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Tytuł pozycji:

Unique clinicopathologic and genetic alteration features in early onset colorectal carcinoma compared with age-related colorectal carcinoma: a large cohort next generation sequence analysis.

Tytuł:
Unique clinicopathologic and genetic alteration features in early onset colorectal carcinoma compared with age-related colorectal carcinoma: a large cohort next generation sequence analysis.
Autorzy:
Escobar D; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Jones R; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Gao J; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Sun L; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Liao J; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA.
Yang GY; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA. Electronic address: .
Źródło:
Human pathology [Hum Pathol] 2020 Nov; Vol. 105, pp. 37-46. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Publication: Philadelphia, PA : W B Saunders
Original Publication: Philadelphia, W B. Saunders Co.
MeSH Terms:
DNA Mismatch Repair*
Microsatellite Instability*
Mutation*
Biomarkers, Tumor/*genetics
Colorectal Neoplasms/*genetics
Colorectal Neoplasms/*pathology
Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/analysis ; Chicago/epidemiology ; Class I Phosphatidylinositol 3-Kinases/genetics ; Colorectal Neoplasms/epidemiology ; Colorectal Neoplasms/therapy ; DNA Mutational Analysis ; DNA Repair Enzymes/analysis ; Female ; Genetic Predisposition to Disease ; High-Throughput Nucleotide Sequencing ; Humans ; Immunohistochemistry ; Male ; Phenotype ; Prognosis ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Young Adult ; beta Catenin/genetics
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Grant Information:
R01 CA104741 United States CA NCI NIH HHS; R01 CA164041 United States CA NCI NIH HHS; R01 DK107767 United States DK NIDDK NIH HHS; R01 CA172431 United States CA NCI NIH HHS; R01 CA137467 United States CA NCI NIH HHS
Contributed Indexing:
Keywords: CTNNB1; Clinicopathologic features; Early onset colorectal carcinoma; Genetic alterations; KRAS; NGS; PIK3CA
Substance Nomenclature:
0 (Biomarkers, Tumor)
0 (CTNNB1 protein, human)
0 (KRAS protein, human)
0 (beta Catenin)
EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases)
EC 2.7.1.137 (PIK3CA protein, human)
EC 2.7.11.1 (BRAF protein, human)
EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
EC 6.5.1.- (DNA Repair Enzymes)
Entry Date(s):
Date Created: 20200911 Date Completed: 20210329 Latest Revision: 20221003
Update Code:
20240105
PubMed Central ID:
PMC9526519
DOI:
10.1016/j.humpath.2020.08.002
PMID:
32916163
Czasopismo naukowe
Colorectal carcinoma (CRC) is the third most common cancer type in the United States. While the incidence of CRC is decreasing among an older population undergoing screening, the incidence of early-onset CRC is rising. There is a growing understanding that the molecular underpinnings of colorectal carcinoma vary by age. In this study, we report the genetic alterations and clinicopathologic features of a single-institution colorectal carcinoma cohort over a 2-year period using a next-generation sequencing (NGS) approach and microsatellite stability (MS) status determined by immunohistochemical staining. Forty cases were identified in an early-onset colorectal carcinoma cohort (eCRC) defined by age <40 years, and 164 cases were identified in an age-related colorectal carcinoma cohort (arCRC) defined by age >70 years. eCRC was more often-left-sided/rectal and more likely to present high rates of lymph node positivity with metastatic disease. NGS mutational analysis revealed distinct differences between eCRC and arCRC, with eCRC being characterized by low frequency of PIK3CA mutations, elevated frequency of KRAS and CTNNB1 mutations in microsatellite instability high tumors, and very low frequency of BRAF mutations.
(Copyright © 2020 Elsevier Inc. All rights reserved.)

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