scholarly journals SO-23 Prognostic impact of microsatellite instability/mismatch repair deficiency on patients with stage III colon cancer and stage IV colorectal cancers: Analysis of 42,984 patients in the National Cancer Database (NCDB)

2020 ◽  
Vol 31 ◽  
pp. S225
Author(s):  
M. Salem ◽  
A. Puccini ◽  
S. Trufan ◽  
R. Goldberg ◽  
W. Worrilow ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Stage Iv ◽  
Colorectal Cancers ◽  
Prognostic Impact ◽  
National Cancer Database ◽  
Mismatch Repair Deficiency ◽  
Stage Iii Colon Cancer ◽  
Repair Deficiency

scholarly journals Elevated MUC5AC expression is associated with mismatch repair deficiency and proximal tumor location but not with cancer progression in colon cancer

2020 ◽  
Author(s):  
Sebastian Dwertmann Rico ◽  
Doris Höflmayer ◽  
Franziska Büscheck ◽  
David Dum ◽  
Andreas M. Luebke ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Mismatch Repair ◽  
Cancer Progression ◽  
Strong Association ◽  
Tumor Location ◽  
Colorectal Cancers ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Cancer Aggressiveness ◽  
Rectal Cancers

AbstractMucin 5AC (MUC5AC) is a secreted gel-forming mucin expressed by several epithelia. In the colon, MUC5AC is expressed in scattered normal epithelial cells but can be abundant in colorectal cancers. To clarify the relationship of MUC5AC expression with parameters of tumor aggressiveness and mismatch repair deficiency (dMMR) in colorectal cancer, a tissue microarray containing 1812 colorectal cancers was analyzed by immunohistochemistry. MUC5AC expression was found in 261 (15.7%) of 1,667 analyzable colorectal cancers. MUC5AC expression strongly depended on the tumor location and gradually decreased from proximal (27.4% of cecum cancers) to distal (10.6% of rectal cancers; p < 0.0001). MUC5AC expression was also strongly linked to dMMR. dMMR was found in 21.3% of 169 cancers with MUC5AC positivity but in only 4.6% of 1051 cancers without detectable MUC5AC expression (p < 0.0001). A multivariate analysis showed that dMMR status and tumor localization predicted MUC5AC expression independently (p < 0.0001 each). MUC5AC expression was unrelated to pT and pN status. This also applied to the subgroups of 1136 proficient MMR (pMMR) and of 84 dMMR cancers. The results of our study show a strong association of MUC5AC expression with proximal and dMMR colorectal cancers. However, MUC5AC expression is unrelated to colon cancer aggressiveness.

scholarly journals Immunotherapy and metastatic colorectal cancers with microsatellite instability or mismatch repair deficiency

2019 ◽  
Vol 106 (2) ◽  
pp. 137-142 ◽  
Author(s):  
Romain Cohen ◽  
Anna Pellat ◽  
Hélène Boussion ◽  
Magali Svrcek ◽  
Daniel Lopez-Trabada ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Colorectal Cancers ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency

scholarly journals Genomic Profiling for KRAS, NRAS, BRAF, Microsatellite Instability, and Mismatch Repair Deficiency Among Patients With Metastatic Colon Cancer

2019 ◽  
pp. 1-9 ◽  
Author(s):  
Martin E. Gutierrez ◽  
Kristin S. Price ◽  
Richard B. Lanman ◽  
Rebecca J. Nagy ◽  
Irfan Shah ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
De Novo ◽  
The United States ◽  
Metastatic Colon Cancer ◽  
Mismatch Repair Deficiency ◽  
National Guidelines ◽  
Repair Deficiency ◽  
Biomarker Testing

PURPOSE Genomic testing is recognized in national guidelines as essential to guide appropriate therapy selection in metastatic colorectal cancer. Previous studies report adherence to testing guidelines is suboptimal, but current testing rates have not been assessed. This study reports testing rates in metastatic colon cancer (mCC) for guideline-recommended biomarkers in a US-based population. MATERIALS AND METHODS A retrospective review of data extracted from electronic medical records was performed to identify patients with pathologically confirmed mCC and describe patterns of guideline-aligned biomarker testing. Data were extracted from the electronic health records of 1,497 patients treated at 23 practices across the United States. Both community and academic centers were represented. RESULTS A total of 1,497 patients with mCC diagnosed between January 1, 2013 and December 31, 2017 were identified. Guideline-aligned biomarker testing rates for RAS, BRAF, and microsatellite instability/mismatch repair deficiency over this study period were 41%, 43%, and 51%, respectively. Patients were more likely to have guideline-aligned testing for RAS and BRAF if they were treated at an academic center, were diagnosed with de novo metastatic disease, and were female. In addition, patients < 65 years of age were more likely to have guideline-aligned RAS testing. Of the 177 patients (12% of cohort) who received anti–epidermal growth factor receptor therapy, only 50 (28%) had complete guideline-aligned biomarker testing. CONCLUSION Despite guideline recommendations and significant therapeutic implications, overall biomarker testing rates in mCC remain suboptimal. Adherence to guideline-recommended biomarker testing would potentially reduce exposure to expensive and ineffective therapies, resulting in improved patient outcomes.

scholarly journals RARE-23. NOVEL NF1 MUTATIONS IN TWO OCCURRENCES OF GLIOBLASTOMA MULTIFORM IN A PATIENT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii447-iii447
Author(s):  
Kaylyn Utley ◽  
Jens Reuter ◽  
Lei Li ◽  
Devon Evans ◽  
Jeffrey Florman ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Mismatch Repair ◽  
Stage Iv ◽  
Deficiency Syndrome ◽  
Genetic Profile ◽  
Molecular Testing ◽  
Mismatch Repair Deficiency ◽  
Cancer Predisposition Syndrome ◽  
Repair Deficiency ◽  
Constitutional Mismatch Repair Deficiency

Abstract Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare cancer predisposition syndrome in children. Its main associated tumor types include brain and CNS tumors, hematologic malignancies, intestinal polyps and colorectal tumors, and other malignancies. Tumor genesis within this population is highly complex and poorly understood. We describe a case of a patient with two occurrences of glioblastoma multiforme (GBM), each with unique NF1 mutations. The patient is a female with CMMRD who was first diagnosed with GBM of the right frontal lobe in 2015. She subsequently underwent gross total resection, radiation to the field and concomitant and maintenance therapy with Temozolomide and Everolimus, due to high suspicion for NF-1. Genetic studies didn’t show NF-1, instead revealing a diagnosis of CMMRD. Molecular testing of the GBM showed a high mutational burden and an NF1 mutation. Later, screening revealed stage IV colon cancer, for which she underwent subtotal colectomy, partial liver resection and chemotherapy. Molecular testing from the colon cancer found a hypermutant malignancy without mutations in NF1. Surveillance imaging detected a mass at the original site of her GBM, for which she had a resection. Notably, the genetic profile of the second tumor substantially different from the original tumor and the colon cancer sample, but had new mutations in NF-1. These findings highlight the significant variability in the genetic profiles of tumors in the context of CMMRD. It is also worth considering that NF1 is one of the first in a cascade of mutations leading to GBM in these patients.

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