Transcriptome analysis of human Leydig cell tumours reveals potential mechanisms underlying its development.

Leydig cell tumours are the most common sex cord-stromal tumours. In the last years, apparent increased incidence is noted while aetiology of the tumour is still unknown. Therefore, here, we focused on the genetics of Leydig cell tumours using the next-generation sequencing. Leydig cell micronodules were revealed in patients with azoospermia who were qualified for testicular biopsy. Complete gene set of Leydig cell tumours was compared with transcriptome of healthy Leydig cells obtained from donors. Bioinformatic analysis of the obtained sequencing data revealed alterations in expression of 219 transcripts. We showed, for the first time, that a significant proportion of differentially expressed genes is directly involved in regulation of apoptotic process, which downregulation might be important to Leydig cell tumour development. Additionally, we found a significant upregulation of heat shock protein genes that might be a unique feature of Leydig cell tumours when compared to other tumour types. Our study offers fundamental transcriptomic data for future studies on human Leydig cell tumour that are crucial to determine its causes. Moreover, presented here the in-depth analysis and discussion of alterations observed in tumour transcriptome may be important for the diagnosis and therapy of this pathology.

Assessment of selected quality of life domains in patients who have undergone conservative or radical surgical treatment for penile cancer: an observational study.

Background Surgery is the standard treatment for organ-restricted penile cancer, but it is also a disfiguring procedure that can profoundly affect quality of life. Using a survey, in this study we assessed the effect of different surgical invasiveness on satisfaction in selected life domains of patients who underwent penile-sparing surgery and partial penectomy. METHODS: Forty patients who underwent penile-sparing surgery (n=13) or partial penectomy (n=27) were enrolled in the study. The response rate was 71%. Information was obtained after surgery on sexuality, self-esteem, masculinity and partner relationships using the International Index of Erectile Function, the Self-Esteem Scale and the Conformity to Masculinity Norms Inventory questionnaires. We evaluated the effect of primary surgery type on selected domains of quality of life and correlations between study variables after surgery. RESULTS: High self-esteem, satisfactory erectile function and masculinity results in both groups were comparable to those in the published literature. Men who underwent less disfiguring treatment had a significantly higher sense of masculinity than those who underwent partial penectomy (P=0.05). No significant differences were observed in erectile dysfunction and self-esteem. The level of aggressiveness of a surgical procedure was a predictor of sense of masculinity (P=0.01), but was not associated with self-esteem and sexual dysfunction (P=0.28 and P=0.55 respectively); 83% of patients were able to satisfactorily maintain partner relationships. CONCLUSIONS: Disfiguring treatments for penile cancer significantly interfere with the sense of masculinity, but sexual functioning and self-esteem do not differ according to the type of surgical procedure. Most men maintained stable partner relationships after surgery, regardless of surgery type.

Assessment of quality of life in patients surgically treated for penile cancer: Impact of aggressiveness in surgery.

PURPOSE: Health-related quality of life (HRQoL) evaluations are being increasingly used for clinical assessment of cancer treatment outcomes. For a patient, not only is life expectancy important, but also a general sense of sustained global health. Intuitively, the more disfiguring the treatment, the more pronounced could be the deterioration in the QoL. We aimed to compare various aspects of QoL in three groups of patients surgically treated for penile cancer by local excision, partial penectomy, or total penectomy. METHODS: HRQoL was assessed in 51 patients surgically treated for penile cancer. Total penectomy, partial penectomy, or wide local excision was performed in 11, 27, and 13 patients, respectively. The EORTC QLQ-C30 questionnaire was used for HRQoL assessment. Relations between the patients and their partners were also assessed. RESULTS: Statistically significant negative correlation was found between aggressiveness of the surgical procedure and both, assessment of global health status (p = 0.04) and physical functioning (p = 0.047). The more aggressive the surgery, the lower was the patients' assessment of their QoL. Among the patients who maintained their partner relations postsurgery, 58.9% declared that their relations postoperatively were not inferior compared to those preoperatively. There was no statistically significant effect of the surgery type on relations with female partners (p = 0.619). CONCLUSION: The magnitude of disfigurement caused by surgical treatment of penile cancer had a significant impact on the selected QoL domains assessed by the EORTC QLQ C-30 questionnaire. There was no correlation between the scope of surgical intervention and partner relations.

Basic issues concerning health-related quality of life.

INTRODUCTION: Chronic diseases such as cancer have a strong influence on both physical health and quality of life, which together comprise the concept of health-related quality of life (HRQoL) - in other words, the complete state of physical, social, and psychological functioning. Herein, we review the literature on the theory of HRQoL in relation to oncological diseases. MATERIAL AND METHODS: A literature search of English-language publications that included an analysis of the conceptual models of HRQoL was performed using PubMed. The data were screened and synthesized by all authors and relevant papers were selected. RESULTS: We outline the theoretical models most often used to conceptualize HRQoL, including the Centre for Health Promotion model from the University of Toronto, the conceptual model of Wilson and Cleary and the contextual model of Ashing-Giwa formulated specifically for cancer patients. CONCLUSIONS: Understanding the theoretical basis of HRQoL is indispensable for valid research in this area.

Quality of life in penile carcinoma patients - post-total penectomy.

INTRODUCTION: Total amputation, as a treatment for advanced penile cancer, significantly debilitates the patient's quality of life and sexual function. The aim of the study was to assess the quality of life in patients who had undergone total penectomy. MATERIAL AND METHODS: The questionnaires EORTC QLQ C-30, SES, CMNI, and a modified IIEF-15 questionnaire, were sent to 11 patients. RESULTS: A total of 10 patients returned the questionnaires completed. The results of the overall quality of life, the median result in individual domains, as assessed by the EORT QLQ C-30 questionnaire, were clearly lower than the reference results. There were statistically significant differences in the results of the QLQ C-30, concerning the role-functioning domain in relation to age (p = 0.008) and education (p = 0.032), in the domain of emotional functioning in relation to education (p = 0.008) and in the domains of physical functioning in relation to the partner relationship (p = 0.032). A significant number of patients were sexually inactive. Sexual activity as defined by touching the area of the pubic symphysis at the scars of the penis, touching and fondling perianal areas or the scrotum and watching things/people that cause excitement was observed in 2/10, 1/10 and 2/10 of patients respectively. In 5/6 of these patients, partnership relationships did not deteriorate, including one patient for whom the relationship actually improved. CONCLUSIONS: The results obtained indicate that total amputation of the penis significantly affects one's sex life and overall quality of life. However, this does not have negative implications in terms of partnership relations, self-assessment or the evaluation of masculinity.

Primary penile cancer organ sparing treatment.

INTRODUCTION: Surgical treatment of penile cancer is usually associated with mutilation; alterations in self-esteem and body image; affecting sexual and urinary functions; and declined health-related quality of life. Recently, organ sparing treatment has appeared and led to limiting these complications. MATERIAL AND METHODS: An extensive review of the literature concerning penile-preserving strategies was conducted. The focus was put on indications, general principles of management, surgical options and reconstructive techniques, the most common complications, as well as functional and oncological outcomes. RESULTS: Analyzed methods, e.g.: topical chemotherapy, laser ablation therapy, radiotherapy, Moh's microscopic surgery, circumcision, wide local excision, glans resurfacing and glansectomy are indicated in low-stage tumors (Tis, Ta-T2). After glansectomy, reconstruction is also possible. CONCLUSIONS: Organ sparing techniques may achieve good anatomical, functional, and psychological outcomes without compromising local cancer control, which depends on early diagnosis and treatment. Penile sparing strategies are acceptable treatment approaches in selected patients with low-stage penile cancer after establishing disease-risk and should be considered in this population.

Urinary incontinence after radical prostatectomy - experience of the last 100 cases.

Radical prostatectomy (RP) is a recognized treatment method of organ-confined prostate cancer. Among post-surgery complications, urinary incontinence is a major one. The aim of this study was to determine the incontinence rate after RP and to analyze factors that might affect it. Between March 2007 and December 2008, 132 RP's were performed at Warsaw Cancer Center. A questionnaire to assess the condition before and after RP was developed by the authors and sent to all treated patients. The questionnaire focused on health status information, function in urinary domain, rate of returning to "normal" activity level as before RP and satisfaction from the treatment. The median age of patients was 62 years. Out of 132 patients 102 subjects (77.2%) responded to the questionnaire. Of all responders, 35 patients (34.3%) reported total urinary continence after RP. After RP 35(34.3%) patients reported total urinary continence and in 55(53.9%) patients urinary incontinence of medium degree was present. In 12 (11.8%) patients significant urinary incontinence developed. The most common cause of urine dripping (82% of patients with any degree of urinary incontinence) was associated with abdominal muscle pressure. No statistically significant association between urinary incontinence and adjuvant radiotherapy after RP or the surgeon performing the RP was found (>0.79, >0.803). Radical prostatectomy carries a certain risk of complications. We observed an 88.2% rate of significant (total and moderate degree) urinary continence. The adjuvant radiotherapy and surgeons, who performed the RP, did not affect the rate of incontinence.

Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.

OBJECTIVE: To investigate the frequency and potential impact of mutations and polymorphisms in the CFTR gene and deletions in AZF locus of the Y chromosome in patients with azoospermia (AZOO), cryptozoospermia (CRYPTO) or oligoasthenoteratozoospermia (OAT) who were to be included in an assisted reproductive technologies (ART) program. STUDY DESIGN: A total of 188 infertile men were enrolled in the study: 100 patients with AZOO, 38 with CRYPTO and 50 with OAT. RESULTS: The CFTR gene mutations or IVS8-5T variant in at least 1 allele was identified with similar frequencies among the AZOO (33%) and CRYPTO (21%) patients; 55% of the AZOO patients with normal spermatogenesis (NS) had mutations in 1 or 2 alleles. The novel R810G mutation in exon 13 was identified in 1 NS patient. The OAT or AZOO patients with Sertoli cell only syndrome (SCO) had mutations in the CFTR gene with similar frequencies to that in the general Polish population. The deletions in the AZF locus were detected in 20% of SCO patients, 11.5% of AZOO patients with maturation arrest and in 5% of CRYPTO patients. The other groups (NS, OAT) did not carry deletions in the region studied. CONCLUSION: Molecular diagnosis of the CFTR gene, Y chromosome deletion analysis and genetic counseling are necessary diagnostic elements for patients with male infertility, especially if the are included in an ART program.