دورية أكاديمية
A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy.
| العنوان: | A locally advanced colon cancer patient with Muir-Torre syndrome obtains durable response to neoadjuvant and adjuvant immunotherapy. |
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| المؤلفون: | Guo Z; Department of Thoracic Surgery, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.; Guangzhou Institute of Respiratory Disease and State Key Laboratory for Respiratory Disease, Guangzhou, China.; Research Center for Translational Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China., Cai Y; Department of Medical Oncology, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China., Yin W; Department of Thoracic Surgery, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.; Guangzhou Institute of Respiratory Disease and State Key Laboratory for Respiratory Disease, Guangzhou, China.; Research Center for Translational Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China., Huang J; Department of Gastrointestinal Surgery, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China. |
| المصدر: | Tumori [Tumori] 2023 Dec; Vol. 109 (6), pp. NP27-NP31. Date of Electronic Publication: 2023 Oct 26. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Sage Publications Country of Publication: United States NLM ID: 0111356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2038-2529 (Electronic) Linking ISSN: 03008916 NLM ISO Abbreviation: Tumori Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2018- : Thousand Oaks, CA : Sage Publications Original Publication: Milano : Istituto nazionale per lo studio e la cura dei tumori |
| مواضيع طبية MeSH: | Muir-Torre Syndrome*/genetics , Muir-Torre Syndrome*/pathology , Colonic Neoplasms*/drug therapy , Colonic Neoplasms*/genetics , Neoplasms, Second Primary*, Humans ; Adult ; Neoadjuvant Therapy ; Microsatellite Instability ; Follow-Up Studies ; Immune Checkpoint Inhibitors ; MutS Homolog 2 Protein/genetics ; DNA Mismatch Repair/genetics ; Immunotherapy |
| مستخلص: | Introduction: Muir-Torre syndrome, presenting with cutaneous tumors and visceral malignancies, is a variant of Lynch syndrome. The development of immune checkpoint inhibitors provided novel effective treatment options for metastatic colorectal cancer patients with microsatellite instability and deficient mismatch repair. However, the use of immune checkpoint inhibitors in neoadjuvant and adjuvant settings for patients with locally advanced colorectal cancer remains undefined because of limited follow-ups in current studies. Case Presentation: In the present study, we reported a 33-year-old Muri-Torre syndrome patient with stage ⅢC (c.T4N2M0) colorectal cancer and keratoacanthoma. Microsatellite instability / deficient mismatch repair, high tumor mutation burden, and MSH2 germline mutation were identified by next-generation sequencing. Pembrolizumab monotherapy was used as neoadjuvant treatment and the patient achieved a major pathological response. After surgical resection, pembrolizumab was continuously used in an adjuvant setting for 12 months. The patient remained disease-free with a durable disease-free survival for 44 months. To our knowledge, this is the first and longest follow-up study reporting pembrolizumab as a single-agent neoadjuvant therapy for locally advanced colon cancer. Conclusions: The results demonstrate promising performance in neoadjuvant and adjuvant settings. Further studies are needed to confirm its potential usefulness as an outcome measure in clinical practice. Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. |
| فهرسة مساهمة: | Keywords: Lynch syndrome; Muir-Torre syndrome; colorectal adenocarcinoma; deficient mismatch repair; microsatellite instability; pembrolizumab; tumor mutation burden |
| المشرفين على المادة: | 0 (Immune Checkpoint Inhibitors) EC 3.6.1.3 (MutS Homolog 2 Protein) |
| تواريخ الأحداث: | Date Created: 20231026 Date Completed: 20231206 Latest Revision: 20231206 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1177/03008916231204735 |
| PMID: | 37880978 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2038-2529 |
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| DOI: | 10.1177/03008916231204735 |