melchior LC, Kovacevic B, Klausen P, Toxværd A, Grossjohann H o.a. Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions. Gastrointestinal Endoscopy. 2023;97(1):50-58.e4. https://doi.org/10.1016/j.gie.2022.08.008

Author

Rift, Charlotte Vestrup ; Melchior, Linea Cecilie ; Kovacevic, Bojan ; Klausen, Pia ; Toxværd, Anders ; Grossjohann, Hanne ; Karstensen, John Gásdal ; Brink, Lene ; Hassan, Hazem ; Kalaitzakis, Evangelos ; Storkholm, Jan ; Scheie, David ; Hansen, Carsten Palnæs ; Lund, Eva Løbner ; Vilmann, Peter ; Hasselby, Jane Preuss. / Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions. I: Gastrointestinal Endoscopy. 2023 ; Bind 97, Nr. 1. s. 50-58.e4.

Bibtex

@article{9e64d1a355cf463a85a71380f6bac058,

title = "Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions",

abstract = "Background and Aims: Recent advances have introduced molecular subtyping of pancreatic cystic lesions (PCLs) as a possible amendment to the diagnostic algorithm. The study evaluated the feasibility and diagnostic accuracy of molecular analysis and subtyping of PCLs using the recently introduced EUS-guided through-the-needle-biopsy (TTNB) sampling. Methods: We prospectively included 101 patients in the study who presented with PCLs >15 mm in the largest cross-section. EUS-guided TTNB samples were obtained by a micro-biopsy forceps introduced through a 19-gauge needle. The TTNB samples were analyzed by next-generation sequencing (NGS) for point mutations in tumor suppressors and oncogenes using a 51-gene customized hotspot panel. Sensitivity and specificity were calculated with the histologic diagnosis as reference. Results: After initial microscopic evaluation of the samples, 91 patients had residual TTNB samples available for NGS. Of these, 49 harbored mutations, most frequently in KRAS and GNAS, reflecting an excess frequency of intraductal papillary mucinous neoplasms (IPMNs) in the study population. A sensitivity and specificity of 83.7% (95% confidence interval [CI], 70.3-92.7) and 81.8% (95% CI, 48.2-97.7), respectively, were demonstrated for the diagnosis of a mucinous cyst and 87.2% (95% CI, 74.2-95.2) and 84.6% (95% CI, 54.5-98.1) for the diagnosis of an IPMN. Conclusions: Thus, molecular analysis of TTNB samples by NGS has high sensitivity and specificity for diagnosing mucinous cysts and IPMNs. Although the procedure comes with a risk of adverse events of 9.9%, TTNB samples are a robust alternative to cyst fluid for a combined histologic and molecular diagnosis of PCLs. (Clinical trial registration number: NCT03578445.)",

author = "Rift, {Charlotte Vestrup} and Melchior, {Linea Cecilie} and Bojan Kovacevic and Pia Klausen and Anders Toxv{\ae}rd and Hanne Grossjohann and Karstensen, {John G{\'a}sdal} and Lene Brink and Hazem Hassan and Evangelos Kalaitzakis and Jan Storkholm and David Scheie and Hansen, {Carsten Paln{\ae}s} and Lund, {Eva L{\o}bner} and Peter Vilmann and Hasselby, {Jane Preuss}",

note = "Publisher Copyright: {\textcopyright} 2023 American Society for Gastrointestinal Endoscopy",

year = "2023",

doi = "10.1016/j.gie.2022.08.008",

language = "English",

volume = "97",

pages = "50--58.e4",

journal = "Gastrointestinal Endoscopy",

issn = "0016-5107",

publisher = "Mosby Inc.",

number = "1",

}

RIS

TY - JOUR

T1 - Targeted next-generation sequencing of EUS-guided through-the-needle-biopsy sampling from pancreatic cystic lesions

AU - Rift, Charlotte Vestrup

AU - Melchior, Linea Cecilie

AU - Kovacevic, Bojan

AU - Klausen, Pia

AU - Toxværd, Anders

AU - Grossjohann, Hanne

AU - Karstensen, John Gásdal

AU - Brink, Lene

AU - Hassan, Hazem

AU - Kalaitzakis, Evangelos

AU - Storkholm, Jan

AU - Scheie, David

AU - Hansen, Carsten Palnæs

AU - Lund, Eva Løbner

AU - Vilmann, Peter

AU - Hasselby, Jane Preuss

PY - 2023

Y1 - 2023

N2 - Background and Aims: Recent advances have introduced molecular subtyping of pancreatic cystic lesions (PCLs) as a possible amendment to the diagnostic algorithm. The study evaluated the feasibility and diagnostic accuracy of molecular analysis and subtyping of PCLs using the recently introduced EUS-guided through-the-needle-biopsy (TTNB) sampling. Methods: We prospectively included 101 patients in the study who presented with PCLs >15 mm in the largest cross-section. EUS-guided TTNB samples were obtained by a micro-biopsy forceps introduced through a 19-gauge needle. The TTNB samples were analyzed by next-generation sequencing (NGS) for point mutations in tumor suppressors and oncogenes using a 51-gene customized hotspot panel. Sensitivity and specificity were calculated with the histologic diagnosis as reference. Results: After initial microscopic evaluation of the samples, 91 patients had residual TTNB samples available for NGS. Of these, 49 harbored mutations, most frequently in KRAS and GNAS, reflecting an excess frequency of intraductal papillary mucinous neoplasms (IPMNs) in the study population. A sensitivity and specificity of 83.7% (95% confidence interval [CI], 70.3-92.7) and 81.8% (95% CI, 48.2-97.7), respectively, were demonstrated for the diagnosis of a mucinous cyst and 87.2% (95% CI, 74.2-95.2) and 84.6% (95% CI, 54.5-98.1) for the diagnosis of an IPMN. Conclusions: Thus, molecular analysis of TTNB samples by NGS has high sensitivity and specificity for diagnosing mucinous cysts and IPMNs. Although the procedure comes with a risk of adverse events of 9.9%, TTNB samples are a robust alternative to cyst fluid for a combined histologic and molecular diagnosis of PCLs. (Clinical trial registration number: NCT03578445.)

AB - Background and Aims: Recent advances have introduced molecular subtyping of pancreatic cystic lesions (PCLs) as a possible amendment to the diagnostic algorithm. The study evaluated the feasibility and diagnostic accuracy of molecular analysis and subtyping of PCLs using the recently introduced EUS-guided through-the-needle-biopsy (TTNB) sampling. Methods: We prospectively included 101 patients in the study who presented with PCLs >15 mm in the largest cross-section. EUS-guided TTNB samples were obtained by a micro-biopsy forceps introduced through a 19-gauge needle. The TTNB samples were analyzed by next-generation sequencing (NGS) for point mutations in tumor suppressors and oncogenes using a 51-gene customized hotspot panel. Sensitivity and specificity were calculated with the histologic diagnosis as reference. Results: After initial microscopic evaluation of the samples, 91 patients had residual TTNB samples available for NGS. Of these, 49 harbored mutations, most frequently in KRAS and GNAS, reflecting an excess frequency of intraductal papillary mucinous neoplasms (IPMNs) in the study population. A sensitivity and specificity of 83.7% (95% confidence interval [CI], 70.3-92.7) and 81.8% (95% CI, 48.2-97.7), respectively, were demonstrated for the diagnosis of a mucinous cyst and 87.2% (95% CI, 74.2-95.2) and 84.6% (95% CI, 54.5-98.1) for the diagnosis of an IPMN. Conclusions: Thus, molecular analysis of TTNB samples by NGS has high sensitivity and specificity for diagnosing mucinous cysts and IPMNs. Although the procedure comes with a risk of adverse events of 9.9%, TTNB samples are a robust alternative to cyst fluid for a combined histologic and molecular diagnosis of PCLs. (Clinical trial registration number: NCT03578445.)

UR - http://www.scopus.com/inward/record.url?scp=85138649090&partnerID=8YFLogxK

U2 - 10.1016/j.gie.2022.08.008

DO - 10.1016/j.gie.2022.08.008

M3 - Journal article

C2 - 35964683

AN - SCOPUS:85138649090

VL - 97

SP - 50-58.e4

JO - Gastrointestinal Endoscopy

JF - Gastrointestinal Endoscopy

SN - 0016-5107

IS - 1

ER -

ID: 365832501

Institut for Klinisk Medicin