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1.
Sci Rep ; 14(1): 10632, 2024 05 09.
Article in English | MEDLINE | ID: mdl-38724585

ABSTRACT

While some clinics have adopted abbreviated neoadjuvant treatment for HER2-positive breast cancer, there remains a shortage of comprehensive clinical data to support this practice. This is a retrospective, multicenter study. A total of 142 patients were included in the study who are HER2-positive breast cancer, aged ≤ 65 years, with left ventricular ejection fraction ≥ 50%, received neoadjuvant chemotherapy and underwent surgery at 10 different oncology centers in Türkiye between October 2016 and December 2022. The treatment arms were divided into 4-6 cycles of docetaxel/trastuzumab/pertuzumab for arm A, 4 cycles of adriamycin/cyclophosphamide followed by 4 cycles of taxane/TP for arm B. There were 50 patients (35.2%) in arm A and 92 patients (64.8%) in arm B. The median follow-up of all of the patients was 19.9 months (95% CI 17.5-22.3). The 3-year DFS rates for treatment arms A and B were 90.0% and 83.8%, respectively, and the survival outcomes between the groups were similar (p = 0.34). Furthermore, the pathologic complete response rates were similar in both treatment arms, at 50.0% and 51.1%, respectively (p = 0.90). This study supports shortened neoadjuvant treatment of HER2-positive breast cancer, a common practice in some clinics.


Subject(s)
Anthracyclines , Antineoplastic Combined Chemotherapy Protocols , Breast Neoplasms , Neoadjuvant Therapy , Receptor, ErbB-2 , Trastuzumab , Humans , Breast Neoplasms/drug therapy , Breast Neoplasms/metabolism , Breast Neoplasms/pathology , Breast Neoplasms/mortality , Female , Middle Aged , Neoadjuvant Therapy/methods , Receptor, ErbB-2/metabolism , Anthracyclines/therapeutic use , Anthracyclines/administration & dosage , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Retrospective Studies , Trastuzumab/therapeutic use , Cyclophosphamide/therapeutic use , Cyclophosphamide/administration & dosage , Docetaxel/therapeutic use , Docetaxel/administration & dosage , Taxoids/therapeutic use , Taxoids/administration & dosage , Doxorubicin/therapeutic use , Doxorubicin/administration & dosage , Bridged-Ring Compounds/therapeutic use , Bridged-Ring Compounds/administration & dosage , Treatment Outcome , Aged , Antibodies, Monoclonal, Humanized
2.
Oncol Res Treat ; 47(6): 262-272, 2024.
Article in English | MEDLINE | ID: mdl-38583428

ABSTRACT

INTRODUCTION: The optimal management of relapsed/refractory germ cell tumors remains unsettled. In this study, we aimed to evaluate the efficacy of high-dose chemotherapy (HDCT) and autologous stem cell transplantation (ASCT) as salvage therapy in patients who progressed after at least one line of cisplatin-based chemotherapy. METHODS: We retrospectively reported the results of 133 patients who underwent HDCT and ASCT as salvage therapy from 2016 to 2021. Patients received 3 cycles of paclitaxel, ifosfomide and cisplatin (TIP) regimen as induction and 1 cycle of carboplatin 700 mg/m2 on days 1-3 plus etoposide 750 mg/m2 on days 1-3, followed by ASCT. Demographic and clinicopathological features of patients, the International Germ Cell Cancer Collaborative Group (IGCCCG) risk group at diagnosis, serum alpha-fetoprotein (AFP) and beta-human chorionic gonadotropin (HCG) levels before HDCT, treatment-related complications and survival outcomes were recorded. RESULTS: The median age of the patients was 31 (range 18-62). The median follow-up was 31.1 months (95% CI, 28.9-33.3 months). During the median follow-up period, 74 of the 133 patients were still alive, and 63 of these were in complete remission. The median progression-free survival (PFS) was 25.8 months (95% CI, 8.1-43.4 months). The 2-year PFS rate was 50.3% and the 2-year overall survival (OS) rate was 60.8%. Variables that remained statistically significant in multivariable analysis and were associated with poor prognosis were mediastinal primary tumor location, presence of brain metastases, and higher AFP and HCG levels at baseline. CONCLUSION: One course of HDCT and ASCT after induction with TIP is an effective and feasible treatment option for salvage treatment of relapsed/refractory germ cell tumors, with cure rates of up to 60%.


Subject(s)
Antineoplastic Combined Chemotherapy Protocols , Hematopoietic Stem Cell Transplantation , Neoplasm Recurrence, Local , Neoplasms, Germ Cell and Embryonal , Salvage Therapy , Transplantation, Autologous , Humans , Salvage Therapy/methods , Neoplasms, Germ Cell and Embryonal/therapy , Neoplasms, Germ Cell and Embryonal/pathology , Neoplasms, Germ Cell and Embryonal/mortality , Adult , Male , Middle Aged , Retrospective Studies , Young Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Adolescent , Hematopoietic Stem Cell Transplantation/methods , Female , Etoposide/therapeutic use , Etoposide/administration & dosage , Cisplatin/therapeutic use , Cisplatin/administration & dosage , Carboplatin/therapeutic use , Carboplatin/administration & dosage , Ifosfamide/administration & dosage , Ifosfamide/therapeutic use , Treatment Outcome , Combined Modality Therapy , Paclitaxel/administration & dosage , Paclitaxel/therapeutic use
3.
Mutat Res ; 827: 111831, 2023.
Article in English | MEDLINE | ID: mdl-37453313

ABSTRACT

OBJECTIVE: Hereditary cancer syndromes constitute 5-10% of all cancers. The development of next-generation sequencing technologies has made it possible to examine many hereditary cancer syndrome-causing genes in a single panel. This study's goal was to describe the prevalence and the variant spectrum using NGS in individuals who were thought to have a hereditary predisposition for cancer. MATERIAL AND METHOD: Analysis was performed for 1254 who were thought to have a familial predisposition for cancer. We excluded 46 patients who were carrying BRCA1/2 variants in this study, for focusing on the rare gene mutations. Sequencing was performed using the Sophia Hereditary Cancer Solution v1.1 Panel and the Qiagen Large Hereditary Cancer Panel. The Illumina MiSeq system was used for the sequencing procedure. The software used for the data analyses was Sophia DDM and QIAGEN Clinical Insight (QCITM) Analyze. The resulting genomic changes were classified according to the current guidelines of ACMG/AMP. RESULTS: Pathogenic/likely pathogenic variants were detected in 172 (13.7%) of 1254 patients. After excluding the 46 BRCA1/2-positive patients, among the remaining 126 patients; there were 60 (4.8%) breast cancer, 33 (2.6%) colorectal cancer, 9 (0.7%) ovarian cancer, 5 (0.4%) endometrium cancer, 5 (0.4%) stomach cancer, 3 (0.2%) prostate cancer patients. The most altered genes were MUTYH in 27 (2.1%) patients, MMR genes (MLH1, MSH6, MSH, MSH2, PMS2 and EPCAM) in 26 (2%) patients, and ATM in 25 (2%) patients. We also examined the genotype-phenotype correlation in rare variants. Additionally, we identified 11 novel variations. CONCLUSION: This study provided significant information regarding rare variants observed in the Turkish population because it was carried out with a large patient group. Personalized treatment options and genetic counseling for the patients are therefore made facilitated.


Subject(s)
BRCA1 Protein , Breast Neoplasms , Male , Female , Humans , BRCA1 Protein/genetics , Genetic Predisposition to Disease , Genetic Counseling , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Germ-Line Mutation
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