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RESUMEN La mastectomía reductora de riesgo, también conocida como mastectomía profiláctica, consiste en extirpar la mayor cantidad de tejido posible de una mama sana para reducir el riesgo potencial de desarrollar cáncer. Se presenta el caso de una paciente de 30 años de edad, de color de piel negra, multípara y con antecedentes de padecer desde muy joven enfermedad macroquística de mamas. A esta paciente se le había realizado mastectomía subcutánea bilateral 10 años atrás a causa de enfermedad macroquística y que no tuvo posibilidad de implantes en esa ocasión, lo que le acarreó cicatrices inestéticas y secuelas psicológicas. La paciente acudió al Servicio de Cirugía Plástica del Princess Marina Hospital de Botswana en África solicitando corrección estética. Con la intervención se logró una mama armónica, aunque pequeña, con tejidos autólogos, sin complicaciones mayores y con la perspectiva para aumento de volumen mamario futuro con tejidos autólogos. En esta paciente la reconstrucción estética fue una opción necesaria y a su vez efectiva dado su contexto socioeconómico. Se presenta el caso por lo interesante que resulta este tipo de intervención realizada por especialistas cubanos en su colaboración médica en un país africano.
ABSTRACT Risk-reducing mastectomy, also known as prophylactic mastectomy, involves removing as much tissue as possible from a healthy breast to reduce the potential risk of developing cancer. A case of a 30-years-old, black-skinned, multiparous patient with a history of suffering from a very young macrocystic breast disease is presented. This patient had undergone bilateral subcutaneous mastectomy 10 years ago due to macrocystic disease and had no possibility of implants on that occasion, which caused unaesthetic scars and psychological sequelae. The patient went to the Plastic Surgery Service of the Botswana Prince Marina Hospital in Africa requesting aesthetic correction. With the intervention, a harmonic breast was achieved, although small, with autologous tissues, without major complications and with the prospect of future breast volume increase with autologous tissues. In this patient, aesthetic reconstruction was a necessary and effective option given her socioeconomic context. The case is presented due to the interesting nature of this type of intervention carried out by Cuban specialists in their medical collaboration in an African country.
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Objetivo: describir el caso de una paciente con Síndrome de Li-Fraumeni (SLF) y cáncer de mama, en quien se cuestionó el beneficio en la supervivencia de la mastectomía profiláctica contralateral (MPC); asimismo, se pretende hacer una discusión crítica acerca de la evidencia que soporta este procedimiento en esta población. Presentación del caso: mujer de 37 años con cáncer de mama y múltiples antecedentes familiares de cánceres de temprana aparición del espectro del SLF, en quien, durante la adyuvancia hormonal, se confirmó una variante patogénica en el gen TP53. La paciente fue presentada en la Junta Multidisciplinaria del Servicio de Mama de un Centro Oncológico de referencia en Colombia, con el fin de discutir el beneficio de la MPC. La decisión de la junta fue no realizar la MPC. Después de 30 meses de seguimiento la paciente se encuentra libre de enfermedad. Conclusión: no existe evidencia que analice, de forma particular, el impacto de la MPC en la supervivencia de las pacientes con SLF y cáncer de mama. Sin embargo, a la luz del conocimiento actual no es posible generalizar la conducta de omitir esta cirugía profiláctica. Es importante reportar los casos en los que se decida realizar u omitir este procedimiento con el fin de incrementar el cuerpo de la evidencia, dado que existen limitaciones para construir grandes cohortes o estudios experimentales exclusivos para esta alteración genética.
Objective: To describe the case of a patient with Li-Fraumeni syndrome (LFS) and breast cancer in whom the benefit of contralateral prophylactic mastectomy (CPM) was challenged; and to offer a critical discussion regarding the evidence supporting this procedure in this patient population. Case presentation: A 37-year-old woman with breast cancer and a family history of multiple early onset cancer of the LFS spectrum in whom a pathogenic variant of the TP53 gene was confirmed during adjuvant hormonal therapy. The case was presented during the multidisciplinary meeting of the Breast Service of a referral oncology center in Colombia, in order to discuss the benefit of CPM. The decision of the board meeting was not to perform CPM. After 30 months of follow-up, the patient is disease-free. Conclusion: There is no evidence on the impact of CPM on survival of patients with LFS and breast cancer in particular. However, in light of the current knowledge, it is not possible to generalize the approach of withholding this prophylactic surgery. It is important to report those cases in which the decision is made to either perform or omit this procedure in order to increase the body of evidence, considering the limitations that make it difficult to build large cohorts or conduct trials exclusively for this genetic disorder.
Subject(s)
Female , Adult , Breast Neoplasms , Li-Fraumeni Syndrome , Genes, p53 , Prophylactic MastectomyABSTRACT
Introduction: There has been a substantial increase worldwide in the number of women with unilateral breast cancer who undergo bilateral mastectomy. Possible contributing factors include the advent of nipple-sparing mastectomy (NSM) and an improvement in breast reconstruction techniques. This study evaluated the trend in bilateral mastectomy at the Ceará Cancer Institute in Brazil. Methods: Patients with unilateral breast cancer who underwent mastectomy and immediate breast reconstruction were evaluated retrospectively between 2009 and 2018. Clinical, pathological and surgical factors were analyzed to determine their possible effects on the type of surgery performed. Results: Of 121 patients, 77 (63.6%) were submitted to unilateral mastectomy, while 44 (36.4%) underwent bilateral mastectomy. Most were treated with NSM (n = 66; 54.5%), with this technique being significantly associated with bilateral mastectomy (p < 0.001). Bilateral mastectomy increased significantly over the period (p = 0.009; r2 = 0.592), but unilateral mastectomy did not (p = 0.417; r2 = 0.084). Age < 45 years (p = 0.007) and negative axilla (p = 0.003) were also associated with bilateral mastectomy, while axillary dissection was associated with unilateral mastectomy (p = 0.028). Multivariate analysis showed the 2016-2018 period to be an independent factor associated with bilateral mastectomy. Conclusions: These results corroborate the international literature. From 2010 onwards, there was a trend towards an increase in bilateral mastectomy with breast reconstruction. These data may contribute to multidisciplinary debates, facilitating the establishment of guidelines. Further studies are required to improve understanding of this phenomenon in Brazil.
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Introduction: Nipple-Sparing Mastectomy (NSM) is increasingly indicated for therapeutic and prophylactic purposes due to better cosmetic results with nipple maintenance. Postoperative complications have not been compared among patients who have undergone simultaneous therapeutic and contralateral prophylactic NSM. The aim of the present study was to evaluate the incidence and risk factors for postoperative complications in bilateral/unilateral NSMs, and therapeutic and/or prophylactic NSMs. Methods: Retrospective study of patients who underwent NSM between 2007 and 2017 at A.C. Camargo Cancer Center. Results: Among 290 patients, 367 NSMs were performed, 64 simultaneous therapeutic and contralateral prophylactic NSM. The latter were associated with more postoperative complications (OR=3.42; p=0.002), mainly skin flap necrosis (OR=3.79; p=0.004), hematoma (OR=7.1; p=0.002), wound infection (OR=3.45; p=0.012), and nipple-areola complex (NAC) loss (OR=9.63; p=0.003). Of the 367 NSMs, 213 were unilateral NSMs, which were associated with lower rates of postoperative complications (OR=0.44; p=0.003), especially skin flap necrosis (OR=0.32; p=0.001), hematoma (OR=0.29; p=0.008), wound infection (OR=0.22; p=0.0001), and reoperation (OR=0.38; p=0.008). Obesity was related to more postoperative complications (OR=2.55; p=0.01), mainly hematoma (OR=3.54; p=0.016), reoperation (OR=2.68; p=0.023), and NAC loss (OR=3.54; p=0.016). Patients' age (p=0.169), their smoking status (p=0.138), breast ptosis (0.189), previous chest radiotherapy (p 1), or previous breast surgery (p=0.338) were not related to higher chances of postoperative complications. Conclusions: Results suggest that performing therapeutic and contralateral prophylactic NSM as separated procedures may represent a good strategy for minimizing postoperative complications.
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Introducción: La mastectomía de reducción de riesgo contalateral (MRRC) es una procedimiento que ha ido incrementándose en los últimos años sin demostrar un claro beneficio en cuanto a supervivencia global. Este incremento paradójicamente se ve reflejado en pacientes con bajo riesgo de desarrollar un carcinoma de mama contralateral. Objetivo: El objetivo de este trabajo es analizar las características de las pacientes con diagnóstico de cáncer de mama unilateral, que optan por realizar MRRC y su calidad de vida, evaluado el procedimiento, la satisfacción global y el impacto que genera en las pacientes, tanto a nivel psicológico, cosmético, social y sexual. Material y método: Se realizó un estudio retrospectivo transversal de pacientes con diagnostico de cáncer de mama unilateral tratadas con mastectomía que optaron por realizar MRRC entre el año 2005 y octubre del año 2019. Se incluyeron 74 pacientes que realizaron MRRC. Resultados: La edad de las pacientes fue de 43.6 años. Dentro de nuestra casuística el 92.8% de las pacientes se encuentran satisfechas reflejando una buena calidad de vida. La totalidad de las pacientes volvería a optar por este procedimiento y están satisfechas con la decisión tomada. Por el contrario el 7.2% no se encuentran satisfechas, reflejándose negativamente en su bienestar sexual, imagen corporal y comodidad frente a una reunión social. Conclusiones: Si bien el grado de satisfacción en cuanto a la realización de la MRRC es elevado, hay que tener en cuenta que este procedimiento no está libre de complicaciones y efectos adversos los cuales impactan en diferentes aspectos psicosociales de las pacientes afectando así su calidad de vida, Es por esto que la decisión para realizar este procedimiento debe ser contemplada con cuidado asesorando a las pacientes e informando tanto los riesgos como los beneficios del mismo.
Introduction: Contralateral Prophylactic Mastectomy (CPM) it's a procedure that has been increasing in the last years, without demonstrating a clear benefit in overall survival. Paradoxically this increase is reflected in low risk patients who decide to undergo CPM. Objetive: The purpose of this study is to describe the characteristics of the patients with unilateral breast cancer who decide to undergo CPM, analyzing this procedure, evaluating quality of life, global satisfaction and the psychological, cosmetic social and sexual outcomes. Material and method: A restrospective trial was conducted on patients diagnosed with unilateral breast cancer, who underwent mastectomy and CPM between the year 2005 and october 2019. 74 patients were included in this tria. Results: The mean age of patients in this study was 43.6 years. In our study 92.8% of the patients were satisfied, reflecting this in their quality of life. All patients would choose this procedure again, and are satisfied with the decision they have mad. On the other end 7.2% were dissatisfied, reflecting this result negatively in their sexual well being, body image and comfort in social meeting. Conclusions: Although the rate of satisfaction with performance of CPM is elevated, we must consider that this procedure is not free of complications and adverse errects. In fact they do exist and they impact in different psychosocial aspect, and quality of lige. This is why the decision to carry out this procedure must be carefully considered, advising patients and informing both the risks and benefits of it.
Subject(s)
Humans , Female , Mastectomy , Personal Satisfaction , Quality of Life , Body Image , Unilateral Breast Neoplasms , Prophylactic MastectomyABSTRACT
Objective: To explore the possibility of prophylactic nipple-sparing mastectomy and immediate reconstruction in healthy Chinese women with BRCA1/BRCA2 germline mutation. Methods: From January 2018 to February 2019, three healthy Chinese women with a BRCA1/ BRCA2 germline pathogenic mutation were treated at the Department of Breast Surgery, Peking University International Hospital (2 cases of BRCA1 mutation and 1 case of BRCA2 mutation); these three women (aged 34-36 years) had a strong family history of breast cancer. Thus, they underwent prophylactic nipple-sparing mastectomy and immediate reconstruction. Results: The operations were successfully completed, and no complications occurred. After a median 18-month follow-up, no breast cancer occurred in the three women; they were satisfied with the reconstructed breast's shape, and their anxiety also significantly reduced. Conclusions: Healthy Chinese women with a BRCA1/ BRCA2 germline mutation and a strong family history of breast cancer can possibly consider prophylactic nipple-sparing mastectomy and immediate reconstruction as options.
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Malignant breast neoplasia is the main cause of cancer mortality in women in Brazil, after non-melanoma skin cancer, and about 5 to 10% of these cases are associated with family inheritance; BRCA1 and BRCA2 genes are the most frequently mutated. In this sense, there has been a paradigm shift in medical practice regarding breast cancers in recent years, with the implementation of risk-reducing surgical procedures, such as bilateral mastectomy and salpingo-oopherectomy, which still have controversies in the indication, in addition to fears and sufferings of patients, before and after the procedure. A 54-year-old female patient has been undergoing routine examinations since 2009 (49 years), as she has a family history of breast cancer. In May 2014 (54 years old), the patient underwent genetic research, discovering the pathogenic 648delT mutation in heterozygosity in the BRCA1 gene. Although complementary exams did not indicate any neoplasia, the patient wanted to undergo risk-reducing surgery. After interprofessional discussion with the patient, bilateral risk-reducing mastectomy and salpingo-oophorectomy were performed. The patient had a postoperative infection, and one of the silicone prostheses was removed from her breast. In 2015 (55 years old), she underwent a new prosthesis inclusion, evolving without complications. Currently, she is being followed up and without evidence of active cancer disease. Despite the complication with the prosthesis, there was an improvement in psychological aspects that bothered her, referring to a reduction in anxiety and fear of cancer. Although beneficial, risk-reducing mastectomy has associated risks, especially in patients with advanced age and comorbidities. However, with an appropriate approach and focused on the complexities of each person, it is possible to provide the patient with a better overall psychological experience, as demonstrated in this case reported.
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Introducción La Mastectomía de Reducción de Riesgo Contralateral (mrrc) se ha incrementado considerablemente en los últimos años. Este aumento llama la atención debido a que la incidencia del carcinoma de mama contralateral ha disminuido gracias al diagnóstico temprano y a los avances en los tratamientos adyuvantes. No se ha podido demostrar un claro beneficio de la mrrc en la Supervivencia Global (sg), en especial en las pacientes de bajo riesgo. Objetivos Describir la evolución y las características de las pacientes con diagnóstico de cáncer de mama unilateral que optaron por realizar mrrc en el Servicio de Mastología del Hospital Británico de Buenos Aires, analizando la aparición de carcinoma contralateral, la Supervivencia Libre de Enfermedad (sle) y la Supervivencia Global (sg), y compararla con un grupo de pacientes a quienes se les realizó Mastectomía Terapéutica Unilateral (mtu). Material y método Se realizó un estudio retrospectivo de pacientes con diagnóstico de cáncer de mama unilateral tratadas con mastectomía y sometidas a mrrc entre octubre de 2005 y noviembre de 2014. Se incluyeron 46 pacientes que recibieron mrrc, y en el grupo control a 140 pacientes a las que se les realizó mtu en el mismo período de tiempo y rango etario. El seguimiento medio en el grupo de mrrc fue de 49,3 meses y en el grupo de mtu de 43,3 meses. Resultados La incidencia anual del carcinoma contralateral fue de 0,5% en nuestra casuística. Las curvas de Kaplan Meier para supervivencia libre de enfermedad y supervivencia global no muestran diferencias significativas entre ambos grupos. Tampoco se observan diferencias en los subgrupos analizados de mujeres menores de 50 años y receptores estrogénicos (re) negativos. Conclusiones No hubo beneficio en cuanto a sle y sg en las pacientes sometidas a mrrc comparadas con el grupo de mtu, aun en los subgrupos considerados de mayor riesgo como aquellas pacientes menores de 50 años y Receptores de Estrógenos (re) negativos. No hubo desarrollo de carcinomas contralaterales en el grupo de mrrc. Al ser un procedimiento solicitado por las pacientes, es importante que el cirujano cuente con la información adecuada para poder brindar la mejor recomendación para cada una de ellas
Introduction Contralateral Prophylactic Mastectomy (cpm) has considerably increased in recent years. Such increase calls our attention, since the incidence of contralateral breast carcinoma has decreased as a result of early diagnosis and of the progress made with adjuvant therapies. No clear benefit in Overall Survival (os) was proven, particularly in low risk patients. Objectives To describe the evolution and characteristics of patients with unilateral breast cancer who decided to undergo cpm at the Buenos Aires British Hospital Breast Services Unit, analyzing the appearance of contralateral carcinoma, Disease-Free Survival (dfs) and Overall Survival (os), compared to a group of patients who underwent unilateral mastectomy. Materials and method A retrospective trial was conducted on patients diagnosed with unilateral breast cancer who underwent mastectomy and cpm between October 2005 and November 2014. During the same time period and among the same age group, 46 patients received cpm and 140 patients, from the control group, underwent unilateral mastectomy. The mean follow-up period was of 49.3 months for the cpm group, and of 43.3 months for the unilateral mastectomy group. Results The annual incidence of contralateral carcinoma was 0.5% in our cases. Kaplan Meier curves for disease-free survival (dfs) and overall survival (os) show no significant differences between both groups. The same is true for subgroups of women under 50 years old with negative estrogen receptors. Conclusions There was no benefit in terms of dfs and os in patients who underwent cpm against the unilateral mastectomy group, even in subgroups considered of higher risk, such as patients under 50 and with negative er. There were no contralateral carcinomas in the cpm group. Since this procedure is requested by patients, it is important for the surgeon to have the correct information to be able to provide the best recommendation in each case
Subject(s)
Breast Neoplasms , Carcinoma , Survivorship , MastectomyABSTRACT
RESUMEN El cáncer epitelial de ovario representa uno de los tumores ginecológicos más letales ya que más del 75% de las pacientes son diagnosticadas en estadío avanzado. Aún no se ha demostrado que la realización de pruebas y exámenes pélvicos rutinarios haya reducido la mortalidad, no existiendo actualmente, un cribado eficaz para su diagnóstico precoz. Aunque la sintomatología metastásica extraperitoneal más común es el derrame pleural, las linfadenopatías neoplásicas a nivel supraclavicular aparecen hasta en el 4% de casos, generalmente asociándose a un mal pronóstico. La identificación de una adenopatía supraclavicular se relaciona hasta en un 58-83% de los casos, con el hallazgo de una tumoración maligna. Por otro lado, la dermatomiositis del adulto puede tener un origen paraneoplásico en un 15-25% de las ocasiones, siendo el cáncer de mama y de ovario la etiología más frecuente en la población femenina. Las pacientes portadoras de mutaciones en los genes BRCA 1 y 2 tienen un aumento del riesgo de padecer neoplasias de mama y ovario. En aquellas afectas de un cáncer de ovario y portadoras de una mutación en los genes BRCA, no se debería plantear una cirugía profiláctica de rutina sobre la mama, al menos en los primeros 5 años tras el diagnóstico de la neoplasia ovárica. Presentamos el caso de una paciente portadora de una mutación germinal del gen BRCA 1, que debuta con un cáncer de ovario, tras el estudio de una adenopatía neoplásica de cuello, biopsiada en el contexto de un síndrome paraneoplásico cutáneo.
ABSTRACT Epithelial ovarian cancer represents one of the most lethal gynecological tumors, since more than 75% of affected women are diagnosed at an advanced stage. However, studies have not demonstrated yet that performing routine pelvic exams and tests had reduced mortality in ovarian cancer, and currently there is no effective screening for early diagnosis. The most common extraperitoneal metastatic symptomatology of ovarian cancer is pleural effusion, but there are other, like neoplastic lymphadenopathies at supraclavicular level, described in up to 4% of cases and generally related to a poor prognosis. The identification of a supraclavicular adenopathy is associated with the finding of a malignant tumor in 58-83% of the cases. On the other hand, adult dermatomyositis can have a paraneoplastic origin in 15-25% of patients, being breast and ovarian cancer the most frequent etiology in the female population. Patients with BRCA 1 and 2 genes mutations have an increased risk of breast and ovarian malignancies. In those affected by an ovarian cancer and carriers of a mutation in the BRCA genes, routine prophylactic surgery should not be considered on the breast, at least in the first 5 years after the diagnosis of ovarian neoplasia. We present the case of a patient with a germinal mutation of the BRCA 1 gene, who debuts with an ovarian cancer, after the study of a neoplastic adenopathy of neck, biopsied in the context of a cutaneous paraneoplastic syndrome.
Subject(s)
Humans , Female , Adult , Ovarian Neoplasms/genetics , BRCA1 Protein/genetics , Dermatomyositis/complications , Carcinoma, Ovarian Epithelial/epidemiology , Carcinoma, Ovarian Epithelial/diagnostic imaging , Ovarian Neoplasms/pathology , Biopsy , Neoplastic Syndromes, Hereditary , Breast Neoplasms/genetics , Risk Factors , Prophylactic Mastectomy , MutationABSTRACT
Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database. From May to August 2016, 70 physicians responded to the survey. Genetic testing recommendations and prophylactic management were increased after the announcement. Risk-reducing salpingo-oophorectomy and contralateral prophylactic mastectomy was significantly increased in BRCA carriers with breast cancer. The BRCA testing rate increased annually. Health insurance and a celebrity announcement were associated with increased genetic testing.
Subject(s)
Breast Neoplasms , Breast , Genetic Testing , Insurance Coverage , Insurance , Insurance, Health , Insurance, Health, Reimbursement , Mastectomy , National Health Programs , Ovarian Neoplasms , Risk ManagementABSTRACT
Entre el 5 al 10 % de los cánceres de ovario y mama son atribuidos a una transmisión autosómica dominante de mutaciones heredadas en los genes BRCA 1 y BRCA 2. Estos explican el 90 % y el 50 % de los cánceres hereditarios de ovario y mama, respectivamente. Las mujeres que heredan la mutación en el gen BRCA tienen mayor riesgo de cáncer de mama, de ovario y los varones poseedores de dicho gen tienen un riesgo de cáncer de próstata. Las mujeres con la mutación en el gen BRCA 2 también tienen riesgo (aunque menor) de presentar cáncer de mama y de ovario, y en varones hay un riesgo de cáncer de mama. Sin embargo, hay otros síndromes que explican el cáncer hereditario de mama y ovario y otros genes que aún están por descubrirse. Entre estos están el Lynch II, el síndrome Li-Fraumeni, el síndrome de ataxia telangiectasia, el síndrome de Cowden y el síndrome de Bloom. En la actualidad es posible ofrecer la identificación de estas mutaciones con base en el DNA y en una historia familiar completa, pero la utilidad de la predicción de las pruebas genéticas requiere de una adecuada asesoría para la interpretación de sus resultados.
Between 5 and 10 % of breast and ovarian cancers can be traced to an autosomal dominant mode of inheritance of hereditary mutations in a pair of genes known as BRCA 1 and BRCA 2. They explain 90 % and 50 % of hereditary breast and ovarian cancer, respectively . Women carrying a mutation in the BRCA 1 gene, have a life risk for developing breast cancer and for ovarian cancer, a higher risk of colon cancer and men have a high risk of prostatic cancer. Women having the BRCA 2 gene mutation also have the same risk to develop breast cancer but the ovarian cancer is lower (10 % at 70 years) and is characterized for a risk of 6 % of breast cancer in men. Besides there are other known causes of these hereditary syndromes, other implicated genes still to be discovered. The more renoume syndromes are Lynch II, Li-Fraumeni, Ataxia Telangiectasia, Cowden and Bloom syndromes, etc. Currently, it is possible to convey detection of carriers of these mutations based on DNA and a complete family history, but the useful prediction of genetic tests requires a formal counseling to interpret the results.
Subject(s)
Humans , Female , Breast Neoplasms , Genes, Suppressor , Mastectomy , MutationABSTRACT
Após todos os esforços nas últimas décadas para diminuir a extensão do tratamento cirúrgico docâncer de mama, parece um contra-senso propor a retirada preventiva das mamas em mulheressadias que apresentem risco aumentado para o desenvolvimento do câncer. Porém, a mastectomiaprofilática vem se tornando popular entre médicos e pacientes em decorrência de sua eficácia e daslimitações das demais estratégias de prevenção primária e secundária do câncer de mama. Nestetrabalho, comentamos os fatores de risco para o câncer de mama e as estratégias preventivas paraas mulheres de alto risco. A seguir são enfatizados os diversos conflitos éticos envolvidos na opçãopela mastectomia profilática.
After all the efforts in the last decades to reduce the aggressiveness of the surgical treatment of breastcancer, it seems contradictory proposing the whole breast extirpation in healthy women, that presents anincreased risk to develop breast cancer. However, the prophylactic mastectomy is becoming popular amongphysicians and patients due to its efficacy and also the limitations of the other methods for primary andsecondary prevention. In this paper we comment about the risk factors for breast cancer and the preventivestrategies for high risk women. The ethical conflicts implicated in the options for prophylactic mastectomyare also emphasized.
Subject(s)
Humans , Female , Ethics , Mastectomy/adverse effects , Mastectomy/ethics , Mastectomy/methods , Mastectomy/psychology , Breast Neoplasms/genetics , Breast Neoplasms/prevention & control , Genes, BRCA1 , Informed Consent , Risk FactorsABSTRACT
Risk-reducing surgery is known as the most powerful preventive strategy for BRCA mutation carriers. This current case report represents the first documentation of the contralateral prophylactic mastectomy (CPM) and bilateral salphingo-oophorectomy (BSO) in a carrier of BRCA mutation in Korea. The patient was a 39-year-old woman who was seen in at a genetic counseling clinic for discussing of risk-reducing strategies for the breast and ovarian cancer. She presented at the age of 38 year with a 1.5 cm sized, grade 3, and ER/PR/HER2 negative infiltrating ductal carcinoma of the right breast. She was treated with wide local excision of the right breast and sentinel lymph node biopsy of the axilla. She was then treated with CAF (Cyclophosphamide+Doxorubicin+5-Fluorouracil) chemotherapy and radiation therapy. She was initially counseled at the time of surgery due to the family history of her mother, who suffered with breast cancer at the age of 58. After the completion of chemotherapy, we received the genetic test results and it was positive for the BRCA1 mutation (3746_3747insA). After a long discussion of cancer surveillance and risk-reducing options, she decided to undergo ipsilateral mastectomy and CPM and BSO. Before surgery, psychiatric consultation was done and questionnaires evaluating her depression, anxiety, body image, quality of life, and psychological distress were filled out. After discussion with the plastic surgeon, she decided to undergo delayed reconstruction of the breast. We performed endoscopic bilateral skin-sparing mastectomy and a laparoscopic bilateral salphingo-oophorectomy. There was no complication after surgery and the pathologic examination revealed no evidence of cancer in both breasts and ovaries. We think that CPM and BSO are feasible risk-reducing options for the breast cancer patients with the BRCA mutation in Korea.
Subject(s)
Adult , Female , Humans , Anxiety , Axilla , Body Image , Breast , Breast Neoplasms , Carcinoma, Ductal , Depression , Genetic Counseling , Korea , Mastectomy , Mothers , Nitriles , Ovarian Neoplasms , Ovary , Pyrethrins , Quality of Life , Sentinel Lymph Node Biopsy , Surveys and QuestionnairesABSTRACT
Presentamos una revisión de la influencia de los genes BCRA1 y BCRA2 en el cáncer de mamas, su incidencia y las expectativas de sobrevida en aquellas personas que se realizan un estudio genético oportuno; destacaremos de igual manera, los criterios para que determinado paciente reciba consejería genética y/o análisis de estos genes; además: ¿cuáles serían las indicaciones para realizarse mastectomía profiláctica.
We present a review of the influences of the BRCA1 and BRCA2 genes in breast cancer, the incidence and life expectancies of those patients who undergo a genetic study on time. We will also emphasize the main criteria for which a patient should receive genetic counciling and/or analysis of theses genes; as well as the indications for considering a prophylactic mastectomy.