Browsing by Author "Sernaque-Quintana, R"

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Factors influencing outcomes of older children with medulloblastoma over 15 years in Peru, a resource-limited setting
(John Wiley and Sons Inc, 2022) Diaz-Coronado, RY; Reinecke, JB; Stanek, JR; Finlay, JL; Hernández-Broncano, E; Chávez-Paredes, S; Miranda-Tunque, Y; Heredia Zelaya, A; Casavilca-Zambrano, S; García-Corrochano Medina, P; Ojeda Medina, L; Orrego Puelles, E; Torres Malca, E; Sernaque-Quintana, R; Quispe-Valverde, W; García León, JL; Osorio, DS
Background: Medulloblastoma is the most common malignant brain tumor in children. While survival has improved in high-income countries (HIC), the outcomes for patients in low-to-middle-income countries (LMIC) are unclear. Therefore, we sought to determine the survival of children with medulloblastoma at the Instituto Nacional de Enfermedades Neoplasicas (INEN) between 1997 and 2013 in Peru. Methods: Between 1997 and 2013, data from 103 children older than 3 years with medulloblastoma were analyzed. Fourteen patients were excluded. The patients were split into two distinct cohorts, 1997–2008 and 2009–2013, corresponding with chemotherapy regimen changes. Event-free (EFS) and overall survival (OS) were calculated using the Kaplan–Meier method, whereas prognostic factors were determined by univariate analysis (log-rank test). Results: Eighty-nine patients were included
Primary central nervous system sarcoma with DICER1 mutation—treatment results of a novel molecular entity in pediatric Peruvian patients
(John Wiley and Sons Inc, 2022) Diaz Coronado, RY; Mynarek, M; Koelsche, C; Mora Alferez, P; Casavilca Zambrano, S; Wachtel Aptowitzer, A; Sahm, F; von-Deimling, A; Schüller, U; Spohn, M; Sturm, D; Pfister, SM; Morales-La-Madrid, A; Sernaque-Quintana, R; Sarria-Bardales, G; Negreiros-Chinchihuara, T; Ojeda-Medina, L; Garcia-Corrochano, P; Campos-Sanchez, DA; Ponce-Farfan, J; Rutkowski, S; Garcia-Leon, JL
Background: A high frequency of primary central nervous system (CNS) sarcomas was observed in Peru. This article describes the clinical characteristics, biological characteristics, and outcome of 70 pediatric patients. Methods: Data from 70 pediatric patients with primary CNS sarcomas diagnosed between January 2005 and June 2018 were analyzed. DNA methylation profiling from 28 tumors and gene panel sequencing from 27 tumors were available. Results: The median age of the patients was 6 years (range, 2-17.5 years), and 66 of 70 patients had supratentorial tumors. DNA methylation profiling classified 28 of 28 tumors as primary CNS sarcoma, DICER1 mutant. DICER1 mutations were found in 26 of 27 cases, TP53 mutations were found in 22 of 27 cases, and RAS-pathway gene mutations (NF1, KRAS, and NRAS) were found in 19 of 27 tumors, all of which were somatic (germline control available in 19 cases). The estimated incidence in Peru was 0.19 cases per 100,000 children (<18 years old) per year, which is significantly higher than the estimated incidence in Germany (0.007 cases per 100,000 children [<18 years] per year P <.001). Patients with nonmetastatic disease (n = 46) that were treated with a combination therapy had a 2-year progression-free survival (PFS) rate of 58% (95% CI, 44%-76%) and a 2-year overall survival rate of 71% (95% CI, 57%-87%). PFS was the highest in patients treated with chemotherapy with ifosfamide, carboplatin, and etoposide (ICE) after upfront surgery followed by radiotherapy and ICE (2-year PFS, 79% [59%-100%], n = 18). Conclusions: Primary CNS sarcoma with DICER1 mutation has an aggressive clinical course. A combination of surgery, chemotherapy, and radiotherapy seems beneficial. An underlying cancer predisposition syndrome explaining the increased incidence in Peruvian patients has not been identified so far. Lay Summary: A high incidence of primary pediatric central nervous system sarcomas in the Peruvian population is described. Using sequencing technologies and DNA methylation profiling, it is confirmed that these tumors molecularly belong to the recently proposed entity “primary central nervous system sarcomas, DICER1 mutant.” Unexpectedly, DICER1 mutations as well as all other defining tumor mutations (TP53 mutations and RAS-pathway mutations) were not inherited in all 19 patients where analyzation was possible. These tumors have an aggressive clinical course. Multimodal combination therapy based on surgery, ifosfamide, carboplatin, and etoposide chemotherapy, and local radiotherapy leads to superior outcomes.
Uterine transposition and successful pregnancy in a patient with rectal cancer
(BMJ Publishing Group, 2023) Lopez, A; Perez, Villena, JF; Guevara-Jabiles, A; Davila, K; Sernaque-Quintana, R; Ribeiro, R
It is advised to inform young women who are being considered for uterine transposition about the innovative nature of this technique and the limitations of existing literature. Additionally, all such cases should be thoroughly and thoughtfully discussed in a multidisciplinary meeting to ensure that they are genuinely suitable candidates for this procedure.