LEIOMIOMA DEFICIENTE EN FUMARATO HIDRATASA: UN MARCADOR SILENTE DE RIESGO
Authors/Creators
- 1. Universidad de Antioquia, Medellín Colombia
- 2. Universidad de Caldas, Departamento de Medicina Interna, Manizales, Colombia
Description
Los leiomiomas uterinos son los tumores benignos más frecuentes en el tracto reproductivo femenino, originados en el músculo liso. Aunque el 90% de estos tumores son leiomiomas convencionales, existen subtipos con características morfológicas y moleculares especiales, como los leiomiomas FH-deficientes. Estos últimos están vinculados a una mutación en el gen de la fumarato hidrogenasa (FH), lo que genera una proliferación celular y un mayor riesgo de recurrencia. La prevalencia es particularmente alta en mujeres afroamericanas, quienes suelen presentar síntomas como hemorragias anormales y dolor pélvico. En un caso clínico, una paciente de 34 años que padecía hemorragias y dolor pélvico fue diagnosticada con un leiomioma FH-deficiente luego de una histerectomía. Este subtipo está asociado con el síndrome de leiomiomatosis hereditaria y carcinoma renal, lo que llevó a realizar estudios genéticos y a establecer una vigilancia renal anual. Este caso subraya la importancia de un diagnóstico temprano y un seguimiento adecuado, ya que, aunque estos tumores son benignos, pueden ser indicativos de riesgos adicionales. El tratamiento depende de los síntomas, con opciones quirúrgicas y médicas, y un monitoreo constante es esencial para detectar recurrencias y posibles complicaciones.
Abstract (English)
Uterine leiomyomas are the most common benign tumors of the female reproductive tract, originating from smooth muscle. Although 90% of these tumors are conventional leiomyomas, there are subtypes with unique morphological and molecular characteristics, such as FH-deficient leiomyomas. These are associated with mutations in the fumarate hydratase (FH) gene, leading to cellular proliferation and an increased risk of recurrence. The prevalence is particularly high among African American women, who often present with symptoms such as abnormal bleeding and pelvic pain. In a clinical case, a 34-year-old patient suffering from bleeding and pelvic pain was diagnosed with an FH-deficient leiomyoma following a hysterectomy. This subtype is linked to hereditary leiomyomatosis and renal cell carcinoma syndrome, prompting genetic testing and annual renal surveillance. This case highlights the importance of early diagnosis and proper follow-up, as these tumors, although benign, can serve as indicators of additional risks. Treatment is based on symptomatology, with both surgical and medical options available, and continuous monitoring is essential to detect recurrences and potential complications.
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Additional details
Additional titles
- Translated title (English)
- FUMARATE HYDRATASE DEFICIENT LEIOMYOMA: A SILENT MARKER OF RISK
Identifiers
- ISSN
- 2530-5468
Software
- Repository URL
- https://revistacientificasanum.com/
References
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