Transvaginal Biopsy Research Articles

Ultrasound-guided transvaginal biopsies of pelvic lesions: diagnostic yield, safetyprofile, and technical considerations over a 20-year experience.

To evaluate diagnostic yield, safety profile, and specific technical considerations of transvaginal ultrasound (TVUS) guided biopsy/aspiration. TVUS guided biopsy (core, FNA) procedures with pre-procedure CT/MRI imaging at a single institution between 2001 and 2021 were reviewed. Relevant patient demographic data was extracted via the Electronic Health Record (EMR), technical details of the biopsy procedure were collected, and distance to target via transvaginal and transabdominal biopsy approach was measured on pre-procedure imaging. Surgical pathology was reviewed and assessed for concordance. Complications were assessed. Statistical analysis was performed using SPSS. 96 TVUS procedures (mean age, 58.7 ± 15.2years; mean BMI, 27.4) were reviewed. TVUS guided approach decreased the distance to target (mean, 1.1cm vs 8.6cm transabdominal; p < 0.0001) and created a safe path not otherwise available in two patients. Average lesion size was 4.0 ± 2.1cm (IQR 2.5, 5.2cm) and targets at or above the vaginal cuff (0.9 ± 1.5cm) and up to 0.5 ± 1.0cm above the acetabular roof were accessible. 75 (78%) cases were core biopsies (18G; median, 2 passes) and 21 were FNA. Conscious sedation was used in 84.4% (n = 81) of cases and local anesthetic was also used in 84.4% (n = 81) of cases. Overall diagnostic yield was 98.9% (n = 94) with 94.7% (n = 89) cases confirmed as concordant diagnoses, including 57.4% (n = 54) malignant. Complications occurred in eight patients (8.3%), all minor. No post-biopsy infections were encountered regardless of administration of pre-procedure antibiotics (n = 14, 14.6%,), documentation of sterile prep (n = 92, 95.8%), or speculum use (n = 19, 19.8%). 50% (n = 48) had a prior hysterectomy, with no association with adequacy or complications (p = 0.9). Transvaginal biopsy of pelvic lesions offers excellent diagnostic yield and favorable safety profile, and can dramatically decrease distance to target. Ultrasound-guided transvaginal approach offers a safe and effective way to biopsy pelvic lesions in women.

Contribution of Outpatient Ultrasound Transvaginal Biopsy and Puncture in the Diagnosis and Treatment of Pelvic Lesions: A Bicenter Study.

The use of transvaginal ultrasound guided biopsy and puncture of pelvic lesions is a minimally invasive technique that allows for accurate diagnosis. It has many advantages compared to other more invasive (lower complication rate) or non-invasive techniques (accurate diagnosis). Furthermore, it offers greater availability, it does not radiate, enables the study of pelvic masses accessible vaginally with ultrasound control in real time, and it is possible to use the colour Doppler avoiding puncturing large vessels among others. The main aim of the work is to describe a standardized ambulatory technique and to determine its usefulness. This is a retrospective study of ultrasound transvaginal punctures (core needle biopsies and cytologies) and drainages of pelvic lesions performed on an outpatient basis during the last two years. The punctures were made with local anesthesia, under transvaginal ultrasound guidance with an automatic or semi-automatic 18G biopsy needle with a length of 20-25 cm and a penetration depth of 12 or 22 mm. The material obtained was sent for anatomopathological, cytological and/or microbiological study if necessary. A total of 42 women were recruited in two centers. Fifty procedures (nine punctures, seven drains, and 34 biopsies) were performed. In five cases the punction and drain provided clinical relief in benign pelvic masses. Regarding material of the biopsies performed, 15 were vaginal in women previously histerectomized, finding 10 carcinomas, eight were ovarian tumours in advanced stages or peritoneal carcinomatosis obtaining the appropriate histology in each case, seven were suspicious cervical biopsies finding carcinomas in five of them, three were myometrial biopsies including one breast carcinoma metastasis in the miometrium and a benign placental nodule, and a periurethral biopsy was performed on a woman with a history of endometrial cancer confirming recurrence. The pathological diagnosis was satisfactory in all cases, confirming the nature of the lesion (25 malignant-ten vaginal recurrences of previous gynaecological cancers, eight cases of primary ovarian/peritoneal carcinoma, four new diagnosis of cervical malignant masses, one cervical metastasis of lymphoma, one periurethral recurrence of endometrial carcinoma and one recurrence of breast cancer in the myometrium-and 23 benign). The tolerance was excellent and no complications were detected. The ambulatory ultrasound transvaginal puncture and drainage technique is useful for obtaining a sample for pathological and microbiological diagnosis with excellent tolerance that can be used to rule out the recurrence of malignant lesions or progression of the disease, diagnose masses not accessible to gynecological exploration (vaginal vault, myometrium or cervix) and for early histologic diagnosis in cases of advanced peritoneal carcinomatosis or ovarian carcinoma as well as drainage and cytological study of cystic pelvic masses.

Resultados perinatales tras prueba diagnóstica invasiva en el embarazo

IntroductionInvasive prenatal diagnostic techniques allow us to conduct genetic tests. The development of non-invasive techniques has reduced their use. The foetal loss rate following an invasive procedure is considered to be around 1%. The published data is heterogeneous however, although everything indicates that the risk has been overestimated, we need to conduct further studies. Material and methodsIn our single-centre retrospective study we analysed the procedures carried out using invasive prenatal diagnostic techniques between 2011 and 2019. A total of 832 invasive techniques were performed. Perinatal results are compared with a control group of pregnant women (n=1734). ResultsThe early foetal loss rate for the different techniques were 1.1% for amniocentesis, 1.6% for transvaginal chorionic biopsy and 5% for abdominal chorionic biopsy, with a total rate of 1.1%, without statistically significant differences between them (P=.57). We found differences in foetal outcome, in terms of variable early foetal loss, related to the attempts made (when three attempts were made, the risk increased). When comparing the perinatal outcomes after delivery of the group that underwent techniques with the control group, a higher rate of caesarean sections was found in the study group (28.9% vs 20.5%), in addition to lower mean gestational age at delivery (38.33 vs. 38.95 weeks). DiscussionWhen the invasive technique is performed at the right time and with no more than two attempts, we consider that the risk of foetal loss is not affected, and is equal to that of the general population.

Retropubic Leiomyoma Causing Urinary Retention: A Case Report

<h3>Study Objective</h3> To present a rare case and the surgical treatment of a retropubic leiomyoma. <h3>Design</h3> Case report illustrated with video. <h3>Setting</h3> We used the da Vinci Si platform in a side docking fashion, with four robotic arms and a laparoscopic 11mm trocar. Uterine manipulator and foley catheter were placed. <h3>Patients or Participants</h3> We present the case of a 39-year-old woman complaining of voiding difficulty, recurrent urinary tract infections and dyspareunia. At the pelvic examination, she had a 4 cm nodule in the anterior vaginal wall, occupying the retropubic space. The complementary investigation with pelvic MRI evidenced an infravesical solid nodular image with lobulated and well-defined contours, located anteriorly to the urethra, with a plane of contact with its anterior wall. It is manifested by intermediate signal on T1 and T2, absence of restriction to the water molecules diffusion and enhancement by contrast medium similar to the myometrium, measuring 3.0 × 3.6 × 3.1 cm. The patient was seen by a urologist which suggested a transvaginal biopsy to exclude malignancy. The biopsy result was leiomyoma. <h3>Interventions</h3> Patient was eligible for a robotic-assisted laparoscopic excision of a retropubic (FIGO 8) leiomyoma. The access to retropubic space was made through the urachus until the pubic bone. The fibroid was easily identified behind the pubic symphysis. Lateral dissection was carried out to identify landmarks and the fibroid was excised using gentle movements. There was no urethral or vesical lesion. The defect was closed with a double layer suture. <h3>Measurements and Main Results</h3> The foley catheter was removed in the first postoperative day and the patient had complete remission of symptoms. The final histopathological report confirmed leiomyoma. <h3>Conclusion</h3> Although being extremely rare, leiomyomas in the Retzius space should be considered in the differential diagnosis of voiding dysfunctions.

Recurrent implantation failure hysteroscopy versus endometrial biopsy

Background: Between all of the complications that might be faced through in-vitro fertilization (IVF), recurrent implantation failure (RIF) management still the greatest challenge due to the total success speeds of IVF in females with RIF is very low, Objective: The purpose of this research is to assess function of Hysteroscopic stimulated Endometrial Biopsy in the Diagnostic of Endometrial Pathology in cases Un-clarified RIF. Design: This was A cross-sectional research. Participants and methods: This study was done on 100 patient attended Sayed Galal hospitals from September 2019 to May 2020 with RIF history. All cases were assessed by full-history tracking including the (Personal, Menstrual, Obstetric and Past), Complete clinical test (General, Abdominal and Local), transvaginal 3D ultrasound, hysteroscopy and biopsy. Samples were gathered to be tested for histopathology to diagnose any disease and to be arranged for computer analysis. Results: Of the 100 cases of infertility with a past of recurrent implantation failure (RIF) experiencing endometrial biopsy guided by hysteroscopy, 59 (59%) exhibited ordinary results and 41 (41%) exhibited anomalous results. Conclusion: For RIF instances, diagnostic hysteroscopy must be a comprehensive examination that assesses the whole uterine cavity and detects hyperemia, mucosal edema, and micro-polyps, which may otherwise be overlooked.

Ultrasound-Guided Trans-Uterine Cavity Core Needle Biopsy of Uterine Myometrial Tumors to Differentiate Sarcoma from a Benign Lesion—Description of the Method and Review of the Literature

Uterine sarcomas are rare, aggressive tumors with poor prognosis that can be further negatively affected by inadequate surgical approaches such as morcellation. There are no clinical and radiologic criteria for differentiating leiomyoma from malignant uterine tumors. However, some ultrasonography and magnetic resonance imaging findings may be informative. We present a technique of ultrasound-guided trans-uterine cavity (UG-TUC) core needle biopsy for uterine lesions. As the procedure is an in-organ biopsy, there is no risk of needle canal contamination. The technique also enables the biopsy of lesions inaccessible by the transvaginal tru-cut biopsy. The core needle of the automatic biopsy system is inserted via the cervical canal into the uterine cavity and is directed and activated at the myometrial lesion under ultrasound control. The standard local treatment of localized uterine sarcomas is en bloc total hysterectomy; for fibroids, there are multiple options including conservative management or tumorectomy and tumor morcellation using minimally invasive techniques. Fragmentation of the sarcoma significantly worsens oncologic outcomes and should therefore be avoided. The UG-TUC core needle biopsy of uterine lesions can complement imaging to obtain sufficient material for histologic and molecular analyses of suspected or undetermined lesions, thus facilitating treatment planning and decreasing the risk of unsuspected sarcomas.

Ultrasound-Guided Tru-Cut Biopsy in Gynecological and Non-Gynecological Pelvic Masses: A Single-Center Experience.

Aim: The aim of this study was to evaluate the feasibility of adequacy, accuracy, and safety of ultrasound-guided tru-cut biopsy in managing malignant and benign abdominopelvic masses in a selected population and critically discuss some issues in different situations, which deserve some reflections on those practices. Materials and Methods: This is a retrospective study involving 42 patients who underwent transvaginal or transabdominal tru-cut biopsy between August 2017 and November 2021. The inclusion criteria were poor health status or primary inoperable advanced tumor, suspicion of recurrence or metastasis to the ovaries or peritoneum in gynecological and non-gynecological pelvic malignancies. Tissue samples were considered adequate if it was possible to determine the origin of the tumor, and immunohistochemistry could be performed. Diagnostic accuracy was assessed considering the agreement between tru-cut biopsy histology and final postoperative histology. Results: It total, 44 biopsies were obtained from 42 patients (2 patients had repeat biopsies). The pathologist considered all pathological samples adequate (adequacy 100%). The final histology was consistent with tru-cut biopsy diagnosis in all but 2 cases (diagnostic accuracy 88.2%). If we consider only the cases that have carried out at least two diagnostic samples, accuracy rose to 94.1%. Pathological examinations from tru-cut samples showed 2 benign lesions (4.8%) and 40 malignant tumors (95.2%), divided into 19 advanced primary inoperable ovarian cancers, 7 primary advanced cervical cancers, 4 recurrent endometrial cancers, 3 recurrent cervical cancers, 3 recurrent ovarian cancers, 1 case of primitive peritoneal malignancy (leiomyosarcoma), and 3 non-gynecological cancers with a strong suspicion of metastases at ultrasound (2 cases of ovarian, colorectal cancer metastasis, and 1 case of pelvic site type B lymphoma metastasis). However, one case of minor complication related to the procedure was reported but not significant. Conclusions: The diagnostic adequacy, accuracy of the tru-cut biopsy, and safety were high. Pathological samples are representative of the disease and suitable for histological and immunohistochemical analysis.

Female Urethral Clear Cell Adenocarcinoma: A Case Report

A 67-year-old female is referred from gynecology due to irritative voiding symptoms, urethral pain, and a vaginal bulge. On exam, a friable lesion can be seen protruding from the urethral meatus, and can be palpated transvaginally to extend proximal to the bladder neck. Transvaginal biopsy demonstrates clear cell adenocarcinoma.

OC06.04: Safety and efficiency of performing transvaginal trucut biopsy for pelvic masses

OC06.04: Safety and efficiency of performing transvaginal trucut biopsy for pelvic masses

An isolated vaginal metastasis from intestinal signet ring cell carcinoma: a case report and literature review

BackgroundIsolated vaginal metastases from intestinal signet ring cell carcinoma are extremely rare. There are no reported cases in the domestic or foreign literature. The characteristics of such cases of metastasis remain relatively unknown. As a life-threatening malignant tumor, it is very important to carry out a systemic tumor examination and transvaginal biopsy, even though clinical symptoms are not typical and there is no systemic tumor history.Case presentationWe present a case of an isolated vaginal metastasis from intestinal cancer in a 45-year-old female patient. The patient experienced a small amount of irregular vaginal bleeding and difficulty urinating. She had no history of systemic cancer. An early physical examination and transvaginal ultrasound (TVS) showed marked thickening of the entire vaginal wall. Pelvic nuclear magnetic resonance imaging (MRI) and a colposcopic biopsy were used to diagnose her with chronic vaginitis. An analysis of the vaginal wall biopsy showed signet ring cell carcinoma. Colorectal colonoscopy revealed advanced interstitial signet ring cell carcinoma as the primary source of vaginal wall infiltration. We review previous case reports of vaginal metastases from colorectal cancer and discuss the symptoms, pathological type, and outcomes.ConclusionsWe hypothesize that vaginal wall thickening and stiffness accompanied by chronic inflammatory-like changes may be clinical features of a vaginal metastasis of signet ring cell carcinoma of the intestine. We also emphasize that it is very important to perform a systemic tumor examination in a timely manner when a patient has the abovementioned symptoms.

Recurrent postmenopausal bleeding: a survey of practice among gynecologists in Scotland

The definition and management of recurrent postmenopausal bleeding (PMB) are not well described in the literature, with no consensus among the clinicians and no available contemporary UK evidence-based guidelines. We conducted this survey to examine the practice of gynecologists based in Scotland in relation to recurrent postmenopausal bleeding. A web-based questionnaire was sent to 200 non-training grade gynecologists in Scotland exploring their views on the definition, investigation and management of recurrent PMB. Data were extracted from the 61 responses received. Seventy-seven percent of responders defined recurrent PMB as two or more episodes of PMB, while 21% defined it after three episodes. A bleed-free interval of 3 and 6 months was needed to identify a recurrence by 46% and 44% of responders, respectively. 70% would investigate recurrent PMB with a combination of transvaginal sonography, hysteroscopy and biopsy. Only 19% would arrange a pelvic MRI routinely, while 43% would never offer one. 72% would consider a hysterectomy at some stage, with 22% of responders offering it after 3 episodes of PMB with negative investigation. 18% would never offer a hysterectomy without an identified pathology. 32% of responders felt that the management of recurrent PMB required an individualized case-by-case approach. This survey highlights the need for a clinical guideline to address the wide variation in the management of recurrent PMB.

Role of transvaginal ultrasound-guided biopsy in gynecology

BackgroundUltrasound-guided biopsy is an easy technique for obtaining tissue samples. It is commonly used for different types of tumors, such as breast and prostate cancers, in order to plan early...

Pseudo–Meigs syndrome caused by cancer of the uterine corpus

A 44-year-old woman was admitted to our hospital with a 1-month history of dyspnea, abdominal bloating, and genital bleeding. Computed tomography showed bilateral pleural effusions, ascites, and a huge pelvic tumor (Figure 1). Cytologic examination of both the pleural effusions and the ascites was negative for malignant cells, and histologic examination of a transvaginal biopsy of the endometrium revealed serous adenocarcinoma.

Primary Papillary Serous Carcinoma of the Fallopian Tube Presenting as a Vaginal Mass: A Case Report and Review of the Literature

Patient: Female, 41Final Diagnosis: Serous papillary carcinomaSymptoms: Vaginal discharge • weaknessMedication: —Clinical Procedure: Total abdominal hysterectomySpecialty: Obstetrics and GynecologyObjective:Unusual clinical courseBackground:There is now evidence to support that some cases of high-grade serous papillary carcinoma arise from the fallopian tubes rather than the ovaries. Common symptoms at presentation include abdominal pain and swelling, vomiting, altered bowel habit and urinary symptoms. To our knowledge, this is the first case of serous papillary carcinoma presenting as a vaginal mass lesion.Case Report:A 41-year-old woman was referred to the Bnai-Zion Medical Center with the main complaint of irregular vaginal bleeding, vaginal mucous discharge, and suspected pelvic mass. Physical examination showed a soft, painless mass, measuring about 10 cm in diameter located mainly in the recto-vaginal septum, but not involving the uterus. Ultrasound examination showed no abnormal ovarian or uterine findings. Transvaginal biopsies of the mass showed a poorly differentiated serous papillary carcinoma of ovarian, tubal, or peritoneal origin. The physical examination and imaging findings strongly indicated an inoperable tumor, and the patient was treated with neoadjuvant (pre-surgical) chemotherapy. Pre-operative computed tomography (CT) imaging showed the partial involvement of the colon, and so surgical treatment included total abdominal hysterectomy, bilateral salpingo-oophorectomy, omentectomy, partial vaginectomy, anterior rectal resection, and lymph node dissection. Histopathology of the surgical specimens showed a poorly differentiated serous carcinoma originating from the fimbria of the right fallopian tube.Conclusions:To the best of our knowledge, this is the first report to describe primary fallopian tube papillary serous carcinoma presenting as a vaginal mass. Therefore, physicians should be aware of this possible diagnosis.

Clinical Study of Postmenopausal Bleeding

Background: Women with postmenopausal bleeding (PMB) should be thoroughly evaluated. A thorough examination may help in the diagnosis of vulval, vaginal, cervical or pelvic pathology.Objective: This study was carried out to find the probable causes in patients presenting with postmenopausal bleeding.Materials and method: This observational study included 50 women with postmenopausal bleeding and was conducted in the department of Obstetrics and Gynaecology of Bangladesh Institute of Research and Rehabilitation in Diabetes, Endocrine and Metabolic Disorder (BIRDEM) Hospital, Dhaka, Bangladesh, from January 2004 to December 2004. Transvaginal ultrasonogram (TVS), diagnostic curettage and cervical biopsy were done and histopathology report was collected.Results: The mean age of the patients was 57.74 years (range 48-75 years), and the median age of menopause was 50 years. Among the patients 18 (36%) had only diabetes and 25 (50%) patients had both diabetes and hypertension. Nineteen patients (38%) were overweight, 5 patients (10%) were obese and 2 (4%) were morbidly obese. Per speculum examination revealed suspected cervical carcinoma in 5 cases (10%) and cervical polyp in 1 case (2%). The most common clinical finding was atrophy of the uterus and vagina in 26 patients (52%). TVS revealed endometrial thickness of 5mm or more in 17 cases (37.7%) and &lt; 5mm in 26 cases (57.7%). Nine patients (18%) had carcinoma, 16 patients (32%) had benign pathology and 19 (38%) patients had endometrial atrophy on histology.Conclusion: A detailed history taking, thorough physical examination and relevant investigations can lead to a correct detection of cause of postmenopausal bleeding. Those who have normal adnexae and thin endometrium (endometrium &lt;5mm) may not need endometrial biopsy.Delta Med Col J. Jul 2017 5(2): 83-88

Effect of cervical conization on pregnancy outcome of in-vitro fertilization/intracytoplasmic sperm injection treatment: a retrospective cohort study

Aims: To investigate the effect of cervical conization on the outcome of in-vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) treatment. Materials and Methods: The authors performed a retrospective, database-searched cohort study based on patients undergoing controlled ovarian hyperstimulation and IVF/ICSI between 2009 and 2013 in the present hospital. Cervical intraepithelial neoplasia (CIN) or cervical cancer was carefully confirmed by transvaginal ultrasound, hysteroscopy, and biopsy. High-quality case-control study with strict inclusion criteria was conducted. The authors analyzed basic characters and main IVF/ICSI outcomes between both groups. Results: The authors included 48 patients with a history of cervical conization who underwent IVF/ICSI and control group without cervical conization. No significant differences were found in IVF/ICSI outcomes between both groups. No obvious evidence was found indicating that cervical stenosis could impact IVF operation. Conclusions: The present results suggest that cervical conization does not affect IVF/ICSI outcomes. Patients can receive cervical conization before undertaking assisted reproductive technology.

Ultrasound-Guided Transvaginal Core Biopsy of Pelvic Masses: Feasibility, Safety, and Short-Term Follow-Up.

The purpose of this study was to evaluate the diagnostic accuracy and safety of ultrasound (US)-guided transvaginal core biopsy of pelvic masses. Fifty-five pelvic masses in 55 consecutive women who underwent US-guided transvaginal core biopsy were enrolled in our study. All lesions were detected on CT or MRI before biopsy. The procedure was performed with local anesthesia using a transvaginal US probe equipped with a guide and an 18-gauge needle with an automatic biopsy gun. We evaluated the diagnostic accuracy and complication rate of the procedure. All acquired specimens were adequate for the histopathologic analysis. The overall diagnostic accuracy of US-guided transvaginal core biopsy was 93% (51/55). Of the 55 lesions, 46 (84%) were confirmed to be either benign or malignant tumors, and five (9%) were diagnosed as active or chronic inflammatory lesions. Four lesions (7%) were not histopathologically diagnosed after biopsy: two were confirmed as fibrothecoma and leiomyosarcoma after surgery, and the remaining two were clinically determined to be recurrent cancer. In terms of minor complications, vaginal bleeding occurred in 10 patients (18%), and gross hematuria occurred in two patients (4%). These complications resolved spontaneously in all patients without further workup or treatment. US-guided transvaginal core biopsy seems to be safe and reliable procedure for the histopathologic diagnosis of pelvic masses.

Evaluation of diagnostic utility, safety considerations, and effect on fertility of transvaginal ultrasound-guided ovarian biopsy in mares

Ultrasound-guided biopsies of corpora lutea have been previously used for research purposes in the mare and cow. However, the health effects and fertility after transvaginal luteal biopsies (TVLB) or transvaginal ovarian biopsies (TVOB) obtained for diagnostic purposes in cases of suspected ovarian tumors have not been previously evaluated in the horse. The aim of this study was to determine the effects on health and fertility of TVLB and TVOB in mares; 53 mares were included in the study (11 control non-biopsied mares, 37 TVLB mares biopsied on one or more of the following Days 8, 10, 12, 15, 21, and 5 TVOB mares with ovarian abnormalities), resulting in a total of 108 TVLB and TVOB cycles and 183 procedures. Mares were divided into Groups 1 to 3 by the number of TVLB per estrous cycle (mare in Group 1 had 1 TVLB procedure, mares in Group 2 had 2 TVLB procedures, and mares in Group 3 had 3 TVLB procedures). Group 4 comprised TVOB mare cycles with ovarian abnormalities (n = 5). Mares were examined to determine day of ovulation (Day 0) and the presence of a corpora lutea using transrectal ultrasonography. Mares were sedated, and an ultrasound-guided transvaginal biopsy was performed of luteal or ovarian tissue. Health effects of TVLB or TVOB were assessed by daily rectal temperatures, appetite, and general demeanor for 72 hours post-procedure, and 3 mares were examined at necropsy. Fertility was not significantly different in control and TVLB Groups 1 to 3 (P = 0.7648) and in the first or subsequent cycles where the ovulation was from an ovary that had a previous TVLB (P = 0.7147). A TVLB on Day 8 post-ovulation may induce an early return to estrus. In conclusion, the TVLB or TVOB procedure had no effect on health and fertility in this study if the procedure was correctly performed with good technique. Because of the low number of cycles (n = 37), the fertility data should be interpreted with caution. The TVOB may be applied in the diagnosis of mares with ovarian abnormalities, and no adverse health effects were associated with TVOB of mares with granulosa theca cell tumor.

OC.08.1 NATURAL HISTORY OF LYNCH SYNDROME IN NORTHEASTERN ITALY

Background and aim: Lynch Syndrome (LS) is an inherited cancer predisposition bringing about 2-3% of all new cases of ColoRectal Cancer (CRC), caused by mutation in mismatch repair (MMR) genes. LS patients have a lifetime risk to develop a CRC up to 75% in men and 52% in women and an Endometrial Carcinoma (EC) up to 71%. The cancer spectrum involves other organs (ovary, stomach, urinary tract and small bowel), but with a lower risk. Material and methods: Families included in the study were registered in the “Registro Tumori Ereditari del colon-retto”, settled since 1992 at our Institution. Pathogenic mutations in MSH2, MLH1 and MSH6 were identified in 37 unrelated families. We tested 251 members of the families including the probands: 113 (45%) were gene carries (44M and 69F) and 138 were wild-type. 25 families displayed mutation in MSH2, 11 families in MLH1 and one in MSH6. Surveillance program included colonoscopy from age 22 with an interval of 1-2 years, abdominal ultrasound, urine cytology every two years and upper GI endoscopy every 4 years from age 35. For women, the gynecological work out included transvaginal ultrasonography and endometrial biopsy every two years from 30-35 years. Results: The first cancer diagnosed was CRC in almost all males. EC and CRC were equally diagnosed in women. The number of CRC increased abruptly until age 40 and decreased slowly with aging. Extra-colonic cancers (EXC) increased from age 50. 78 (69%) patients developed at least one cancer: 57 (50.4%) CRC and 32 female patients (46.4%) EC. Cancer of any type occurred in all patients over age 60. 66 (56.4%) had multiple primary cancers related to aging. A progressive increase of CRC and EXC was seen and patients with six EXC had a mean age of 74 years. The deaths registered were 11 (9.7%): 2 (1.7%) for pancreatic cancer and 9 (7.9%) for other diseases between 69 and 83 of age. Colonic surveillance lasted for an average period of 10.5 years (2-22 years). 5 patients (4.4%) out of 113 had CRC at stage T1 (2 pts), T2 (2 pts) and T2N1 (1 pt) and 38 (33.6%) patients had 121 advanced adenomas. Conclusions: Getting old, all LS patients displayed at least one cancer and more than 50% had multiple primary cancers. Colectomy with ileo-rectum anastomosis is the therapy of choice at first CRC diagnosed to avoid any further surgical procedures for that disease. Surveillance of organ targets should be included in long survivors from CRC.

拡散強調MR画像にて高信号を呈した膀胱炎症性病変の1例；組織学的所見との比較による考察

A 66-year-old woman was referred to our department for thickening bladder wall incidentally found during postoperative follow-up of transverse colon cancer. Cystoscopy showed edematous tumor with a diameter of 5 cm on the right wall. Deep portion of the tumor showed high intensity on diffusion-weighted magnetic resonance imaging (DW-MRI). Transurethral resection and transvaginal needle biopsy was performed, and pathological examination revealed granulation tissues mainly consisted of inflammatory cells and fibrosis. DW-MRI is a functional imaging constructed by quantifying the diffusion of water molecules. Recently, the feasibility of this imaging in the diagnosis of bladder cancer has been reported. However, we should keep in mind that granulation tissues consisted of inflammatory cells and fibrosis is also possible to be positive for DW-MRI.