The prevalances of methylene tetrahydrofolate reductase, prothrombin gene, factor-v leiden mutations in endometrium cancer patients

Son zamanlarda araştırmacılar, trombozun bir kanser komplikasyonu olmaktan daha ziyade kanser oluşumu, gelişimi ve yayılımına neden olan primer patogenetik mekanizma olduğunu düşünerek çalışmaları bu yönde yoğunlaştırmışlardır. Özelikle tromboza ve trombotik olaylara genetik olarak yatkınlığın, bir diğer ifade ile trombofilinin kanser gelişimi açısından risk faktörü olabileceği varsayılarak, trombofiliye neden olan genler ve bunlara ait mutasyonlar çoğu kanser türlerinde araştırılmıştırSon zamanlarda trombofiliye neden olan ve sıklıkla trombozla bağlantısı ortaya konmuş çok önemli genetik mutasyonlar ortaya konmuştur. Bunlardan en önemlileri ve sıklıkla çalışmalarda üzerinde durulan mutasyonlar, faktör 5 Leiden genine (özellikle G1691A, A4070G, A5279G bölgeleri), protrombin genine (G20210A), ve MTHFR (C677T) genine ait mutasyonlardır. Birçok çalışmada, çeşitli kanser türlerinde bu genetik mutasyonlar incelenmiş, çeşitli sonuçlar ortaya konmuşturLiteratüre göz attığımızda, hiçbir jinekolojik kanser türünde bu üç genetik mutasyon varlığının birlikte araştırılmadığını ve özellikle endometrium kanserinde benzer bir çalışma olmadığını saptadık. Böylelikle sık rastlanan bir jinekolojik kanser türü olan endometrium kanserinde faktör 5 Leiden genine (özellikle G1691A, A4070G, A5279G bölgeleri), protrombin genine (G20210A), ve MTHFR genine ait mutasyonların incelenmesi hedeflendiBu çalışmaya, Selçuk Üniversitesi Meram Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı'na Ağustos 2006 ve Ağustos 2008 yılları arasında benzer şikayetlerle (çoğunlukla postmenopozal kanama ve disfonksiyonel uterin kanama) başvuran ve histopatolojik incelemesinde endometrium kanseri ve proliferatif endometrium, sekretuar endometrium, endometrit vs gibi benign endometrial patoloji tanısı konulan toplam 216 hasta dahil edilmiştir. Çalışmada 2 hasta grubu oluşturuldu. 1. hasta grubunda 105 adet endometrioid tipte endometrium adenokarsinom vakası, 2. hasta grubunda 111 adet endometrial örneklemesi yapılıp, patolojisi benign rapor edilen hasta yer aldıHer iki grup, protrombin gen (G20210A), faktör 5 gen (G1691A, A4070G, A5279G) ve MTHFR gen (C677T) bölgelerine ait mutasyon sıklığı bakımından kıyaslandığında, istatistikî olarak anlamlı farklılık tespit edilmedi (sırasıyla p=0.743, p=1.000, p=0.995). Sonuç olarak endometrium kanserinde bu üç gene ait mutasyon sıklığında bir artış olmadığı saptandı. Ayrıca, genetik mutasyonların farklı kombinasyonlarının veya her üçünün birlikteliğinin endometrium kanseri ile ilişkisi olmadığı tespit edildiAynı zamanda, endometrium kanserinde rol oynayan prognostik belirteçler ile genetik mutasyonlar arasında bir ilişki olmadığı saptandıEndometrium kanseri, trombofili ve trombofili ile bağlantılı protrombin gen (G20210A), faktör 5 gen (G1691A, A4070G, A5279G) ve MTHFR gen (C677T) bölgelerine ait mutasyonlar arasında ilişki görünmemektedir. Bu hastalarda, rutin olarak tetkik edilmesi faydasızdır ve de oldukça maliyetlidir, prognoz üzerine de belirli katkısı bulunmamaktadır.Currently, researchs are focused on the way that thrombosis itself is a primary pathogenetic mechanism that promotes cancer development and progression, rather than being a complication of cancer. Especially, estimating thrombophilia itself as a risk factor for cancer development, genes related with thrombophilia and mutations on these genes are carefully investigated in many cancer typesNowadays, there are several proven important genetic mutations related with thrombosis and thrombophilia. The most important and mostly investigated ones among all are, mutations on factor 5 Leiden gene ( especially G1691A, A4070G, A5279G loci), prothrombin gene (G20210A locus), and MTHFR gene (C677T locus). In many studies, these mutations were investigated in several cancer types, several results were reportedWhen we look at literature, we detected that there are no studies considering these three mutations together in any gynecologic cancer and especially there are no studies related with endometrium cancer. In this study, our aim was to investigate the frequency of mutations on factor 5 Leiden gene ( especially G1691A, A4070G, A5279G loci), prothrombin gene (G20210A locus), and MTHFR gene (C677T locus) in endometrium cancer patients216 patients who admitted to Selcuk University Meram Faculty of Medicine Obstetrics and Gynecology Department between August 2006 and August 2008 with similar complaints (such as postmenopausal bleeding and disfunctional uterine bleeding) and those with the histopathological result of endometrium adenocancer and benign endometrial pathologies such as proliferative endometrium, secretory endometrium, endometritis etc were included into the study. Patients were divided into 2 groups. In the 1st group, there were 105 endometrioid type endometrium adenocarcinoma patients and in the second group, there were 111 patients whose endometrial pathology result was reported as benignWhen 2 groups are compared according to frequencies of mutations on factor 5 Leiden gene ( especially G1691A, A4070G, A5279G loci), prothrombin gene (G20210A locus), and MTHFR gene (C677T locus), there were not any statistically significant differences between groups (respectively p=0.743, p=1.000, p=0.995). As a result we concluded that there is no increase in frequencies of these three genetic mutations in endoometrium cancer cases. Besides, is also concluded that there is not any association of different coexistences of these genetic mutations with endometrium cancerIn our study, our last conclusion is that there is not any association between these genetic mutations and prognostic markers of endometrium cancerThrombophilia and mutations on thrombophilia related genes, factor 5 Leiden gene ( especially G1691A, A4070G, A5279G loci), prothrombin gene (G20210A locus), and MTHFR gene (C677T locus), seem unrelated with endometrium cancerIn endometrium cancer patients, routine examination of these genetic mutations is unnecessary and expensive, also has no benefit on determination of prognosis

The Comparison of Depression Anxiety and Quality of Life Levels Among Trimesters of Pregnancy

OBJECTIVE: To compare the levels of depression, anxiety and quality of life among trimesters of pregnancy. STUDY DESIGN: A total number of 200 patients;50 pregnant women from each trimester and 50 control group women who are not pregnant but with similar sociodemographic characteristics were included. To determine the levels depressive and anxiety symptoms and quality of life were performed the Beck Depression Inventory (BDI) the Beck Anxiety Inventory (BAI) and the World Health Organization Quality of Life Assessment Brief (WHOQOL-BREF), respectively. RESULTS: While BDE and BAE points in pregnant were indifferent between trimesters; these points were found significantly higher compared with control group. There were significant differences for WHOQOL-BREF and the lowest quality of life was present at 3rd trimester. CONCLUSION: The levels of anxiety and depression were high, and quality of life was low in all trimesters, especially at 3rd trimester. Especially at advanced stages of pregnancy; the health care givers should evaluate pregnant women for depression and anxiety

Heterotopic Pregnancy Following Intrauterine Insemination: A Case Report

A 30 years old patient admitted to our clinic with severe pelvic pain and vaginal bleeding. In history, it was also learned that she had been pregnant for triple gestation after intrauterine insemination. She was advanced anemic by inspection. Patient was evaluated by transvaginal ultrasonography, there were three gestational sacs and fetuses with fetal heart movements and CRL values correlated with 10th week of gestation within the uterine cavity. Left adnexal area was normal, but there was an ectopic gestational sac and fetal echo on the right tuba-ampullary region. There was also hematoma adjacent to the ectopic focus and large amounts of fluid within the abdominal cavity. Laparotomy was planned. Salpingotomy was performed, and ectopic focus was taken out. On the postoperative 3rd day, since patient was stabilized, she was discharged from hospital. Triple gestation is still being followed-up at 20 weeks without any problem

An Atypical Presentation of Late Postpartum Hemorrhage: A Case Report

In this case report, late postpartum cyclic uterine bleeding is demonstrated and is unique in literature with its clinical course. A 21 year old patient admitted with massive vaginal bleeding. It was learnt that the patient had cesarean delivery 40 days ago. In pelvic examination there was active vaginal bleeding. The uterine involution was completed. In ultrasonography uterus was normal and there was not any placental rest in uterine cavity. In laboratory; hemoglobin was 7.2gr/dl, other values were normal. Oxytocin infusion, methylergobasine maleate and antibiotic were administered. Blood transfusion was done. Patient was discharged after follow-up. Patient admitted twice again with same symptoms with 1 month intervals. Laparotomy was planned. During laparotomy, uterine incision site was opened. Hemorrhage was present within endometrial cavity. There were vessels bleeding on the right side of incision and 2x2 cm sized rest of amniotic membrane. The rested tissue was extirpated and vessels were sutured. The patient was discharged after 3 days of follow-up

Hysteroscopic Outcomes in Our Clinic: 5 Years Experience

OBJECTIVE: The documentation of outcomes of hysteroscopic procedures carried out at Selcuk University, Meram Medicine Faculty, Obstetrics and Gynecology Department in 2002–2006 years. STUDY DESIGN: 248 patients that have undergone hysteroscopy were included into the study. Operative indications and results were detected retrospectively. RESULTS: There were 94 primary infertile patients, in 17 of these polypectomy, in 8 patients diagnostic hysteroscopy together with laparoscopy, in 47 patients uterine septum resection and in 22 patients hysteroscopic synechiolysis for Asherman’s syndrome were carried out. There were 118 secondary infertile patients who had hysteroscopy for diagnostic purposes together with laparoscopy in 15 patients, for septum resection in 40 patients who had uterine anomaly, for habitual miscarriages in 25 patients, for polypectomy in 18 patients, for synechiolysis in 20 Asherman’s syndrome patients. There were 7 patients with dysfunctional uterine bleeding and hysteroscopic endometrial ablation was performed for these patients. In 9 patients hysteroscopy was done to take out ectopic intrauterine device. In 8 patients hysteroscopic polyp extirpation and in 12 patients hysteroscopic sub-mucosal myomectomy was performed. Among 248 hysteroscopic procedure, 8 cases were complicated with uterine rupture, there were no other major complications related to procedure, so our complication rate was 3.2%. CONCLUSION: Hysteroscopic procedures can be carried out for several indications and do not have frequent severe complication risks. The mostly seen complication is uterine rupture. In our series we have detected only 8 uterine rupture (3.2%)

Recurrent Hydatiform Mole: Report of A Case with Fourth Recurrence

In this report, it is objected to demonstrate 4th recurrence of molar pregnancy in a patient with a past history of 3 suction curettages for 2 complete and 1 partial moles. A 31-year-old woman was referred to our hospital with diagnosis of mole. There was no history of consanguinity. The mother of the patient had history of molar pregnancy and both sisters had primary infertility and IVF failures. Karyotype analysis of the patient and her husband was normal. The calculated serum β-hCG level was 188000IU/ml and she had an endometrial thickness of 40mm with a crumb like image. Thyroid function tests were normal. Suction curettage was performed and histopathological examination revealed complete HM. The patient is still being followed up with serial serum β-hCG levels. Families who have recurrent molar pregnancies should be informed about that subsequent pregnancies are at increased risk of having molar conception

Management of a Viable Ectopic Pregnancy on Caesarean Scar After IVF-ET Procedure: A Case Presentation

To present the management of a viable ectopic pregnancy on caesarean scar following IVF-ET procedure. A 33-year old woman with gravida 2, parity 1 admitted to our outpatient clinic in her 8th weeks of gestation. She had a previous caesarean section 4 years ago. Transabdominal ultrasound examination revealed empty uterine cavity and cervical canal, but an intramural viable gestation near the cesarean scar. Laparotomy was performed. The gestational sac was bulging and thinning out the uterine wall anteriorly at the scar site. We evacuated the products of conception and repaired scar. After 2 hours from the operation an abundant vaginal bleeding occurred and an emergent relaparatomy performed. No active bleeding focus could be detected but bilateral uterine arteries were ligated. As a result, caesarean scar pregnancy is a highly complicated type of ectopic pregnancy and should be kept in mind during routine obstetric practice

Mature Cystic Teratoma Complicated with Pseudo - Meigs Syndrome and Elevated CA-125 Level in Puerperium: A Case Presentation and Review of the Literature

This report presents a mature cystic teratoma complicated in puerperium with acute abdominal pain, diffuse ascites, hydrotorax and adnexial mass. A 42 years old multiparous patient, admitted to our clinic with abdominal distension, dyspnea, and diffuse abdominal pain. It was learnt that patient had normal spontaneous vaginal live birth 10 days earlier. There was a 6 cm sized cystic lesion with solid components originating from left adnexial area on pelvic ultrasonography. Besides, there was diffuse ascites. Abdominal CT revealed high probability for dermoid cyst or ovarian malignancy. CA-125 levels were increased. During laparotomy, 3000cc of ascites was drained and left salphingoopherectomy was performed. Frozen section result was benign. Exact pathology result was reported as mature cystic teratoma. In puerperal period, benign ovarial pathologies should be kept in mind in patients presenting with diffuse ascites and ovarial mass

Early Prenatal Sonographic Diagnosis of Lethal Arthrogryposis Multiplex Congenita: A Case Presentation

In this report, a 32 years old woman with increased nuchal translucency at 11th weeks of gestation and the diagnosis of Arthrogryposis Multiplex Congenita is demonstrated. After informing the family, chorion villus sampling (CVS) was performed. Fetal chromosomal analysis was reported as normal (XX). On control, lower and upper extremities had flexion contractures in 2D obstetrical ultrasonographic examination, besides bilateral club foot and absence of movement was detected. The family was informed and pregnancy was terminated. Lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at early weeks of gestation

Metastatic Ductal Carcinoma of the Mammary Diagnosed During Pregnancy: A Case Report

To report a case of an invasive ductal carcinoma of the mammary diagnosed in the 3rd trimester of pregnancy. A 30-year-old woman, with gravidity 2, parity 1 and presenting at the 29th week of gestation was referred to our centre with the complaint of a palpable hard breast mass. Examination of the mammary revealed few 0,5-1 cm hard mobile mass. The ultrasonography revealed heterogenous hypoechoic noduler lesions sized 7x5mm and 6x4 mm at the level of 11 o’clock, 16x12 mm at the level of 8 o’clock, 6,5x5 mm at the level of 7 o’clock, 6x7 mm at the level of 6 o’clock on the right mammary. We performed biopsies from the leisons and the pathology result was reported as inflammatory type of ductal carcinoma. Abdominal ultrasonography revealed a 1,5x1,6 cm of hypoechoic lesion with undistinguished borders. Radical mastectomy after a neoadjuvant chemotherapy was planned. A course of adriamycin+cyclophosphamide therapy was administered. At the 33rd week of gestation caesarean section was performed because of oligohydramniosis. Modified radical right mastectomy following neoadjuvant chemotherapy was performed after delivery. After the operation cisplatin+etoposide+5-fluorouracil therapy and radiotherapy was adminstered. In her 13rd month of follow up gemsitabin+zolandronik acid therapy was started because of bone metastasis. After 18 months with the detection of the carcinoma in the left breast left mastectomy was performed. The patient is still being followed up and the first course of cisplatin+etoposid+5-fluorouracil chemotherapy has been given. The prognosis of the breast cancer in pregnancy is same with those in non pregnant. But the physiological changes of the breast during pregnancy can delay the diagnosis and the patients can be detected in late stages