Publication: Evaluación del PET-TAC como método de diagnóstico precoz del cáncer de mama y/u ovario en mujeres sanas portadoras de mutación en los genes BRCA1 o BRCA2
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2017-09-21
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Universidad Complutense de Madrid
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Abstract
El Cáncer de Mama y Ovario asociado a BRCA es el subgrupo más representativo de todos los que componen el Síndrome de Cáncer de Mama y Ovario Hereditario. Debido a la penetrancia de este desorden genético las mujeres portadoras de mutaciones patogénicas en los genes BRCA1 ó BRCA2 tienen un alto riesgo de desarrollar neoplasias mamarias y ováricas. Dada la importancia del diagnóstico precoz de estos tumores existen programas de cribado específicos para este grupo de alto riesgo. Sin embargo, dichos programas tienen una eficacia limitada, y entre un 10 y hasta un 50% de los casos se llegan a diagnosticar de forma incidental. El PET-TC (18FDG) es una técnica diagnóstica ampliamente utilizada en oncología que ha demostrado una mayor precisión que los métodos estándar en el ámbito de la estadificación y detección de recidivas tumorales, pero hasta ahora nunca empleado en el contexto del cribado entre población sana. Nuestro trabajo es un estudio piloto exploratorio en el que se compara de forma prospectiva y por primera vez la eficacia de un PET-TC (18FDG) anual en la detección de cáncer de mama y/u ovario, frente a la de las técnicas de diagnóstico precoz establecidas como estándar para el seguimiento de mujeres sanas portadoras de mutaciones en los genes BRCA1/2. En él se incluyeron 24 voluntarias atendidas en la Unidad de Cáncer Hereditario del Hospital Clínico San Carlos. Tras un seguimiento de cinco años y 45 cribados completos realizados no se objetivó toxicidad significativa derivada del uso del PET-TC. En el cribado mamario el PET-TC obtuvo 2 falsos negativos y un falso positivo; con un Acuerdo Absoluto con el cribado estándar del 86% (Sensibilidad 0%; Especificidad 75%). En el cribado ovárico el PET-TC detectó un caso de carcinoma peritoneal primario no diagnosticado mediante cribado estándar, con el que presentó un Acuerdo Absoluto del 97% (Sensibilidad y Especificidad 100%). Aunque el papel del PET-TC en el cribado de cáncer de mama resulta controvertido, su valor en el cribado ovárico debe ser adecuadamente explorado.
Ovarian and breast cancer associated to BRCA is the more representative subgroup among the ones classified as ovarian and breast cancer hereditary syndromes. Due to the penetrance of this genetic disorder, women carrying pathogenic mutations in BRCA1 or BRCA2 genes have a high risk of developing breast and ovarian malignancies. Given the importance that an early diagnosis represents for these types of tumors, there are specific screening programs in place for this high risk group. However, these programs have a limited efficiency, and between 10 to 50 % of the cases have been incidentally diagnosed. PET-CT (18FDG) is a diagnostic procedure widely used in oncology that has demonstrated higher precision than the standard methods for the staging and recurrence detection of the tumor, but never used before for the screening of healthy patients. Our project is an exploratory pilot study where we prospectively compare, for the first time, annual PET-CT (18FDG) for the detection of breast and/or ovarian cancer with the standard early diagnosis techniques established for the follow up in healthy women that carry BRCA1/2 mutations. Twenty-four volunteers attending the “Unidad de Cáncer Hereditario” at the “Hospital Clínico San Carlos” were recruited. After a five-year follow-up period and 45 full screenings, no significant toxicity was detected derived from the use of the PET-CT. In the breast screening, the PET-CT detected two false negatives and a false positive with an absolute agreement with the standard screening of 86% (0% sensitivity; 75% specificity). In the ovarian screening, the PET-CT detected one case of primary peritoneal carcinoma not diagnosed by the standard screening; and presented an absolute agreement of 97% (100% sensitivity and specificity) with the standard screening program. Although the role of PET-CT for breast cancer screening is quite controversial, its value for ovarian cancer screening should be further explored...
Ovarian and breast cancer associated to BRCA is the more representative subgroup among the ones classified as ovarian and breast cancer hereditary syndromes. Due to the penetrance of this genetic disorder, women carrying pathogenic mutations in BRCA1 or BRCA2 genes have a high risk of developing breast and ovarian malignancies. Given the importance that an early diagnosis represents for these types of tumors, there are specific screening programs in place for this high risk group. However, these programs have a limited efficiency, and between 10 to 50 % of the cases have been incidentally diagnosed. PET-CT (18FDG) is a diagnostic procedure widely used in oncology that has demonstrated higher precision than the standard methods for the staging and recurrence detection of the tumor, but never used before for the screening of healthy patients. Our project is an exploratory pilot study where we prospectively compare, for the first time, annual PET-CT (18FDG) for the detection of breast and/or ovarian cancer with the standard early diagnosis techniques established for the follow up in healthy women that carry BRCA1/2 mutations. Twenty-four volunteers attending the “Unidad de Cáncer Hereditario” at the “Hospital Clínico San Carlos” were recruited. After a five-year follow-up period and 45 full screenings, no significant toxicity was detected derived from the use of the PET-CT. In the breast screening, the PET-CT detected two false negatives and a false positive with an absolute agreement with the standard screening of 86% (0% sensitivity; 75% specificity). In the ovarian screening, the PET-CT detected one case of primary peritoneal carcinoma not diagnosed by the standard screening; and presented an absolute agreement of 97% (100% sensitivity and specificity) with the standard screening program. Although the role of PET-CT for breast cancer screening is quite controversial, its value for ovarian cancer screening should be further explored...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, leída el 02/02/2016