胰腺导管腺癌液体活检KRAS突变检测

IF 29.5 1区医学 Q1 HEMATOLOGY

Journal of Hematology & Oncology Pub Date : 2025-04-17 DOI:10.1186/s13045-025-01696-0

Mahmoud Yousef, Abdelrahman Yousef, Mark W. Hurd, Ashwathy Pillai, Saikat Chowdhury, Rebecca Snyder, Mark Knafl, Ryan L. Lewis, Paul M. Roy, Mohammad Fanaeian, Sali Albarouki, Luca F. Castelnovo, Jennifer Peterson, Brandon G. Smaglo, Robert A. Wolff, Shubham Pant, Jason Willis, Ryan Huey, Michael Overman, Ching-Wei Tzeng, Michael P. Kim, Naruhiko Ikoma, Jess E. Maxwell, Matthew H. G. Katz, Huamin Wang, Anirban Maitra, Eugene Koay, Ethan B. Ludmir, Anthony Chen, Camila Lopez, Haoqiang Ying, John Paul Shen, Dan Zhao

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引用次数: 0

摘要

液体活检（LB）在胰腺导管腺癌（PDAC）中的临床应用仍未得到充分研究。我们对311例非肿瘤组织的PDAC患者进行了单机构队列研究，发现81.2%的转移性病例（N = 186）阳性，52.4%的局部疾病（N = 43）阳性。64.6% （N = 148）的转移性病例检测到KRAS突变，16% （N = 13）的局限性疾病检测到KRAS突变。LB阳性，尤其是KRAS突变检测，与转移性PDAC患者较差的总生存期（OS）相关（中位14.5 vs. 31.3个月，HR = 2.7, 95%CI = 1.7-4.3, P < 0.0001）。KRAS和TP53突变的阳性一致性率在转移性疾病中分别为63%和68%，而在局限性疾病中分别为7% （KRAS）和33% （TP53）。在41例接受连续液体活检检查的患者中，25%的患者在最初的阴性结果后检测为阳性。在58.5%的PDAC患者中，LB检测到治疗上可靶向的突变，并与OS相关。

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KRAS mutation detection by liquid biopsy for pancreatic ductal adenocarcinoma

The clinical utility of liquid biopsy (LB) for pancreatic ductal adenocarcinoma (PDAC) remain understudied. Our single-institution cohort of 311 PDAC patients with non-tumor tissues informed LB found 81.2% positivity (N = 186) in metastatic cases and in 52.4% (N = 43) of localized disease. KRAS mutations were detected in 64.6% (N = 148) of metastatic cases and 16% (N = 13) for localized disease. Positive LB, especially KRAS mutation detection, is associated with worse overall survival (OS) in metastatic PDAC (median 14.5 vs. 31.3 months, HR = 2.7, 95%CI = 1.7–4.3, P < 0.0001). The positive concordance rates of KRAS and TP53 mutations were 63% and 68% in metastatic disease but only 7% (KRAS) and 33% (TP53) in localized disease, respectively. Among the 41 patients who underwent serial liquid biopsy testing, 25% tested positive after an initial negative result. LB detects therapeutically targetable mutations in 58.5% of PDAC patients and is associated with OS.

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来源期刊

Journal of Hematology & Oncology 医学-血液学

CiteScore

48.10

自引率

2.10%

发文量

169

审稿时长

6-12 weeks

期刊介绍： The Journal of Hematology & Oncology, an open-access journal, publishes high-quality research covering all aspects of hematology and oncology, including reviews and research highlights on "hot topics" by leading experts. Given the close relationship and rapid evolution of hematology and oncology, the journal aims to meet the demand for a dedicated platform for publishing discoveries from both fields. It serves as an international platform for sharing laboratory and clinical findings among laboratory scientists, physician scientists, hematologists, and oncologists in an open-access format. With a rapid turnaround time from submission to publication, the journal facilitates real-time sharing of knowledge and new successes.