Expresión génica de BAP1 y PCLO e infiltración inmune en el carcinoma hepatocelular.

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Title: Expresión génica de BAP1 y PCLO e infiltración inmune en el carcinoma hepatocelular.
Alternate Title: Expression of BAP1 and PCLO and their association with immune infiltration in hepatocellular carcinoma.
Authors: Manrique Olivera, Adriana F.1 adriana.manrique@alum.udep.edu.pe, Cedrón Apolo, Kyara1, Guerra Dueñas, Alejandra1
Source: Revista Horizonte Médico. ene-mar2026, Vol. 26 Issue 1, p1-9. 9p.
Abstract (English): Objective: To describe the correlation of BAP1 and PCLO mRNA expression with immune infiltration, immune signatures, and immune response–associated genes in hepatocellular carcinoma samples. Materials and methods: An analytical observational study was conducted based on transcriptomic data from 363 tumor samples from The Cancer Genome Atlas Liver Hepatocellular Carcinoma (TCGA-LIHC) cohort. Spearman’s correlation was assessed between BAP1 and PCLO mRNA expression and three indicators of the tumor immune microenvironment: (1) the relative infiltration of 22 immune cell populations (estimated using the CIBERSORT deconvolution algorithm); (2) gene set variation analysis (GSVA) scores for nine immune signatures; and (3) the expression of 42 immune response–associated genes. P values were adjusted for multiple testing using the Benjamini–Hochberg (BH) method. Associations with a q value < 0.05 after correction were considered statistically significant. Results: BAP1 expression correlated positively with resting mast cells and negatively with resting memory CD4+ T cells and genes associated with an active immune response. In contrast, PCLO expression correlated positively with CD8+ T cells and regulatory T cells and negatively with naive CD4+ T cells and resting mast cells. Moreover, PCLO expression was positively correlated with genes associated with an active immune response, notably immune checkpoint inhibitors such as PDCD1, CD274, PDCD1LG2, CTLA4, HAVCR2, LAG3, and TIGIT. Conclusions: These findings suggest that BAP1 expression may be associated with an immunologically "cold" tumor microenvironment and reduced adaptive immune activation, whereas PCLO expression may be associated with an active immune infiltrate prone to CD8+ T-cell exhaustion. Given their associations with immune response–related genes, these features may have implications for immunotherapy in hepatocellular carcinoma. However, experimental studies are required to confirm these hypotheses. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Objetivo: Describir la correlación entre la expresión de ARNm de BAP1 y PCLO y la infiltración inmune, las firmas inmunológicas y los genes asociados con la respuesta inmune, en muestras de carcinoma hepatocelular. Materiales y métodos: Se realizó un estudio observacional analítico basado en los datos transcriptómicos de 363 muestras tumorales correspondientes a la cohorte de carcinoma hepatocelular del Atlas del Genoma del Cáncer (The Cancer Genome Atlas) (TCGA-LIHC). Se evaluó la correlación de Spearman entre la expresión de ARNm de BAP1 y PCLO y tres indicadores del microambiente inmunológico: 1) el infiltrado relativo de 22 poblaciones celulares inmunes (estimado mediante el algoritmo de deconvolución CIBERSORT), 2) las puntuaciones según el análisis de variación de conjuntos de genes (GSVA) de nueve firmas inmunológicas y 3) la expresión de 42 genes asociados con la respuesta inmune. Los valores p fueron ajustados por pruebas múltiples mediante el método de Benjamini-Hochberg (BH). Se consideraron estadísticamente significativas aquellas asociaciones con valor q < 0,05 tras la corrección. Resultados: BAP1 mostró correlación positiva con mastocitos en reposo, y negativa con linfocitos T CD4+ de memoria en reposo, así como con genes asociados con una respuesta inmune activa. En contraste, PCLO mostró correlación positiva con linfocitos T CD8+ y T reguladores, y correlación negativa con linfocitos T CD4+ vírgenes y mastocitos en reposo. Además, mostró correlación positiva con genes asociados con una respuesta inmune activa, entre los cuales destacan los inhibidores de puntos de control inmunológico PDCD1, CD274, PDCD1LG2, CTLA4, HAVCR2, LAG3 y TIGIT. Conclusiones: Los hallazgos sugieren que la expresión génica de BAP1 se asociaría con un microambiente inmunológicamente "frío" y con una menor activación de respuesta adaptativa, mientras que la expresión génica de PCLO se relacionaría con un infiltrado inmune activo propenso al agotamiento de linfocitos T CD8+. Estas características, sumadas a sus asociaciones con genes vinculados a la respuesta inmune, podrían tener implicancias en inmunoterapia en el carcinoma hepatocelular; sin embargo, se requieren estudios experimentales que corroboren estas hipótesis. [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
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Abstract:Objective: To describe the correlation of BAP1 and PCLO mRNA expression with immune infiltration, immune signatures, and immune response–associated genes in hepatocellular carcinoma samples. Materials and methods: An analytical observational study was conducted based on transcriptomic data from 363 tumor samples from The Cancer Genome Atlas Liver Hepatocellular Carcinoma (TCGA-LIHC) cohort. Spearman’s correlation was assessed between BAP1 and PCLO mRNA expression and three indicators of the tumor immune microenvironment: (1) the relative infiltration of 22 immune cell populations (estimated using the CIBERSORT deconvolution algorithm); (2) gene set variation analysis (GSVA) scores for nine immune signatures; and (3) the expression of 42 immune response–associated genes. P values were adjusted for multiple testing using the Benjamini–Hochberg (BH) method. Associations with a q value < 0.05 after correction were considered statistically significant. Results: BAP1 expression correlated positively with resting mast cells and negatively with resting memory CD4+ T cells and genes associated with an active immune response. In contrast, PCLO expression correlated positively with CD8+ T cells and regulatory T cells and negatively with naive CD4+ T cells and resting mast cells. Moreover, PCLO expression was positively correlated with genes associated with an active immune response, notably immune checkpoint inhibitors such as PDCD1, CD274, PDCD1LG2, CTLA4, HAVCR2, LAG3, and TIGIT. Conclusions: These findings suggest that BAP1 expression may be associated with an immunologically "cold" tumor microenvironment and reduced adaptive immune activation, whereas PCLO expression may be associated with an active immune infiltrate prone to CD8+ T-cell exhaustion. Given their associations with immune response–related genes, these features may have implications for immunotherapy in hepatocellular carcinoma. However, experimental studies are required to confirm these hypotheses. [ABSTRACT FROM AUTHOR]
ISSN:1727558X
DOI:10.24265/horizmed.2026.v26n1.07