Browsing by Author "Muñiz Muñoz, María Sabrina"

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    Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients
    (2023) Acevedo Claros, Francisco Nicolás; Walbaum García, Benjamín Vicente; Camus Appuhn, Mauricio Gonzalo; Manzor Véliz, Manuel; Muñiz Muñoz, María Sabrina; Medina Araya, Lidia; Petric Guajardo, Militza Paulina; Reyes, Paula; Domínguez, Francisco; Puschel Illanes, Klaus; Merino Lara, Tomás Rodrigo; Bravo, M. Loreto; Pinto, Mauricio P.; Ibáñez, Carolina; Hughes, Kevin; Sánchez Rojel, César Giovanni
    Purpose Latin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies for germline genetic testing. Our study sought to quantify the disparities in access to genetic testing in Chilean BC patients, according to international standards and their clinical characteristics to explore improvement strategies.Methods Retrospective analysis of invasive BC databases including patients treated in a Public Hospital (PH) and in an Academic Private Center (AC) in Santiago, Chile between 2012 and 2021.Results Of 5438 BC patients, 3955 had enough data for National Comprehensive Cancer Network (NCCN) categorization. From these, 1911 (48.3%) fulfilled NCCN criteria for germline testing, of whom, 300 were tested for germline mutations and 268 with multigene panels. A total of 65 pathogenic variants were found in this subset. As expected, BRCA1/2 mutations were the most frequent (17.7%). Access to genetic testing was higher in AC versus PH (19.6% vs. 10.3%, p = 0.0001). Other variables associated with germline genetic testing were BC diagnosis after 2018, being 45 years old or younger at diagnosis, BC family history (FH), FH of ovarian cancer, non-metastatic disease, and triple-negative subtype.Conclusion In our cohort, 15% of BC patients who met NCCN criteria for germline testing were effectively tested. This percentage was even lower at the PH. Current recommendations encourage universal genetic testing for BC patients; however, our findings suggest that Chile is far from reaching such a goal and national guidelines in this regard are urgently needed. To our knowledge, this is the first study of its kind in Chile and Latin America.
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    Cáncer de mama Her2-positivo: Terapias sistémicas actuales y experiencia local
    (2023) Walbaum García, Benjamín Vicente; Acevedo Claros, Francisco Nicolás; Carrillo Barrientos, Diego Ignacio; Camus Appuhn, Mauricio Gonzalo; Manzor V., Manuel; Martinez R., Raúl; Veglia Q., Paulina; Murature S., Geraldine; Salvado U., Valentina; Muñiz Muñoz, María Sabrina; Merino Lara, Tomás Rodrigo; Sanchez Rojel, César Giovanni
    Breast cancer (BC) is the leading cause of cancer death for women both worldwide and in Chile. Based on clinical, histological, and molecular features, studies have identified four BC subtypes that correlate with treatment sensitivity. Human Epidermal growth factor Receptor type 2-positive (HER2+) BC re-presents 15%-25% of newly diagnosed breast neoplasms; HER2+ BC is characterized by its aggressive behavior, early recurrence, and higher risk of brain metastasis. In recent years, HER2-targeted therapies have become the mainstay of treatment and have redefined the natural history of this subtype, reducing relapse rates for early-stage patients and increasing survival in advanced-stage patients. Herein we review novel treatment strategies and their mechanisms of action, along with clinical and real-world data. We also provide a summary of currently available treatments for this subtype and our local experience regarding the management of this disease.
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    Obesity is associated with early recurrence on breast cancer patients that achieved pathological complete response to neoadjuvant chemotherapy
    (2022) Acevedo Claros, Francisco Nicolás; Walbaum García, Benjamín Vicente; Muñiz Muñoz, María Sabrina; Petric Guajardo, Militza Paulina; Martínez, Raúl; Guerra, Constanza; Navarro, Marisel; Córdova Delgado, Miguel; Pinto, Mauricio P.; Sánchez Rojel, César Giovanni
    Pathological complete response (pCR) after neoadjuvant chemotherapy (NCT) is associated with good long-term prognosis in breast cancer (BC) patients. However, some patients still recur and eventually die from this disease. For years, clinical stage at diagnosis has been consistently linked to recurrence and survival in the pCR setting. Herein, we aimed to identify other potential predictors of recurrence and survival in patients that achieved pCR. We performed a retrospective analysis of patients diagnosed between 2011 and 2020 in our center. We calculated overall survival (OS), invasive disease-free survival (IDFS), distant disease-free survival (DDFS), and BC-specific survival (BCSS). Among the 241 patients included into our study 36% were obese (Body Mass Index (BMI) > 29.9 kg/m2) and 47% were stage III. Multivariate analysis confirmed that obesity was a significant risk factor associated with early recurrence and poorer survival in these patients. In summary, obesity and clinical stage predict early recurrence and poorer survival in patients that achieved pCR after NCT. Pending further investigation and based on our findings we speculate that weight management could be beneficial for this subset of patients. To our knowledge, this is the first Latin American report linking obesity and recurrence within this setting.
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    Palbociclib in advanced stage hormone receptor-positive breast cancer: real- world data from a Chilean multicentre registry
    (2023) Walbaum García, Benjamín Vicente; Reyes, José Miguel ; Rodríguez, Pablo ; Muñiz Muñoz, María Sabrina; Medina Araya, Lidia Marjorie; Ibáñez Cáceres, Carolina; Merino Lara, Tomás Rodrigo; Pinto, Mauricio ; Bravo, María Loreto ; Acevedo Claros, Francisco Nicolás; Bennett Laso, José Tomás; Sánchez Rojel, César Giovanni
    Background The addition of cyclin-dependent kinases inhibitors (CDKi) to endocrine therapy (ET) as the first- or second line treatment improves progression-free and overall survival (OS) in hormone receptor-positive, HER2 negative (HR+/HER2-) advanced stage breast cancer (ABC). Our study compared survival rates and prognostic factors in Chilean patients that used palbociclib as first or subsequent (≥second) lines of treatment in a real-world setting.Methods Our retrospective population-cohort study included HR+/HER2- ABC patients. We calculated 5-year OS and performed a multivariate analysis to determine prognostic factors.Results A total of 106 patients were included. Median age was 49 years (19–86), 28.3% (30) had de novo stage IV disease; 63% received palbociclib with ET as first line, 54% of them with aromatase inhibitor over fulvestrant. Median OS for the entire cohort was 99 months and 5-year OS was 69%. Patients that received first line palbociclib had a 5-year OS of 89% versus 43% for ET monotherapy or ≥second line palbociclib (p = 0.0062). Multivariate analysis showed that the year at diagnosis and CDKi timing (first line versus ≥second line) were significantly associated with OS.Conclusion Our real-world data show that first-line CDKi + ET provides a statistically significant benefit in OS versus ≥second line in HR+/HER2- ABC patients.
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    Suboptimal use of ovarian function suppression in very young women with early breast cancer: a real-world data study
    (2024) Heredia Castro, Ana Manuela; Walbaum García, Benjamín Vicente; Vidal, María ; Itriago Giménez, Laura Morella; Camus Appuhn, Mauricio Gonzalo; Domínguez Covarrubias, Francisco José; Manzor, Manuel ; Martínez, Raúl ; Murature, Geraldine ; Muñiz Muñoz, María Sabrina; Navarro, Marisel ; Guerra, Constanza ; Merino Lara, Tomás Rodrigo; Medina Araya, Lidia Marjorie; Ibáñez Cáceres, Carolina; Ramírez Parada, Karol Lilia; Acevedo Claros, Francisco Nicolás; Sánchez Rojel, César Giovanni
    Purpose The incidence of breast cancer in young women (BCYW) has increased in recent decades. Malignant disease in this subset is characterized by its aggressiveness and poor prognosis. Ovarian function suppression (OFS) in these patients improves survival especially in hormone receptor-positive (HR +) cases. The Regan Composite Risk (RCR) is a prognostic tool to identify high-risk HR + BC candidates for OFS. Our study sought to characterize a Chilean cohort of early HR + BCYW assessing the use of OFS and its related prognosis and the utility of RCR in our patients.MethodsThis was a retrospective population cohort study that included ≤ 35-year-old early HR + /human epidermal growth factor receptor 2 -negative (HER2-) BC patients treated between 2001 and 2021. Analysis included clinical-pathological characteristics, treatment strategies, and survival. Also, we evaluated the association between RCR and survival.ResultsA total of 143 patients were included into our study, representing 2.9% of all early BC cases in our registry. Median age was 31 years old (range: 19–35). Most patients (93%) received endocrine therapy (ET). Of these, 18% received OFS. No survival differences were observed among treatment strategies. Median RCR score for patients treated with CT plus ET was significantly higher vs. ET alone (2.95 vs. 1.91; p = 0.0001). Conversely, patients treated with tamoxifen alone had significantly lower RCR scores vs. OFS (2.72 vs. 3.14; p = 0.04). Higher RCR scores were associated with poorer overall survival.ConclusionLess than 20% of very young women with early HR + /HER2-BC in our cohort received OFS, in most cases, this involved surgical oophorectomy. RCR score was higher in patients that underwent CT and OFS and was associated with survival, regardless of treatment. We confirm the RCR score as a valuable prognostic tool to identify high-risk BC patients who could benefit from OFS.
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    Tratamiento sistémico actual para cáncer de mama avanzado hormono-dependiente
    (2023) Walbaum, Benjamín; Rodríguez Gutiérrez, Javier Ignacio; Acevedo Claros, Francisco Nicolás; Camus Appuhn, Mauricio Gonzalo; Manzor, Manuel; Martínez, Raúl; Veglia, Paulina; Murature, Geraldine; Muñiz Muñoz, María Sabrina; Merino Lara, Tomas Rodrigo; Sánchez Rojel, César Giovanni
    El cáncer de mama es la primera causa de muerte en mujeres chilenas. La mayoría de estos tumores dependen del estímulo estrogénico, por tanto, la deprivación de estrógenos es una parte relevante de su tratamiento. La combinación de terapia endocrina con tratamientos dirigidos ha demostrado prolongar la sobrevida global de pacientes con cáncer de mama avanzado estrógeno dependiente versus la terapia antiestrogénica aislada. Nuevas opciones de manejo sistémico en base a inmunoconjugados y la descripción de nuevos grupos de cáncer de mama estrógeno dependientes con baja expresión del receptor del factor de crecimiento epidérmico humano tipo 2 (HER2-bajo), han abierto otras opciones para pacientes con resistencia endocrina. Junto a una descripción de la experiencia local, mostramos una revisión narrativa de las nuevas opciones de tratamiento sistémico del cáncer de mama avanzado estrógeno dependiente.