Investigation of Hereditary Cancer Predisposition Genes of Patients with Colorectal Cancer: Single-centre Experience.

OBJECTIVE: To investigate the genetic causes of colorectal cancers (CRCs); and to determine the genotype-phenotype correlation. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research, Hospital, Ankara, Turkey, between January 2018 and January 2020. METHODOLOGY: 59 cancer susceptibility genes of 41 patients, included in the study and diagnosed with CRC, were examined using next generation sequencing (NGS) technique. Statistical analysis of the possible relationships among the mutation carrier status of the patients and the parameters of gender, age at diagnosis, and family cancer history, were performed. RESULTS: The mean age at diagnosis of all CRC patients was 48.7 years (range 28-74). Mutations in MLH1, MSH6, CHEK2, PMS2 and MUTYH genes were detected in 10 patients (24.4%). The mean age at diagnosis of CRC was 46.2 years in those who carried the mutation, while it was 49.5 years in those without. Carriers and non-mutation carriers, when compared in terms of age at diagnosis, gender, family cancer history, no significant difference was observed. CONCLUSION: Genes that may cause susceptibility to cancer may play a role in the etiopathogenesis of the CRC. NGS-based multigene panels allow these genes to be detected in the patient and to identify an inherited cancer syndrome. Key Words: Colorectal cancer, Lynch syndrome, Hereditary cancer, Gene, Next generation sequencing.

Protective effects of Nigella sativa oil against carboplatin-induced liver damage in rats.

OBJECTIVE: This study aimed to investigate the protective effects of nigella sativa oil (NSO) against liver damage due to intraperitoneal (i.p.) usage of carboplatin which is commonly used as a chemotherapeutic agent. MATERIAL AND METHOD: Twenty four female Wistar-albino rats (about 200-350 grams each) were divided into 4 groups. Group 1 (n = 6) was administered 4 ml/kg intraperitoneal (i.p.) saline 48 and 24 h before. Group 2 (n = 6) was i.p. administered 4 ml/kg NSO 48 h before and 4 ml/kg saline 24 h before. Group 3 (n = 6) was i.p. administered 4 ml/kg saline 48 h before and 80 mg/kg carboplatin 24 h before. Group 4 (n = 6) was i.p. administered 4 ml/kg NSO 48 h before and 80 mg/kg carboplatin 24 h before. At the end of 48 h, all rats were sacrificed, and liver tissues were put into 10% neutral formalin. After the routine tissue follow-up, histopathological changes and collagen fiber density were evaluated with Hematoxylin-Eosin and Masson's Trichrome staining. Apoptotic index was determined with TUNEL staining. RESULTS: The degeneration in hepatocytes, fiber distribution and density around central vein and portal space was observed in the carboplatin group compared to the control and NSO groups, hepatocyte cords preserved integrity, partial degeneration in hepatocytes and decreased collagen fiber distribution around central vein was noted in the NSO-carboplatin group compared to the carboplatin group. The apoptosis was lower in the NSO-carboplatin group compare with the carboplatin group, but no statistically significant difference was found between the two groups (p = 0.449). CONCLUSION: When used NSO before carboplatin exposure, it may protect against liver damage.

To what extent is risk grouping method successful in deciding surgical staging in endometrial cancer?

PURPOSE: The aim of this investigation was to evaluate the success rate of risk grouping method for staging surgery by exploring the rate of lymph node metastasis (LNM) in patients with endometrial cancer (EC) according to low-risk (LR) and high-risk (HR) groups. METHODS: Patient files were reviewed retrospectively and the data of 268 patients were included in the study who underwent lymph node dissection (LND) for EC. Nodal status, histopathologic type, myometrial invasion (MI), tumor size (TS), and grade (G) were evaluated. In the LR group, all the criteria were required (G 1-2, <1/2 MI, type 1 histology, <2 cm TS), but in the HR group, one of them was enough (G 3 or ≥1/2 MI or type 2 histology or ≥2 cm TS). RESULTS: A total of 84 (31.3%) and 184 (68.7%) patients were grouped LR and HR, respectively. In total, 23 patients had LNM (8.5%) out of 268 surgically staged EC patients. Lymph node metastasis was significantly (p = 0.001) more common in the HR group of patients (2.4%, 2/84 LR vs 11.4%, 21/184 HR). Cancer-specific survival (CSS) rates in groups were 96.8% and 88.6%, respectively (p = 0.009). CONCLUSIONS: In patients with EC, there is a significant difference between LR and HR groups for LNM and CSS rates. But this method of stratification is not adequate to separate them for deciding whether surgical staging is mandatory. Moreover, even most of the HR patients (163/184, 88.6%) are exposed to unnecessary LND. Perhaps they are not really HR and the HR definition needs to be revised.

Peritoneal cytology in endometrial cancer.

AIMS: To investigate whether positive peritoneal cytology (PPC) has an effect on expected survival in endometrial cancer and to present factors that affect PPC occurrence. METHODS: Patient chart information of 224 patients who had been treated at the Ankara Oncology Education and Research Hospital due to endometrial cancer between 1996 and 2006 were retrospectively reviewed. Factors that were likely to have an effect on peritoneal fluid cytology in all patients, such as age, histologic type, grade, myometrial invasion, cervical invasion, tumor size, and lymphatic metastasis, were analyzed. RESULTS: We observed peritoneal cytology, grade, myometrial invasion, cervical stromal invasion, tumor size, and lymphatic metastasis to have a significant effect on survival. Cytology was positive in 20 of 224 patients (8.9%). Statistical analysis revealed a significant effect on PPC occurrence of myometrial invasion, cervical stromal invasion, tumor size, histologic type, and lymphatic metastasis. CONCLUSIONS: Positive peritoneal cytology has a significant effect on survival in endometrial cancer. Positive peritoneal cytology occurrence is influenced by myometrial invasion, cervical stromal invasion, tumor size, histologic type, and lymphatic metastasis.

Primary mucosal malignant melanoma of the cervix: case report and review of the literature.

The incidence of primary mucosal malignant melanoma (PMMM) is 1.3% among all malignant melanomas (MM). Cervical involvement is very rare; the number of cases of cervical PMMM reported so far is around 80. In our patient, a dark color, 2-cm diameter, nonulcerated tumor formation was observed upon examination of the cervix. Tumoral tissue consisted of atypical melanocytic cells containing numerous mitotic figures. In immunochemical studies, S-100, Melan-A, and HMB-45 positivity were observed. The tumor was 20 mm in invasion depth, Breslow IV, and FIGO stage IB1. Radical surgery was followed by adjuvant radiotherapy, and subsequently interferon treatment was applied. Examination and scans 20 months after surgery were free from tumor.

Risk factors of lymph node metastases with endometrial carcinoma.

BACKGROUND: The purpose of this study was to investigate and evaluate risk factors for lymph node metastases (LNM) in cases of endometrial cancer (EC). MATERIALS AND METHODS: A retrospective single institution analysis of patients surgically staged for EC at Ankara Oncology Education and Research Hospital from 1996 to 2010 was performed. Roles of prognostic factors, such as age, histological type, grade, depth of myometrial invasion, cervical involvement, peritoneal cytology, and tumor size, in the prediction of LNM were evaluated. Fisher's exact test and logistic regression analysis were used to assess the effects of various factors on LNM. RESULTS: LNM was observed in 22 out of 247 patients (8.9%) and was significantly more common in the presence of tumors of higher grade, deep myometrial invasion (DMI), cervical involvement, size>2 cm, and with positive peritoneal cytology. Logistic regression analysis revealed that DMI remained the only independent risk factor for LNM. NPV, PPV, sensitivity, and specificity for satisfying LNM risk were 98.0, 19.5, 86.3, and 65.3%, respectively for DMI. CONCLUSIONS: The incidence of LNM is influenced independently by DMI. If data support a conclusion of DMI, LND should be seriously considered.

Pregnancy and delivery after anterior vaginal mesh replacement: a case presentation.

A 36-year-old para 2 woman with Pelvic Organ Prolapse Quantification (POP-Q) stage III anterior prolapse and stress urinary incontinence (SUI) was treated using Polypropylene monofilament anterior vaginal mesh kit. She conceived 3 months after mesh replacement. During pregnancy and after delivery, patient satisfaction was achieved in terms of symptom relief, and surgeon satisfaction was obtained in terms of anatomical results. Three years after cesarean section, she had no incontinence, and on exam, POP-Q score was Ba -2 cm. No mesh complication was noted, and no sexual dysfunction was declared. In summary, vaginal mesh kits can be used satisfactorily for patients with anterior prolapse and SUI who want to be pregnant.

The effect of administering vaginal estrogen to clomiphene citrate stimulated cycles on endometrial thickness and pregnancy rates in unexplained infertility.

OBJECTIVE: Clomiphene citrate (CC) has some negative effects on the endometrium. We aimed to determine the effect of vaginally administered local estrogen (LE) on endometrial thickness (ET) and pregnancy rates in CC stimulated cycles. MATERIAL AND METHODS: This was a prospective randomized crossover study that took place in a university hospital. The patients had received CC due to unexplained infertility (UI). Two different treatment protocols were given sequentially as, either CC+LE or CC alone. Each protocol was planned for two cycles and there was a one-month wash-out period between protocols. The effects of LE on the 3(rd) and 9(th) day, the ovulation day (OD) and 7(th) postovulation day (POD7) were investigated. RESULTS: A total of 6 pregnancies were achieved with 3 patients from each protocol. The ET was 7.6±1.4 mm and 8.3±2.1 mm respectively and significantly different in the CC group and the CC+E2 groups on the OD (p=.039), while these values were 9.7±2.3 mm and 10.9±3.0 mm respectively and significantly different on the POD7 (p=.007). There was no significant difference between the groups for arterial PI values on the OD and POD7. The frequency of thin endometrium (<6 mm) was 15.2% and 12.2% respectively in the CC group and the CC+E2 group on the OD (p=.628) and 5.1% and 1.2% respectively on the POD7 (p=.182). CONCLUSION: Adding vaginal LE to CC stimulated cycles led to a significant increase in ET on the OD and POD7. However, this difference in thickness was not reflected in the pregnancy rates in this study.

Minimally invasive approach to cases of lost intra-uterine device: a 7-year experience.

OBJECTIVES: To evaluate the effectiveness of hysteroscopy and laparoscopy for diagnosis and treatment in women with lost intra-uterine devices (IUDs), and to elucidate the most common extra-uterine locations of lost IUDs. STUDY DESIGN: Retrospective clinical study at Atatürk University Hospital, Erzurum, Turkey. Women with lost IUDs presenting in the last 7 years were referred to the obstetrics and gynaecology clinics. Women whose lost IUDs were removed using a Novak curette were excluded from the study. RESULTS: Of the 55 cases studied, 29 (52.7%) lost IUDs were located inside the uterine cavity, 23 (41.8%) were located outside the uterine cavity, and three (5.5%) were embedded in the myometrium. The most common extra-uterine location of lost IUDs was around the uterosacral ligaments (n=8, 34.7%). Considerable association was found between the position of the uterus and the extra-uterine location of lost IUDs. In all eight cases where the lost IUD was located around the uterosacral ligaments, the uterine position was anteverted and perforation was found on the posterior side of the uterus. IUD removal was performed successfully in 46 women (83.6%) by either hysteroscopy or laparoscopy. CONCLUSIONS: Lost IUDs inside or outside the uterine cavity can be managed by minimally invasive approaches. If an anteverted uterus is seen on laparoscopy, the initial exploration for the lost IUD should be made around the uterosacral ligaments.

Angiomyofibroblastoma of the vulva during pregnancy.

Angiomyofibroblastoma is a rare, benign and recently defined soft tissue tumor. It generally arises from superficial soft tissues, especially from mesenchymal cells in the subepithelial myxoid stromal zone of the vulvovaginal region. The tumor is usually positive for estrogen and progesterone receptor. We report a pregnant woman who developed vulvar angiomyofibroblastoma within 2 months. The tumor was negative for estrogen and progesterone receptor.

Preeclampsia and eclampsia incidence in the eastern anatolia region of Turkey: the effects of high altitude.

OBJECTIVE: Hypertensive disorders of pregnancy remain a leading cause of maternal and perinatal mortality and morbidity. The purpose of this study was to determine the distribution map related to pregnancy toxicosis of provinces in our region and the effects of altitude on hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome and eclampsia. MATERIALS AND METHODS: Patients who were admitted to Atatürk University, Obstetrics and Gynecology Department with preeclampsia, eclampsia and a diagnosis of HELLP syndrome for the 5 years between1998-2002 were chosen. The birth rate was obtained from the health directorate of provinces in our area during the same period. Provinces were divided into two groups by altitude: less than and more than 1500 m above sea level. RESULTS: The rates of HELLP syndrome and eclampsia diagnoses were 1.4 per 10.000 patients living above 1500 m altitude. However, this rate was 0.96 per 10.000 patients living below 1500 m altitude (p < 0.01). The highest rate of eclampsia and HELLP syndrome was seen in the Ardahan province, in 36 patients per 10,000 births, whereas the lowest rate was seen in the Igdir province, 9.9 patients per 10,000 births. CONCLUSION: Altitude contributes to occurrence of HELLP syndrome and eclampsia. Since the rate of pregnancy related hypertension is higher at high altitude, it is vital that these patients should be diagnosed during the early stages of the diseases in order to decrease complications.

A genetic survey of 1935 Turkish men with severe male factor infertility.

Male factor infertility is the sole reason in approximately 25% of couples who suffer from infertility. Genetic factors such as numerical and structural chromosomal abnormalities and microdeletions of the Y chromosome might be the cause of poor semen parameters. The results of karyotype analyses and Y-chromosome microdeletions of 1935 patients with severe male factor infertility, which is the largest series from Turkey, were assessed retrospectively. The frequency of cytogenetic abnormalities among 1214 patients with non-obstructive azoospermia (NOA) and 721 patients with severe oligoasthenoteratozoospermia (OAT) were 16.40 and 5.83% respectively. The overall incidence of Y-chromosome microdeletion was 7.70%. The incidence of Y chromosome microdeletion in patients with NOA and OAT was 9.51 and 1.86% respectively. The abnormality rate increased with the severity of infertility. Some patients (n = 22) were carriers of both chromosomal abnormalities and Y-chromosome microdeletions. Results suggest the need for genetic screening and proper genetic counselling before initiation of assisted reproduction treatment.

Perforated transverse vaginal septum: a rare case of müllerian duct anomaly presenting only primary infertility.

OBJECTIVE: To demonstrate a rare and unusual presentation of transverse vaginal septum (TVS). DESIGN: Case report. SETTING: Department of Obstetrics and Gynecology, Atatürk University, Erzurum, Turkey. PATIENT(S): A woman with complaint of primary infertility presenting TVS. INTERVENTION(S): After comprehensive examination, primary infertility associated with müllerian duct anomaly was surgically treated. MAIN OUTCOME MEASURE(S): Primary infertility and anatomic anomaly. RESULT: After surgical intervention, the patient with primary infertility caused by asymptomatic TVS was successfully conceived. CONCLUSION(S): Anatomic congenital defects may contribute to primary infertility. Suspicious evaluation of all primary infertile couples is needed, because a rare asymptomatic anatomic congenital defect could lie behind the infertility.

Granulocyte macrophage-colony stimulating factor improves impaired anastomotic wound healing in rats treated with intraperitoneal mitomycin-C.

PURPOSE: Intraperitoneal chemotherapy (IPCT) delivers higher local concentrations of cytotoxic drugs than intravenous (i.v.) chemotherapy, but it can adversely affect the healing of intestinal anastomoses if given in the early postoperative period. Intestinal anastomotic leakage is a serious surgical complication. Experimental and clinical studies have shown that the local administration of granulocyte macrophage-colony stimulating factor (GM-CSF) improves would healing. Therefore, we evaluated the effects of locally applied GM-CSF on anastomotic wound healing in rats treated with intraperitoneal mitomycin-C immediately after surgery. METHODS: We performed colon anastomoses in albino rats, which were then divided into three treatment groups. Group A was a control group that received no treatment, Group B was given intraperitoneal mitomycin-C postoperatively, and Group C was given intraperitoneal mitomycin-C with a local injection of GM-CSF postoperatively. We measured bursting pressures and hydroxyproline content, and histologically examined the resected anastomoses on postoperative day (POD) 3. RESULTS: Anastomotic healing was impaired after intraperitoneal mitomycin-C, but this was overcome by the injection of GM-CSF into the perianastomotic area. CONCLUSION: Local GM-CSF administration counteracts the detrimental effects of intraperitoneal mitomycin-C treatment on intestinal anastomoses in rats.

Optimal timing for surgery after adriamycin treatment in rats.

PURPOSE: To determine the optimal timing of surgery after adriamycin treatment, we investigated the time-related effect of adriamycin on wound healing over a long period. METHODS: We divided 119 female Sprague-Dawley rats into seven treatment groups. Group 1 was subjected to laparatomy only. All the other groups were given 8 mg/kg adriamycin intravenously followed by laparotomy on the same day (group 2), 7 days later (group 3), 14 days later (group 4), 21 days later (group 5), 28 days later (group 6), or 35 days later (group 7). On postoperative day 7, the sutures were removed, abdominal bursting pressure was measured, and tissue samples were taken for histopathological evaluation and analysis of hydroxyproline content. RESULTS: Bursting pressures were significantly lower in groups 3, 4, 5, and 6 than in group 1. The hydroxyproline content and histopathological evaluation supported these findings. CONCLUSIONS: Our results showed that the optimal timing for surgery after adriamycin treatment is before the 7th day or after the 35th day. If surgery is performed between these days, there is a high risk of impaired wound healing.