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病例报告：小肠腺癌的分子特征与治疗选择

Case Report: Molecular Features and Treatment Options for Small Bowel Adenocarcinoma.

作者信息

Cordova-Delgado Miguel, Pizarro Gonzalo, Pinto Mauricio P, Herrera Maria Elisa, Garrido Marcelo

机构信息

Hematology and Oncology Department, Faculty of Medicine, Pontificia Universidad Católica de Chile (PUC), Santiago, Chile.

Faculty of Chemical and Pharmaceutical Sciences, Universidad de Chile, Santiago, Chile.

出版信息

Front Oncol. 2021 Mar 10;11:593561. doi: 10.3389/fonc.2021.593561. eCollection 2021.

DOI:10.3389/fonc.2021.593561
PMID:33777741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7987784/
Abstract

Small bowel adenocarcinoma (SBA) is a rare malignancy characterized by poor prognosis. Recent efforts have sought to elucidate the genetic landscape and the molecular drivers behind this disease. Herein, we report the main molecular alterations in two metastatic (stage IV) SBA patients. Interestingly, one of them had gene alterations that affected signaling pathways previously described for SBA. However, a second patient displayed previously unreported alterations in this particular tumor type. Based on these findings we discuss potential treatment options for patients affected by this rare, aggressive disease.

摘要

小肠腺癌（SBA）是一种预后较差的罕见恶性肿瘤。最近的研究致力于阐明这种疾病背后的基因图谱和分子驱动因素。在此，我们报告了两名转移性（IV期）SBA患者的主要分子改变。有趣的是，其中一名患者的基因改变影响了先前报道的SBA信号通路。然而，另一名患者在这种特定肿瘤类型中表现出先前未报道的改变。基于这些发现，我们讨论了受这种罕见侵袭性疾病影响的患者的潜在治疗选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08be/7987784/80a7ff491cc1/fonc-11-593561-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08be/7987784/822a80eb0c16/fonc-11-593561-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08be/7987784/80a7ff491cc1/fonc-11-593561-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08be/7987784/822a80eb0c16/fonc-11-593561-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08be/7987784/80a7ff491cc1/fonc-11-593561-g0002.jpg

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本文引用的文献

1
Anti-EGFR Therapy in Metastatic Small Bowel Adenocarcinoma: Myth or Reality?转移性小肠腺癌中的抗表皮生长因子受体治疗：神话还是现实？
Clin Med Insights Oncol. 2020 Aug 4;14:1179554920946693. doi: 10.1177/1179554920946693. eCollection 2020.
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Overcoming Resistance to Targeted Therapies in Gastrointestinal Cancers: Progress to Date and Progress to Come.克服胃肠道癌症中靶向治疗的耐药性：目前的进展和未来的进展。
Am Soc Clin Oncol Educ Book. 2020 May;40:161-173. doi: 10.1200/EDBK_280871.
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Erdafitinib: A novel therapy for FGFR-mutated urothelial cancer.
厄达替尼：一种用于治疗 FGFR 突变型尿路上皮癌的新型疗法。
Am J Health Syst Pharm. 2020 Feb 19;77(5):346-351. doi: 10.1093/ajhp/zxz329.
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PD-L1 in small bowel adenocarcinoma is associated with etiology and tumor-infiltrating lymphocytes, in addition to microsatellite instability.PD-L1 在小肠腺癌中与病因和肿瘤浸润淋巴细胞相关，此外还与微卫星不稳定性相关。
Mod Pathol. 2020 Jul;33(7):1398-1409. doi: 10.1038/s41379-020-0497-0. Epub 2020 Feb 17.
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Clinicopathological features and treatment outcomes of metastatic or locally unresectable small bowel adenocarcinoma.转移性或局部不可切除小肠腺癌的临床病理特征及治疗结果
J BUON. 2019 Nov-Dec;24(6):2539-2545.
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Small bowel adenocarcinoma: Results from a nationwide prospective ARCAD-NADEGE cohort study of 347 patients.小肠腺癌：一项针对347例患者的全国性前瞻性ARCAD-NADEGE队列研究结果
Int J Cancer. 2020 Aug 15;147(4):967-977. doi: 10.1002/ijc.32860. Epub 2020 Jan 22.
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Estimation of Percentage of Patients With Fibroblast Growth Factor Receptor Alterations Eligible for Off-label Use of Erdafitinib.成纤维细胞生长因子受体改变的患者适合使用厄达替尼进行标签外使用的比例估计。
JAMA Netw Open. 2019 Nov 1;2(11):e1916091. doi: 10.1001/jamanetworkopen.2019.16091.
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Efficacy of Pembrolizumab in Patients With Noncolorectal High Microsatellite Instability/Mismatch Repair-Deficient Cancer: Results From the Phase II KEYNOTE-158 Study.帕博利珠单抗治疗非结直肠癌高度微卫星不稳定/错配修复缺陷型癌症患者的疗效：来自 II 期 KEYNOTE-158 研究的结果。
J Clin Oncol. 2020 Jan 1;38(1):1-10. doi: 10.1200/JCO.19.02105. Epub 2019 Nov 4.
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Erdafitinib in Locally Advanced or Metastatic Urothelial Carcinoma.厄达替尼治疗局部晚期或转移性尿路上皮癌。
N Engl J Med. 2019 Jul 25;381(4):338-348. doi: 10.1056/NEJMoa1817323.
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Alterations in ERBB2 and BRCA and microsatellite instability as new personalized treatment options in small bowel carcinoma.ERBB2和BRCA的改变以及微卫星不稳定性作为小肠癌新的个性化治疗选择。
BMC Gastroenterol. 2019 Feb 4;19(1):21. doi: 10.1186/s12876-019-0942-z.