Analysis of 10 Adrenocortical Carcinoma Patients in the Cohort of the Precision Medicine Platform MONDTI

التفاصيل البيبلوغرافية
العنوان: Analysis of 10 Adrenocortical Carcinoma Patients in the Cohort of the Precision Medicine Platform MONDTI
المؤلفون: Gerald W. Prager, Oskar Koperek, Markus Kieler, Matthias Unseld, Leonhard Müllauer, Daniela Bianconi, Markus Raderer
المصدر: Oncology. 94:306-310
بيانات النشر: S. Karger AG, 2018.
سنة النشر: 2018
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Targeted therapy, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Predictive Value of Tests, Internal medicine, Progesterone receptor, Adrenocortical Carcinoma, Biomarkers, Tumor, medicine, Humans, Adrenocortical carcinoma, Molecular Targeted Therapy, Precision Medicine, In Situ Hybridization, Fluorescence, beta Catenin, medicine.diagnostic_test, Molecular pathology, business.industry, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Prognosis, medicine.disease, Immunohistochemistry, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, Personalized medicine, business, Fluorescence in situ hybridization
الوصف: Objective: Adrenocortical carcinoma (ACC) is a rare disease with a dismal prognosis. We aimed to evaluate if a personalized medicine approach may be useful for matching patients with ACC to targeted therapies. Methods: This is an analysis of 10 molecularly profiled ACCs that were progressing under standard of care treatment. The profile consisted of a 50-gene next-generation sequencing panel, immunohistochemistry (IHC), and fluorescence in situ hybridization for several proteins or chromosomal aberrations. Results: In 6 (60%) tumor samples, no somatic mutation was detected, while in 3 (30%) tumors 1 mutation was detected and in 1 (10%) tumor 2 mutations were detected. These mutations were CTNNB1 (2 samples), TP53 (1 sample), RB1 (1 sample) and APC (1 sample). Expression of phospho-mTOR and of EGFR was commonly detected by IHC (87.5 and 62.5%). In 4 (50%) samples, IHC revealed a weak expression of progesterone receptor. Less frequent alterations were expression of PDGFR-α, c-KIT, and estrogen receptor, each in 1 case. Conclusions: Based on the molecular profile, no recommendation for targeted therapy was made by the multi-disciplinary team. Currently, ACC might not be suitable for a precision medicine approach according to our tests.
تدمد: 1423-0232
0030-2414
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4066abce1e574f4040cb18b6afdea0acTest
https://doi.org/10.1159/000486678Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....4066abce1e574f4040cb18b6afdea0ac
قاعدة البيانات: OpenAIRE