ABSTRACT
BACKGROUND: The SHIVA trial is a multicentric randomised proof-of-concept phase II trial comparing molecularly targeted therapy based on tumour molecular profiling vs conventional therapy in patients with any type of refractory cancer. RESULTS of the feasibility study on the first 100 enrolled patients are presented. METHODS: Adult patients with any type of metastatic cancer who failed standard therapy were eligible for the study. The molecular profile was performed on a mandatory biopsy, and included mutations and gene copy number alteration analyses using high-throughput technologies, as well as the determination of oestrogen, progesterone, and androgen receptors by immunohistochemistry (IHC). RESULTS: Biopsy was safely performed in 95 of the first 100 included patients. Median time between the biopsy and the therapeutic decision taken during a weekly molecular biology board was 26 days. Mutations, gene copy number alterations, and IHC analyses were successful in 63 (66%), 65 (68%), and 87 (92%) patients, respectively. A druggable molecular abnormality was present in 38 patients (40%). CONCLUSIONS: The establishment of a comprehensive tumour molecular profile was safe, feasible, and compatible with clinical practice in refractory cancer patients.
Subject(s)
Neoplasms/drug therapy , Adult , Aged , Aged, 80 and over , Algorithms , DNA Mutational Analysis , Female , Gene Dosage , Humans , Immunohistochemistry , Male , Middle Aged , Molecular Targeted Therapy/methods , Neoplasms/genetics , Neoplasms/metabolism , Precision Medicine/methodsABSTRACT
BACKGROUND: Testicular adrenal rest tumors (TART) frequently occur in patients with congenital adrenal hyperplasia (CAH) and can be detected and treated in childhood as well as in adolescence. Due to the intricate dilimitation to other testicular masses the correct diagnosis of TART can be problematic. An extensive endocrinologic evaluation and ultrasound examination are mandatory. Even though TART are benign lesions a high-dose therapy with glucocorticoid and/or mineralocorticoid suppletion is necessary for protecion or regain of fertility. METHODS: A surgical approach can be considered, depending on stage of disease and response on drug therapy. Consequent treatment and constant therapy monitoring might significantly improve long-term outcome. RESULTS: Currently there is no validated standard therapy concept, which can be explained by the heterogenity of disease patterns progression and the limited data available, respectively. Therefore treatment should be subject to specialized centres.
Subject(s)
Adrenal Rest Tumor/diagnosis , Adrenal Rest Tumor/therapy , Glucocorticoids/therapeutic use , Mineralocorticoids/therapeutic use , Orchiectomy/methods , Testosterone/blood , Adolescent , Adrenal Rest Tumor/blood , Combined Modality Therapy , Humans , Male , Ultrasonography/methodsABSTRACT
Haematuria is the main symptom of malignant diseases of the urinary tract. Hence urine analysis for the detection of microscopic haematuria is an accepted diagnostic procedure in daily urologic practice. Until now there are neither international nor national agreements relating to the definition of microscopic haematuria, the choice of verification procedures and a diagnostic algorithm. As there are diverse reasons for microscopic haematuria the extent of continuative diagnostics should be adapted to the existence of risk factors for a clinically apparent disease. Low-risk patients with asymptomatic microscopic haematuria do not necessarily have to undergo primary cystoscopy if there are no pathological findings on urine cytology or ultrasound examination. Microhaematuria in high-risk patients should lead to a more intensive evaluation of the urinary tract, which should include cystoscopy and imaging of the upper urinary tract. In the diagnostics of microhaematuria you have to be aware of that intermittent bleeding is often characteristic of urothelial malignancies. Therefore, a single negative urine analysis should not lead to abandonment of further diagnostic procedures.
Subject(s)
Hematuria/diagnosis , Hematuria/urine , Ultrasonography/methods , Urinalysis/methods , Urine/cytology , HumansABSTRACT
The wide application of in vitro fertilization (IVF) since the 1980s years has revolutionized the treatment of infertility. Since then more than four million babies have been born following IVF. Diversification of the original IVF has led to many new techniques. Besides the basic procedures such as intrauterine insemination (IUI), IVF and intracytoplasmic sperm injection (ICSI), new techniques such as cryopreservation and genetic analysis have become an integral part of reproductive medicine. This moves patients into the focus of ART who are not "classic" infertility patients. Cryopreservation of unfertilized oocytes and ovarian tissue offers cancer patients the opportunity to preserve fertility. Genetic analysis on polar bodies or embryonic cells can help patients with genetic diseases or carriers of genetic disorders towards a healthy child.
