دورية أكاديمية
أعرض في EDS

Next-Generation Sequencing of Matched Primary and Metastatic Rectal Adenocarcinomas Demonstrates Minimal Mutation Gain and Concordance to Colonic Adenocarcinomas.

التفاصيل البيبلوغرافية
العنوان: Next-Generation Sequencing of Matched Primary and Metastatic Rectal Adenocarcinomas Demonstrates Minimal Mutation Gain and Concordance to Colonic Adenocarcinomas.
المؤلفون: Crumley SM; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas., Pepper KL; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas., Phan AT; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas., Olsen RJ; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas., Schwartz MR; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas., Portier BP; From the Departments of Pathology and Genomic Medicine (Drs Crumley, Olsen, Schwartz, and Portier and Ms Pepper) and Oncology (Dr Phan), Houston Methodist Hospital, Houston, Texas.
المصدر: Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2016 Jun; Vol. 140 (6), pp. 529-35. Date of Electronic Publication: 2015 Nov 04.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE
أسماء مطبوعة: Publication: Northfield, Ill. : College of American Pathologists
Original Publication: Chicago, American Medical Assn.
مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Mutation*, Adenocarcinoma/*genetics , Colonic Neoplasms/*genetics , Rectal Neoplasms/*genetics, Adenocarcinoma/pathology ; Adenomatous Polyposis Coli Protein/genetics ; Cell Cycle Proteins/genetics ; Chromogranins/genetics ; Class I Phosphatidylinositol 3-Kinases ; Colonic Neoplasms/pathology ; F-Box Proteins/genetics ; F-Box-WD Repeat-Containing Protein 7 ; Female ; GTP Phosphohydrolases/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Male ; Membrane Proteins/genetics ; Middle Aged ; Phosphatidylinositol 3-Kinases/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Receptor, Fibroblast Growth Factor, Type 3/genetics ; Rectal Neoplasms/pathology ; Smad4 Protein/genetics ; Tumor Suppressor Protein p53/genetics ; Ubiquitin-Protein Ligases/genetics
مستخلص: Context: -Colorectal carcinoma is the third most common cause of cancer death in males and females in the United States. Rectal adenocarcinoma can have distinct therapeutic and surgical management from colonic adenocarcinoma owing to its location and anatomic considerations.
Objective: -To determine the oncologic driver mutations and better understand the molecular pathogenesis of rectal adenocarcinoma in relation to colon adenocarcinoma.
Design: -Next-generation sequencing was performed on 20 cases of primary rectal adenocarcinoma with a paired lymph node or solid organ metastasis by using an amplicon-based assay of more than 2800 Catalogue of Somatic Mutations in Cancer (COSMIC)-identified somatic mutations.
Results: -Next-generation sequencing data were obtained on both the primary tumor and metastasis from 16 patients. Most rectal adenocarcinoma cases demonstrated identical mutations in the primary tumor and metastasis (13 of 16, 81%). The mutations identified, listed in order of frequency, included TP53, KRAS, APC, FBXW7, GNAS, FGFR3, BRAF, NRAS, PIK3CA, and SMAD4.
Conclusions: -The somatic mutations identified in our rectal adenocarcinoma cohort showed a strong correlation to those previously characterized in colonic adenocarcinoma. In addition, most rectal adenocarcinomas harbored identical somatic mutations in both the primary tumor and metastasis. These findings demonstrate evidence that rectal adenocarcinoma follows a similar molecular pathogenesis as colonic adenocarcinoma and that sampling either the primary or metastatic lesion is valid for initial evaluation of somatic mutations and selection of possible targeted therapy.
المشرفين على المادة: 0 (APC protein, human)
0 (Adenomatous Polyposis Coli Protein)
0 (Cell Cycle Proteins)
0 (Chromogranins)
0 (F-Box Proteins)
0 (F-Box-WD Repeat-Containing Protein 7)
0 (FBXW7 protein, human)
0 (KRAS protein, human)
0 (Membrane Proteins)
0 (Smad4 Protein)
0 (TP53 protein, human)
0 (Tumor Suppressor Protein p53)
EC 2.3.2.27 (Ubiquitin-Protein Ligases)
EC 2.7.1.- (Phosphatidylinositol 3-Kinases)
EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases)
EC 2.7.1.137 (PIK3CA protein, human)
EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 3)
EC 2.7.11.1 (BRAF protein, human)
EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
EC 3.6.1.- (GNAS protein, human)
EC 3.6.1.- (GTP Phosphohydrolases)
EC 3.6.1.- (NRAS protein, human)
EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gs)
EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
تواريخ الأحداث: Date Created: 20151105 Date Completed: 20170223 Latest Revision: 20220331
رمز التحديث: 20240628
DOI: 10.5858/arpa.2015-0261-SA
PMID: 26536055
قاعدة البيانات: MEDLINE
الوصف
تدمد:1543-2165
DOI:10.5858/arpa.2015-0261-SA