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Updated: Sep 10, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Origen clonal independiente en el cáncer de tiroides papilar bilateral en etapa temprana: evidencia del análisis del

Xingyun Su¹, Jimeng Yuan², Xianmeng Chen²

¹Department of Medical Oncology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.

Molecular carcinogenesis

|August 20, 2025

Resumen

La mayoría de los cánceres de tiroides papilares en etapa temprana (PTC) en ambos lóbulos tiroideos se originan de forma independiente. El análisis genético de los tumores emparejados reveló perfiles moleculares distintos, lo que sugiere orígenes separados en lugar de propagarse desde una sola lesión primaria.

Área de la Ciencia:

En el campo de la oncología
La genética
Biología molecular

Sus antecedentes:

El cáncer de tiroides papilar (PTC) se presenta con frecuencia como enfermedad multifocal en ambos lóbulos tiroideos.
El origen de estos focos tumorales distintos (desarrollo independiente frente a la metástasis intraparenquimal) es objeto de debate.

Objetivo del estudio:

Investigar el origen clonal del cáncer de tiroides papilar bilateral (PTC) en la etapa temprana de la enfermedad.
Para comparar los perfiles genéticos de los tumores primarios emparejados en pacientes con PTC bilateral.

Principales métodos:

Se realizó la secuenciación de un panel de 437 genes de cáncer y de ADN mitocondrial completo (ADNmt) en 15 pares de PTC bilaterales de Estadio I.
Las mutaciones somáticas y heteroplasmáticas en los genomas nucleares y mitocondriales se analizaron y compararon entre los tumores emparejados.

Principales resultados:

Se detectaron cuarenta y ocho mutaciones nucleares heteroplasmáticas, con BRAF V600E siendo predominante.
Se identificaron mutaciones nuevas y heteroplasmáticas en el ADNmt.
Se observaron alteraciones genéticas discordantes en el 86,7% de los casos bilaterales de PTC, lo que indica diferentes paisajes mutacionales.

Conclusiones:

La mayoría de las PTC bilaterales en etapa temprana surgen de clones malignos independientes con antecedentes genéticos distintos.
Estos hallazgos apoyan la hipótesis de tumorigénesis independiente para el PTC multifocal.
La comprensión de los distintos orígenes de la PTC bilateral es crucial para guiar la toma de decisiones clínicas individualizadas.

Palabras clave:

la bilateralidad origen clonal El ADNmt secuenciación de próxima generación cáncer de tiroides papilar

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