e20612
Background: The use of next generation sequencing (NGS) both at diagnosis and disease progression has allowed us to detect changes in the genetic profile of patients that are potentially ...targetable. In this study we will describe the genetic profile of patients both at diagnosis and disease progression using NGS in tissue sample (TS) and liquid biopsy (LB). Methods: We evaluated 403 patients diagnosed with non-small cell lung cancer (NSCLC) referred to ONCOGENOMICS laboratory from 2016 to 2022 to somatic mutation testing. NGS was performed using the Ampliseq for Illumina FOCUS panel and run on the Illumina MiSeq. The panel targets single nucleotide variants (SNVs) and insertion/deletions (indels), copy number variation (CNVs), and gene fusions in 52 genes associate to solid tumors. Raw data were processed automatically on the BaseSpace Sequence Hub (Illumina) and aligned to the hg19 reference genome The default limit of detection (LOD) was set at 5% allelic frequency (VAF) in tissue samples and 0.5% VAF in ccfDNA samples. The Human Genome Variation Society (HGVS) nomenclature guidelines (http://varnomen.hgvs.org/) were used to annotate identified variants and the ClinVar database (www.ncbi.nlm.nih.gov/clinvar/) was used to determine the biological significance of all reported variants. Results: Of the 403 patients, 351 patients had NGS at diagnosis and 52 patients in disease progression. Regarding the genetic profile at diagnosis, we analyzed 328 tissue samples and 23 liquid biopsies, the most frequent alteration was the EGFR mutation, detected in 116 (33.1%) patients (detection rate TS 32.6% and LB 39.1%), followed by KRAS (15.4%), ALK (2.6%), BRAF (1.9%), and others (4.8%). In the disease progression setting, we analyzed 34 tissue samples and 18 liquid biopsies, the most frequent alteration was the EGFR mutation, detected in 28 (53.8%) patients (TS detection rate 29.4% and LB 44.4%), followed by KRAS (15.4%), ALK (3.9%), and others (3.9%). Conclusions: Peruvian patients are a population with a high mutation rate, in this cohort almost 50% of them had a target mutation, especially the EGFR mutation. Likewise, it was found that the detection rate of the EGFR mutation was higher with NGS in liquid biopsy than in tissue samples, both in the diagnostic and in the disease progression samples. On the other hand, it is important to mention that the frequency of KRAS mutations found is higher than previous Peruvian reports.
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e19258
Background: Immunotherapy has changed the landscape of cancer treatment. The aim of this work was to describe the adverse events related to immunotherapy treatment in diverse ...type of malignant tumors using real-world data. Methods: This is a retrospective review of patients with diverse type of advanced malignancies treated with immunotherapy at Oncosalud-AUNA (Lima-Peru) during the period 2016-2018. We present a descriptive analysis of the clinicopathological and treatment features of the patients, as well as data of safety of immunotherapeutic agents. Results: In total, 37 patients were included in the study. The median age was 67 years (38 to 84 years); 64.9% of patients were male; 54.1% were smoker/former smoker and 45.9% non-smokers. Regarding to the primary tumor, 75.7% were lung cancers (82.1%, adenocarcinomas and 17.9%, squamous cell carcinomas), 16.2% were melanomas, 5.4, head and neck cancers and 2.7%, were bladder cancers. Central nervous system metastases were present in 29.7% of patients. Immunotherapy was given after a first line in 43.2% of cases, 40.5% after the second line and 16.2%, after the third line of treatment. The types of immunotherapy were prembrolizumab in 54.1%, nivolumab in 40.5%, atezolizumab in 2.7% and avelumab in 2.7%. 27% of cases had combination of immuno with chemotherapy. Finally, regarding to adverse events, 94.6% had any adverse event; 48.6% fatigue and asthenia; 35.1%, nausea; 32.4, pruritus/rash; 27.7%, decreased appetite; 18.9%, hypo/hyperthyroidism; 13.5%, diarrhea/colitis; 10.8%, pneumonitis and 5.4%, infusion-related reactions. Conclusions: During the study period we had a slightly higher incidence of adverse events than reported by other works. It could be probably due to the age of patients and several prior lines of treatment.
e23308 Background: Epithelial Ovarian Cancer (EOC) is an heterogenous disease which is usually diagnosed inadvanced stages. Despite the advent of new therapies, the outcomes for this disease remain ...poor in certain scenarios. We describe the clinical features and survival outcomes in a developing country. Methods: Retrospective study based on case review of women with newly diagnosed EOC between 2015 and 2017 at Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima- Peru. Descriptive analysis was conducted for clinical characteristics, epidemiological factors and treatment. PFS was calculated from the date of diagnosis until the first documented progression and OS from the date of diagnosis to death. Both were calculated using the Kaplan Meier curve. Results: 234 patients were included, the most common histology subtype was high grade serous carcinoma (47,5%), followed by mucinous (15.9%) and clear cell carcinoma (15.4%). Median age was 55.7 yo (range 19-88). Breast and ovarian cancer family history were reported in 3.8% and 3.0%, respectively. 35.8% of patients were overweight, and 12.5% were obese. Most patients (61.5%) were diagnosed at advanced disease (III-IV) and the most common site of metastasis was liver (43.6%) and lung/pleural (28.2%). BCRA testing was performed only in 6% of patients, and 4/14 patients had a pathologic mutation. Ca125 was elevated in 86.2% of patients. Regarding treatment, all patients with early stage disease (I-II) underwent surgical staging. For advanced stage disease, 47.6% (69/145) of patients underwent upfront surgery and 41.4% (60/145) received platinum-based chemotherapy in neoadjuvant setting; 57.3% (35/61) of these patients achieved optimal secondary cytoreduction. With a median follow up of 74,4 months, median PFS was 32.61 months (0.6-474) and global median OS was 58.13 months. Median OS for early disease (I-II) was not reached and for advanced disease (III-IV) was 33.73 months. Survival rate at 5y for all stages was 45.2%; 60.8% and 28.4% for early and advanced disease, respectively. Conclusions: These findings highlight the prevalence of high-grade serous carcinoma and the significance of advanced-stage diagnosis in the survival outcomes. In the era of targeted therapies, the lack of access to BRCA detection tests restricts therapeutic options and, consequently, hinders responses in this group of patients.
e20605 Background: Osimertinib is the standard of care for advanced NSCLC patients with EGFR T790M-positive whose disease has progressed to EGFR TKI therapy, however, the knowledge on the real ...benefit of these therapies in the Latin American setting remains unclear due the lack of access in the most countries. The aim of this study is to evaluate the outcomes of Osimertinib as sencond line treatment of advanced NSCLC patients with EGFR T790M-positive in a real-world Peruvian setting. Methods: This is a retrospective study of advanced NSCLC patients with EGFR T790M-positive treated with osimertinib at seven Peruvian institutions between July 2018 and May 2023. Outcomes were objective response rate (ORR), progression-free survival (PFS), overall survival (OS) and OS from the start of first-line treatment to death. Results: We analyzed 41 T790M-positive patients with a median age of 60 years (range 36-87y), most of them were females (65.9%), 17.1% had smoking history and 19.5% biomass exposition as a main risk factor. About diagnosis and clinical features, T790M mutation was detected by liquid biopsy in 29.3% of cases, 36 patients (87.8%) had status performance 0 - 1 (ECOG) and 10 (24.4%) presented brain metastases as progression to the previous line of treatment. About outcomes, the ORR was 70.8%; with a median follow-up of 36 months, the median PFS was 15.2 months (95% IC, 9.6 - 20.7) and median OS since the start osimertinib was 16.3 months (95% IC, 7.6 - 24.9), no differences were found regarding the presence of brain metastases (p = 0.06 and p = 0.32) or type of mutation (p = 0.27 and p = 0.46) in both PFS and OS. Median OS from the start of first-line treatment was 46.6 months (95% IC, 34.5 - 58.7). As supplementary analysis, in the same period of time, 11 T790M-positive patients who did not receive osimertinib as second line of treatment achieved a median OS from the start of first-line treatment of 23.5 months (95% IC, 16.5 - 30.5). This OS was significantly lower compared to those who did receive osimertinib (p = 0.001). Conclusions: This study confirms the efficacy of osimertinib in the real world when used as a second line of treatment in T790M-positive patients, in addition the feasibility of osimertinib in this setting may significantly impact the survival.
1597
Background: For patients with cancer, the COVID-19 pandemic has increased morbidity and mortality due to their bigger susceptibility to infection and to the discontinuity of treatment. In this ...context, telemedicine has become an invaluable tool for cancer care. The purpose of this study is to describe the impact of telemedicine in the care of cancer patients from a Latin American public institution. Methods: Retrospective, descriptive and cross-sectional study of cancer patients who received medical care through telemedicine from the Department of Medical Oncology of the Instituto Nacional de Enfermedades Neoplasicas (INEN) during the COVID-19 pandemic, from March 2020 to February 2021. Data collection was performed in real time by medical oncologists. Impact was mesuared with a comparison between the amount of cancer care during the COVID 19 pandemic vs the previous year. A modified version of the University of Kansas Cancer Center telephone satisfaction survey was conducted. Variables included the process of requesting an appointment by telemedicine, satisfaction with telemedicine service and distribution of drugs. Results: 16 456 telemedicine visits were carried out in one year time, 96.1% were conducted by telephone and only 3.9% used a video communication platform. 73% of patients were female and 62% were in the age group from 31 to 60 years old. 43% corresponded to solid tumors where breast cancer was the most frequent diagnosis. Patients in active treatment represented 70% (n = 11587), with 64% of patients being treated with curative intent and 36% within the palliative setting. Regarding the result of telemedicine visits, 62% (n = 10,281) had a medical prescription (40% corresponded to hormonal therapy; and 19%, to intravenous or subcutaneous systemic treatment). Overall, 8% (n = 56) of cases required an in-person visit. In the annual comparative analysis (against in-person visits during the previous year), the gap was 23% (60%, 20%, 8% and 13% during the first, second, third and fourth quarters, respectively). According to the type of medical care, telemedicine accounted for the 27.6% of the total medical care employed during in the year. The maximum level of usage was in May 2020 with 52% and in February 2021 with 48%, coinciding with the first and second waves of COVID in Peru. The satisfaction survey was applied to 5765 randomly chosen patients from July to October 2020. The mean scores for the 3 variables studied were: 4.6 / 5 points for the process of requesting an appointment, 4.58 / 5 points for telemedicine service and 4.33 / 5 points for the distribution of medicines and orders. Conclusions: Telemedicine is key to guarantee the continuity of care for cancer patients with an adequate level of satisfaction. If the Telemedicine service had not been implemented, the number of medical consultations would have dropped to 40% in comparison to the previous year.
e15027
Background: The optimal treatment of advanced NSCLC patients is currently led by genomic profiling with the goal of detecting actionable mutations with an approved targeted therapy. However, ...tissue DNA samples are not always available to perform this assays. In this context, liquid biopsy has emerged as a valuable tool for providing the best treatment option. Methods: Retrospective study held at Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima - Peru, between January 2019 and September 2021 to assess the genomic profile of 190 newly diagnosed advanced NSCLC patients through liquid biopsy. Blood samples were profiled with the FoundationOne Liquid Biopsy assay. We describe frequency of pathogenic and targetable genetic alterations, as well as the survival outcomes. Genomic and clinical data were recorded from clinical files. Results: The median age was 63 years (26-90), 66.3% were women, 15.3% smokers, 26.3% had exposure to biomass, 22.6% had a first-degree family history of cancer. The most frequent histological type was adenocarcinoma (86.8%). Regarding genomic profile, 183 patients (96.3%) had at least one pathogenic genetic alteration, the most frequent altered genes were TP53 (54.7%), EGFR (50.5%), DNMT3A (17.9%), KRAS (9.5%) and NF1 (6.8%). 116 patients (61%) had a targetable mutation: EGFR Ex19del/ins (27.4%), EGFR L858R/L861Q (17.9%), ALK rearrangements (5.8%), BRAF V600E (3.2%), RET fusions (1.6%), METex14 skipping (1.6%), KRAS G12C (1.6%), ROS 1 (1.1%), and NTRK (0.5%). Of these, 71 patients (65.5%) were able to access target therapy. For the latter, estimated median PFS and OS were 14.0 months (9.3 – 18.6) and 17.8 months (8.2 – 27.4), respectively. Conclusions: Peruvian NSCLC patients represent a population with a high frequency of pathogenic and targetable mutations, being EGFR mutations and ALK rearrangements the most prevalent ones. Despite limited access, a great proportion of patients received target therapy, achieving remarkable survival.
Prostate, breast, colorectal, cervical, and lung cancers are the leading cause of cancer in Latin America and the Caribbean (LAC) accounting for nearly 50% of cancer cases and cancer deaths in the ...region. Following the IARC Code Against Cancer methodology, a group of Latin American experts evaluated the evidence on several medical interventions to reduce cancer incidence and mortality considering the cancer burden in the region. A recommendation to limit the use of HRT was issued based on the risk associated to develop breast, endometrial, and ovarian cancer and on growing concerns related to the over-the-counter and without prescription sales, which in turn bias estimations on current use in LAC. In alignment with WHO breast and cervical cancer initiatives, biennial screening by clinical breast examination (performed by trained health professionals) from the age of 40 years and biennial screening by mammography from the age of 50 years to 74, as well as cervical screening by HPV testing (either self-sampling or provider-sampling) every 5–10 years for women aged 30–64 years, were recommended. The steadily increasing rates of colorectal cancer in LAC also led to recommend colorectal screening by occult blood testing every two years or by endoscopic examination of the colorectum every 10 years for both men and women aged 50–74 years. After evaluating the evidence, the experts decided not to issue recommendations for prostate and lung cancer screening; while there was insufficient evidence on prostate cancer mortality reduction by prostate-specific antigen (PSA) testing, there was evidence of mortality reduction by low-dose computed tomography (LDCT) targeting high-risk individuals (mainly heavy and/or long-term smokers) but not individuals with average risk to whom recommendations of this Code are directed. Finally, the group of experts adapted the gathered evidence to develop a competency-based online microlearning program for building cancer prevention capacity of primary care health professionals.
•The LAC Code Against Cancer 1st ed recommends limiting the use of hormone replacement therapy to prevent breast, endometrial, and ovarian cancer.•The LAC Code Against Cancer 1st ed recommends biennial clinical breast examination, by health professionals, and mammography to prevent breast cancer.•The LAC Code Against Cancer 1st ed recommends HPV testing every 5–10 years to prevent cervical cancer.•The LAC Code Against Cancer 1st ed recommends biennial occult blood testing or endoscopic examination every 10 years to prevent colorectal cancer.
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e12579
Background: Triple negative breast cancer (TNBC) seems to be associated with a hereditary disease cause based on the earlier age of onset, the high rate of TNBC cases with a ...positive family history of cancer, and the higher prevalence of breast cancer susceptibility genes. The impact of family history in breast and/or ovarian cancer (FHBOC) in TNBC overall survival is unclear, we conducted this study to evaluate this factor in a Peruvian cohort. Methods: Retrospectively reviewed the medical files from TNBC patients diagnosed at Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru, from 2000 to 2014. New cases with histologically confirmed TNBC defined as lack of expression of estrogen and progesterone receptors by immunohistochemistry and HER2- were included. A positive FHBOC was defined as a history of breast and/or ovarian cancer in 1
st
, 2
nd
and/or 3
rd
degree relatives at any age. Patients who had three affected relatives in two generations with two of them being first-degree relatives were considered as exhibiting a clinical autosomal dominant (AD) inheritance pattern. Results: 2006 patients, 99.8% were females. Mean age was 50.2 years old (19 - 95) and 54.6% were postmenopausal. According clinical staging: stage I, 7.2%; stage II, 34.2%; stage III, 51.0%; and stage IV, 6.5%. 76.5% of women underwent surgery. 13% (n=266) had a positive FHBOC. Of these, 44.0% (n=117), 35.0% (n=93), and 13.5% (n=36) had 1
st
, 2
nd
, and 3
rd
degree affected relatives, respectively. An AD inheritance pattern was observed in 20.7% (n=55) of patients with FHBOC. With a median follow-up of 80 months (range 0 - 249), 5y-overall survival (OS) for the whole population was 53.8%. 5 year-OS was significantly better in patients with FHBOC as compared to those without it; 64.5% vs. 52.2%, respectively (HR 0.73; 95% CI 0.60-0.88 p=0.001). FHBOC showed a positive impact on survival rates among patients with stages III and IV (5-year OS 42.3% vs. 32.7%; HR 0.79; 95% CI 0.64-0.99, p=0.041) but not in stages I and II (5-year OS 88.4% vs. 81.3%; HR 0.72; 95% CI 0.49-1.08, p=0.11). The 5y-OS for the patients with an AD inheritance pattern was 70.9%. However, pairwise multiple comparison did not find a significant difference between these patients and those with FHBOC without an AD inheritance pattern (62.8%). On multivariate analysis, FHBOC (HR: 0.80; 95% CI 0.66-0.97, p=0.023), had an independent effect on OS, adjusted for age, menopausal status, clinical stage and surgery. Conclusions: A positive FHBOC was associated with an improved survival in patients with TNBC, suggesting FHBOC as an independent prognostic factor. These results need validation and confirmation through additional retrospective cohorts and analysis in prospective clinical trials.
Lung Cancer in the Young Galvez-Nino, Marco; Ruiz, Rossana; Pinto, Joseph A. ...
Lung,
02/2020, Letnik:
198, Številka:
1
Journal Article
Recenzirano
Introduction
Median age at diagnosis of lung cancer is 70 years. Its presentation in patients 40 or younger is uncommon and it has been proposed that maybe it is a different disease due to its ...clinical characteristics and genetic makeup. There are a limited number of studies in this population and they report different clinic-pathological characteristics in comparison with older patients.
Methods
We described the incidence of lung cancer patients diagnosed at age 40 or younger at the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima-Peru; from 2009 to 2017 and evaluated the characteristic of NSCLC. Epidemiologic and clinic-pathological data was collected from clinical files. Analysis was carried out using SPSSvs19 software.
Results
We identified 3823 patients with lung cancer seen at INEN during the study period. Among these, 166 (4.3%) patients were 40 years or younger, and 137/166 (82.5%) were NSCLC. Median age at diagnosis was 36 years (range 14–40 years) and 59.1% of patients were female. A smoking history was present in 14.4% of patients. Frequent symptoms at diagnosis were cough (62.0%), chest pain (51.8%) and dyspnea (40.9%). Adenocarcinoma was the most common histological type (63.3%). Most patients had advanced disease at diagnosis (84.7%). The median overall survival was 8.2 months.
Conclusions
The proportion of young patients with lung cancer in our population is higher than that reported in the most recent literature. Lung cancer in the young is mostly sporadic, more frequent in women, usually adenocarcinoma type and it presents with advanced disease, resulting in a very poor survival.
