PubMed Health⌕ Search

Biomedical subjects

Sonia Pernas

Publications and source records attributed to Sonia Pernas.

2 recordsLinked to original sources

Longitudinal Clinical, Physiological, and Molecular Profiling of Female Patients With Metastatic Cancer: Protocol and Feasibility of a Multicenter High-Definition Oncology Study.

PURPOSE: A substantial proportion of patients receiving genomically matched therapies do not achieve clinical benefit, underscoring the influence of nongenetic factors on cancer outcomes. High-Definition Oncology (HDO) proposes integrating longitudinal, multimodal patient data-spanning clinical, molecular, physiological, and behavioral domains-to enable truly individualized cancer care. This manuscript describes the HDO study design, framework, and feasibility results in women with metastatic cancer. METHODS: We initiated a prospective, multicenter observational study (HDO study; ClinicalTrials.gov identifier: NCT06590506) enrolling 300 female patients with newly diagnosed metastatic breast, lung, or colorectal cancer. Here, we report the study design, standardized workflows, prespecified feasibility criteria, and early internal pilot results. Eleven data modalities are collected longitudinally, including tumor and germline genomics, germline epigenomics, gut microbiome, blood and stool metabolomics and proteomics, exposome characterization, wearable-derived physiological monitoring, digital footprint assessment, medical imaging, and patient-reported outcomes. Standardized workflows govern clinical procedures, data acquisition, biospecimen processing, and quality control across all participating sites. RESULTS: Feasibility was evaluated in the first 30 participants (10% of planned accrual). Patients completed 100% of scheduled clinical visits, 97.4% of planned plasma collections, 80.7% of stool samples, and all tumor biopsies. Wearable devices captured activity, heart rate, sleep, and blood oxygen saturation data during 95.0%, 84.2%, 90.6%, and 70.7% of total patient-days, respectively. Biospecimens met predefined quality control metrics across all molecular modalities. Engagement with mobile applications for pain and emotion reporting exceeded 80%. CONCLUSION: The HDO study demonstrates the feasibility of comprehensive, longitudinal, multimodal data collection in women with metastatic cancer. This internal pilot establishes an integrated framework for future analyses aimed at characterizing disease trajectories, defining molecular and physiological determinants of outcomes, and developing patient-specific computational models.

Humans↗

[Angiosarcoma in an irradiated breast: a case description].

Post-radiotherapy cutaneous angiosarcomas have been described in different locations, including the breast. We present a case of cutaneous angiosarcoma of the breast, diagnosed 6 years after a carcinoma of the breast had been treated with radiation. The patient was a 44-year-old female with a history of ductal carcinoma (CA) of the right breast treated with tumorectomy, axillary lymphadenectomy, chemotherapy (FEC) and radiotherapy, who 6 years later presented with a violaceous, indurated plaque with a satellite nodule on the same breast. The histology of the skin biopsies showed angiomatous proliferation throughout the entire dermis, with no cellular atypia. Considering the patient's symptoms, history and the changes observed via mammography, it was decided to completely excise the lesion followed by a simple mastectomy, with the diagnosis of angiosarcoma being confirmed. The patient was later treated with paclitaxel, and the disease was apparently controlled. Despite this fact, two years and one month later, the angiosarcoma recurred on the internal area of the mastectomy scar. The patient was treated with paclitaxel, and surgical excision of the lesion area was once again performed. This complication usually appears 5-10 years after treatment with radiotherapy, so angiosarcoma should be ruled out if any angiomatous lesions later appear on skin that had been irradiated.

Adult↗