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Mutaciones de PIK3CA en Adenocarcinoma Apendicular de Inicio Temprano

Princy Gupta¹, Rushabh Gujarathi², Lu Qiao¹

¹Department of Surgery, Yale School of Medicine, New Haven, CT.

JCO precision oncology

|February 19, 2026

Resumen

El cáncer de apéndice de inicio temprano (CAIT) muestra más mutaciones de PIK3CA que la enfermedad de inicio tardío. Las mutaciones de PIK3CA se asocian con peor supervivencia general en pacientes con cáncer de apéndice.

Área de la Ciencia:

Oncología; Biología Molecular; Genética

Sus antecedentes:

El cáncer de apéndice (CA) afecta a pacientes de todas las edades, con una parte importante diagnosticada antes de los 50 años.; El cáncer de apéndice de inicio temprano (CAIT) presenta características únicas, lo que sugiere distinciones biológicas subyacentes del CA de inicio tardío (CAIT).; Los fundamentos moleculares de las disparidades entre CAIT y CAIT siguen sin explorarse en gran medida.

Objetivo del estudio:

Comparar los perfiles mutacionales de CAIT y CAIT.; Investigar el impacto de estas diferencias moleculares en la supervivencia general (SG).

Principales métodos:

Análisis retrospectivo de casos de adenocarcinoma apendicular de la base de datos Memorial Sloan Kettering-Metastatic Events and Tropisms.; Estratificación de pacientes en grupos de CAIT (<50 años) y CAIT (≥50 años).; Validación utilizando datos del proyecto American Association for Cancer Research Genomics Evidence Neoplasia Information Exchange (GENIE); análisis de supervivencia mediante modelos de Kaplan-Meier y Cox.

Principales resultados:

Los pacientes con CAIT demostraron una mayor prevalencia de mutaciones de PIK3CA en comparación con los pacientes con CAIT (17,1 % frente a 7,7 %).; Las mutaciones de PIK3CA fueron más frecuentes en la enfermedad metastásica y en el adenocarcinoma no clasificado de otra manera (NOS) en comparación con los tumores mucinosos.; Las mutaciones de PIK3CA se asociaron de forma independiente con una supervivencia general significativamente peor (HR, 2,62; P < 0,01).

Conclusiones:

Las mutaciones de PIK3CA son más prevalentes en el cáncer de apéndice de inicio temprano y son un predictor independiente de peor supervivencia.; El pronóstico del cáncer de apéndice puede beneficiarse de la incorporación del estado de mutación de PIK3CA.; Las terapias dirigidas que inhiben PIK3CA merecen investigación para el tratamiento del adenocarcinoma apendicular.

Palabras clave:

cáncer de apéndice PIK3CA mutaciones inicio temprano supervivencia adenocarcinoma

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