Display omitted
•Data on clinical implications of BRCA pathogenic variants on female reproductive potential are conflicting.•Preimplantation genetic testing for monogenic disorders (PGT-M) allows ...avoiding transmittance of pathogenic variants.•PGT-M for BRCA carriers is valuable option, but remains controversial and underdiscussed.•Despite PGT technologies have improved pregnancy rate, several important challenges exist with its use.•More efforts are needed to improve PGT techniques and implementation for BRCA carriers.
The detection of germline BRCA1/2 pathogenic variant has relevant implications for the patients and their family members. Family planning, prophylactic surgery and the possibility of preimplantation genetic testing for monogenic disorders (PGT-M) to avoid transmittance of pathogenic variants to the offspring are relevant topics in this setting.
PGT-M is valuable option for BRCA carriers, but it remains a controversial and underdiscussed topic. Although the advances in PGT technologies have improved pregnancy rate, there are still several important challenges associated with its use.
The purpose of this review is to report the current evidence on PGT-M for BRCA1/2 carriers, ethical concerns and controversy associated with its use, reproductive implications of BRCA pathogenic variants, underlying areas in which an educational effort would be beneficial as well as possibilities for future research efforts in the field.
Optimal sequencing of available therapy lines in patients with advanced prostate cancer often poses quite a challenge. The guidelines are sometimes equivocal and clinical trial data are not always ...applicable to a particular patient. There is a difference in availability of therapy options throughout the world. In decision making, a patient as a whole should be taken into consideration, not just the stage and biology of the disease, but also patient's age, performance status, comorbidities, previous therapy lines, drug's safety profile and patient's preferences. This review article will show certain therapeutic options in the treatment of advanced hormone-sensitive prostate cancer and castration resistant prostate cancer: non- metastatic and metastatic. An attempt will be made to clarify the optimal sequencing.
Breast cancer is the most common neoplasm affecting women in the Western world. Many studies are still conducted with the purpose of finding markers that could be used for early diagnosis and/or ...serve as possible reliable prognostic or predictive parameters, but with conflicting results. At present, no markers are available for an early diagnosis of breast cancer For surveillance of patients with diagnosed breast cancer the most widely used serum markers are CA 15-3 and CEA which, in combination with other clinical parameters, could have clinical significance. The most useful and clinically important tissue-based markers in breast cancer are estrogen and progesterone receptors, used as a basis for hormonal therapy, and HER-2 receptors, essential in selecting patients for the treatment with Herceptin. New or potentially new markers for breast cancer include BRCA1 and BRCA2 genes for selecting patients at high risk of developing hereditary breast cancer, as well as urokinase plasminogen activator and inhibitor for assessing prognosis in lymph node-negative patients. Results of tumor and patient genetic analyses including their clinical evaluation will enable application of more individualized and personalized approach in diagnosis and therapy of breast cancer patients.
Various oncological and non-oncological diseases, as well as their treatments, can cause premature ovarian insufficiency and reduce a woman's reproductive potential. Fertility preservation is, ...therefore, becoming an emerging field of reproductive medicine allowing these patients to have their own biological children. The aim of this review is to analyze the importance of ovarian tissue cryopreservation as a fertility preservation method as well as its new role as a hormone replacement treatment. Although ovarian tissue cryopreservation is currently regarded as an experimental procedure, it is rapidly advancing and may become an established fertility preservation method in the near future. This method does not require ovarian stimulation or a subsequent delay in the initiation of cancer treatment. Furthermore, orthotopic ovarian tissue transplantation offers the unique opportunity of spontaneous conception. Due to the restoration of endocrine function following the procedure, ovarian tissue cryopreservation may also be used as tissue hormone replacement therapy in cases of premature ovarian insufficiency, to postpone menopause and prevent its troublesome symptoms and diseases. Even though the role of ovarian tissue cryopreservation as a new anti-aging treatment modality is quite promising, the safety and efficacy of this approach should be investigated in clinical settings.
Fertility after breast cancer treatment Kasum, Miro; Beketić-Orešković, Lidija; Peddi, Parvin F ...
European journal of obstetrics & gynecology and reproductive biology,
02/2014, Letnik:
173
Journal Article
Recenzirano
Odprti dostop
Abstract In many countries of the developed world, there is an increasing trend toward delay in childbearing from 30 to 40 years of age for various reasons. This is unfortunately concordant with an ...increasing incidence of breast cancer in women who have not yet completed their family. The current choice for premenopausal women with breast cancer is adjuvant therapy which includes cytotoxic chemotherapy, ovarian ablation (by surgery, irradiation, or chemical ovarian suppression), anti-estrogen therapy, or any combination of these. Although the use of adjuvant therapies with cytotoxic drugs can significantly reduce mortality, it raises issues of the long-term toxicity, such as induction of an early menopause and fertility impairment. The risk of infertility is a potential hardship to be faced by the patients following treatment of breast cancer. The offspring of patients who became pregnant after completion of chemotherapy have shown no adverse effects and congenital anomalies from the treatment, but sometimes high rates of abortion (29%) and premature deliveries with low birth weight (40%) have been demonstrated. Therefore, the issue of recent cytotoxic treatment remains controversial and further research is required to define a “safety period” between cessation of treatment and pregnancy. Preservation of fertility in breast cancer survivors of reproductive age has become an important issue regarding the quality of life. Currently, there are several potential options, including all available assisted technologies, such as in vitro fertilization and embryo transfer, in vitro maturation, oocyte and embryo cryopreservation, and cryopreservation of ovarian tissue. Because increased estrogen levels are thought to be potentially risky in breast cancer patients, recently developed ovarian stimulation protocols with the aromatase inhibitor letrozole and tamoxifen appear to provide safe stimulation with endogenous estrogen. Embryo cryopreservation seems to be the most established fertility preservation strategy, providing a 25–35% chance of pregnancy. In addition, oocyte freezing can be considered as an alternative in patients who are single and in those who do not wish a sperm donor. Although ovarian tissue harvesting appears to be safe, experience regarding ovarian transplantation is still limited due to low utilization, so the true value of this procedure remains to be determined. Nevertheless, in clinical situations in which chemotherapy needs to be started in young patients facing premature ovarian failure, ovarian tissue preservation seems to be a promising option for restoring fertility, especially in conjunction with other options like immature oocyte retrieval, in vitro maturation of oocytes, oocyte vitrification, or embryo cryopreservation. It seems that in vitro maturation is a useful strategy because it improves oocyte or cryopreservation outcome in breast cancer patients undergoing ovarian stimulation for fertility preservation.
Conjunctival melanoma is a rare but sight and life threatening malignancy. It accounts for 2%–5% of all ocular tumours and 5%–7% of all ocular melanomas with an incidence of 0.2–0.8 per million in ...the Caucasian population with rare cases reported in the non-Caucasians. In recent decades the incidence of uveal melanoma has been relatively stable whilst conjunctival and cutaneous melanoma have shown increasing incidence which may be connected to the result of environmental exposure to ultraviolet light. The dissimilarity in incidence between light and dark pigmented individuals observed in conjunctival melanomas compared to uveal and cutaneous melanomas may be related to differences in their histological structures and genetic profile. Recent molecular biological studies support the fact that each type of melanoma undergoes its own molecular changes and has characteristic biological behaviour. Further studies are required for each type of melanoma in order to ascertain their individual etiology and pathogenesis and based on this knowledge develop relevant preventative and treatment procedures.
SAŽETAK
Rak dojke je najčešći zloćudni tumor u žena koji se može probirom, redovitim kontrolama i zdravstvenim odgojem otkriti u ranim stadijima bolesti i uspješno liječiti. Metode liječenja ...uključuju kirurgiju, kemoterapiju, radioterapiju, endokrinu terapiju, imunoterapiju, ciljanu terapiju te simptomatsko-suportivnu terapiju, koja se primjenjuje ovisno o stadiju bolesti, biološkim obilježjima tumora i općem stanju, dobi i komorbidetima bolesnica. Plan liječenja definira multidisciplinarni tim. S obzirom na pojavnost ove bolesti, mogućnost ranog otkrivanja i mogućeg značajnog učinka terapijskih postupaka na tijek bolesti, potrebno je definirati i pravilno standardizirati pristup u dijagnostici, liječenju i praćenju ovih bolesnica. U tekstu su iznesene smjernice s ciljem primjene standardiziranih postupaka u svakodnevnom radu s bolesnicama s rakom dojke u Republici Hrvatskoj.
PDF
