Clinical, Immunohistochemical, and Inflammatory Profiles in Colorectal Cancer: The Impact of MMR Deficiency

<b>Background/Objectives:</b> Mismatch repair (MMR) deficiency assessment has proven to be a valuable tool for prognostic evaluation and therapeutic management guidance in patients with colorectal cancer (CRC). Our study aimed to investigate the associations between MMR deficiency and a range of clinicopathological parameters. <b>Methods:</b> We conducted a retrospective observational study including 264 patients diagnosed with CRC, for whom immunohistochemical (IHC) data were available. Statistical analysis was performed using the Python 3.12.7 programming language within the Jupyter Notebook environment (Anaconda distribution). <b>Results:</b> MMR deficiency was identified in 18.18% of patients. It was significantly associated with younger age (<50 years), female sex, right-sided tumor location, poor tumor differentiation (G3), smoking, and loss of CDX2 expression (<i>p</i> < 0.001). MLH1 and PMS2 were the most frequently affected proteins, with concurrent loss in 77.08% of MMR-deficient cases. Loss of MLH1 expression correlated with female sex (<i>p</i> = 0.004), right-sided location (<i>p</i> < 0.001), poor differentiation (<i>p</i> < 0.001), and loss of CDX2 expression (<i>p</i> < 0.001). Additionally, the loss of PMS2 expression was associated with female sex (<i>p</i> = 0.015), right-sided tumor location (<i>p</i> = 0.003), and poor differentiation (<i>p</i> < 0.001). No significant associations were identified between MMR status and tumor stage, histological subtype, PLR, or NLR values. <b>Conclusions:</b> Gaining deeper insights into the clinical relevance of MMR status in CRC could contribute to improved testing rates and support the design of tailored management strategies that address the specific biological features of these tumors.

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Journal
Diagnostics
Published
2025-08-25
DOI
https://doi.org/10.3390/diagnostics15172141
Citations
2
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
2.94
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article

Clinical, Immunohistochemical, and Inflammatory Profiles in Colorectal Cancer: The Impact of MMR Deficiency

Alina Elena Barbu, Carmen C. Diaconu, Cristina Mambet, Camelia Cristina Diaconu et al.
2 citations
Diagnostics
Genetic factors in colorectal cancer
2.94
article

Clinical, Immunohistochemical, and Inflammatory Profiles in Colorectal Cancer: The Impact of MMR Deficiency

Alina Elena Barbu, Carmen C. Diaconu, Cristina Mambet, Camelia Cristina Diaconu, Coralia Bleoţu, Valentin Enache, Gina Gheorghe, Vlad Ionescu, Matei Răzvan Bratu, Teodor Florin Georgescu, Ninel Iacobus Antonie, Ioana Alexandra Baban
article en
2 citations

Abstract

<b>Background/Objectives:</b> Mismatch repair (MMR) deficiency assessment has proven to be a valuable tool for prognostic evaluation and therapeutic management guidance in patients with colorectal cancer (CRC). Our study aimed to investigate the associations between MMR deficiency and a range of clinicopathological parameters. <b>Methods:</b> We conducted a retrospective observational study including 264 patients diagnosed with CRC, for whom immunohistochemical (IHC) data were available. Statistical analysis was performed using the Python 3.12.7 programming language within the Jupyter Notebook environment (Anaconda distribution). <b>Results:</b> MMR deficiency was identified in 18.18% of patients. It was significantly associated with younger age (<50 years), female sex, right-sided tumor location, poor tumor differentiation (G3), smoking, and loss of CDX2 expression (<i>p</i> < 0.001). MLH1 and PMS2 were the most frequently affected proteins, with concurrent loss in 77.08% of MMR-deficient cases. Loss of MLH1 expression correlated with female sex (<i>p</i> = 0.004), right-sided location (<i>p</i> < 0.001), poor differentiation (<i>p</i> < 0.001), and loss of CDX2 expression (<i>p</i> < 0.001). Additionally, the loss of PMS2 expression was associated with female sex (<i>p</i> = 0.015), right-sided tumor location (<i>p</i> = 0.003), and poor differentiation (<i>p</i> < 0.001). No significant associations were identified between MMR status and tumor stage, histological subtype, PLR, or NLR values. <b>Conclusions:</b> Gaining deeper insights into the clinical relevance of MMR status in CRC could contribute to improved testing rates and support the design of tailored management strategies that address the specific biological features of these tumors.

DiagnosticsVol. 15(17)
University of Bucharest (RO), Carol Davila University of Medicine and Pharmacy (RO), Clinical Emergency Hospital Bucharest (RO), Academia Oamenilor de Știință din România (RO), Emergency University (US), Romanian Academy (RO)
Openalex Percentile: Top 8%
Genetic factors in colorectal cancer
2.94
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