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endometrial carcinoma screening

Dimitrios Kaldrymidis, Georgios Papadakis, Georgios Tsakonas, Philippos Kaldrymidis, Theofanis Flaskas, Andreas Seretis, Eleni Pantazi, Ifigenia Kostoglou-Athanassiou, Melpomeni Peppa, Paraskevi Roussou, Evanthia Diamanti-Kandarakis
PURPOSE: Several studies have suggested that patients with acromegaly have an increased risk of thyroid, colorectal, breast and prostate cancers. In this study we determined the prevalence of malignant neoplasms in patients with acromegaly. METHODS: Cancer risk was evaluated in a cohort of 110 patients (M/F 48/62, age 58.63±13.8 years, range 30-86) with acromegaly. Mean age at diagnosis of acromegaly was 46.37±13.11 years. Mean period of time since diagnosis of acromegaly was 12...
July 2016: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
J Y Zhou, L Zhang, L H Wei, J L Wang
UNLABELLED: Genetic factors affect the initiation and progression of endometrial carcinoma (EC). The routine detection of genetic factors involved in EC has not been extensively performed in Chinese clinical practice, however. In this review we summarise EC-related genetic factors, including Lynch syndrome-associated mutations and non-Lynch syndrome-associated genetic predispositions found in Chinese women, and their potential clinical applications. In addition, we propose a clinical testing strategy for patients with EC and their family members...
September 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Mackenzie Coatham, Xiaodong Li, Anthony N Karnezis, Lien N Hoang, Basile Tessier-Cloutier, Bo Meng, Robert A Soslow, C Blake Gilks, David G Huntsman, Colin J R Stewart, Lynne M Postovit, Martin Köbel, Cheng-Han Lee
Dedifferentiated carcinoma of the endometrium or the ovary is an aggressive epithelial malignancy that comprises an endometrioid carcinoma together with an undifferentiated carcinoma. We recently reported that inactivation of BRG1 or INI1, core subunits of the switch/sucrose non-fermenting (SWI/SNF) complex, was the likely molecular event underlying dedifferentiation in about half of dedifferentiated carcinomas. In this study, we performed a genomic screen that included other members of the SWI/SNF complex to better delineate the molecular basis in the remainder of these tumours...
August 26, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Jaclyn C Watkins, Eric J Yang, Michael G Muto, Colleen M Feltmate, Ross S Berkowitz, Neil S Horowitz, Sapna Syngal, Matthew B Yurgelun, Anu Chittenden, Jason L Hornick, Christopher P Crum, Lynette M Sholl, Brooke E Howitt
Although consensus has yet to be reached on universal mismatch-repair (MMR) protein immunohistochemical (IHC) screening for Lynch syndrome (LS) in endometrial cancer (EC), an increasing number of institutions have adopted universal screening protocols similar to those used for colorectal carcinoma. Here we describe our institution's experience with a prospective universal screening protocol in which all ECs resected over a period of 19 months (n=242) were screened for MLH1, PMS2, MSH2, and MSH6 deficiencies using IHC, followed by MLH1 promoter methylation testing when appropriate...
August 23, 2016: International Journal of Gynecological Pathology
Jiang Du, Yaling Li, Shulan Lv, Qing Wang, Chao Sun, Xin Dong, Ming He, Qurat Ulain, Yongxing Yuan, Xiaoqian Tuo, Nasra Batchu, Qing Song, Qiling Li
PURPOSE: Endometrial carcinoma is the most common gynecologic malignancy in both developed and some developing countries. Unlike cervical cancer, for which there is routine screening, only patients symptomatic for endometrial carcinoma typically seek medical help for its diagnosis and treatment. Dilatation and curettage (D&C) has been the standard procedure for evaluating suspicious endometrial lesions. The discomfort and injury caused by the D&C procedure, however, restrict its use as a screening method for early diagnosis of endometrial lesions...
August 11, 2016: Journal of Cancer Research and Clinical Oncology
Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-Alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander Sinanan
BACKGROUND: Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this syndrome...
2016: BMC Research Notes
Kari L Ring, Amanda S Bruegl, Brian A Allen, Eric P Elkin, Nanda Singh, Anne-Renee Hartman, Molly S Daniels, Russell R Broaddus
Hereditary endometrial carcinoma is associated with germline mutations in Lynch syndrome genes. The role of other cancer predisposition genes is unclear. We aimed to determine the prevalence of cancer predisposition gene mutations in an unselected endometrial carcinoma patient cohort. Mutations in 25 genes were identified using a next-generation sequencing-based panel applied in 381 endometrial carcinoma patients who had undergone tumor testing to screen for Lynch syndrome. Thirty-five patients (9.2%) had a deleterious mutation: 22 (5...
July 22, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Elion Hoxha, Laurence H Beck, Thorsten Wiech, Nicola M Tomas, Christian Probst, Swantje Mindorf, Catherine Meyer-Schwesinger, Gunther Zahner, Phillip R Stahl, Ruth Schöpper, Ulf Panzer, Sigrid Harendza, Udo Helmchen, David J Salant, Rolf A K Stahl
Thrombospondin type 1 domain-containing 7A (THSD7A) is a target antigen identified in adult membranous nephropathy (MN) along with the major antigen phospholipase A2 receptor 1 (PLA2R1). The prevalence of THSD7A-Ab-positive patients is unknown, and it is unclear whether the clinical presentation differs between patients positive for PLA2R1-Ab or THSD7A-Ab. We screened serum samples of 1276 patients with MN from three different cohorts for the presence of THSD7A-Ab by Western blot analysis and a newly developed indirect immunofluorescence test (IFT)...
July 19, 2016: Journal of the American Society of Nephrology: JASN
H Yoshida, D Shintani, Y Imai, K Fujiwara
Serous tubal intraepithelial carcinoma (STIC) is considered the precursor of pelvic serous carcinomas and the earliest malignant alteration in BRCA mutation-positive women. Recently, risk-reducing salpingo-oophorectomy (RRSO) is being performed in BRCA mutation-positive women and STIC is often discovered incidentally in the fallopian tubes. A 62-year-old woman underwent bilateral salpingo-oophorectomy (BSO) for ovarian cysts. Ten months later, cytological screening for the endometrium revealed adenocarcinoma...
2016: European Journal of Gynaecological Oncology
Hui Zhang, Jia Wen, Pi-Li Xu, Rui Chen, Xi Yang, Lian-Er Zhou, Ping Jiang, An-Xia Wan, Qin-Ping Liao
BACKGROUND: Liquid-based cytology (LBC) offers an alternative method to biopsy in screening endometrial cancer. Cell block (CB), prepared by collecting residual cytological specimen, represents a novel method to supplement the diagnosis of endometrial cytology. This study aimed to compare the specimen adequacy and diagnostic accuracy of LBC and CB in the diagnosis of endometrial lesions. METHODS: A total of 198 women with high risks of endometrial carcinoma (EC) from May 2014 to April 2015 were enrolled in this study...
June 20, 2016: Chinese Medical Journal
Patricia A Shaw, Blaise A Clarke
Hereditary breast ovarian cancer and Lynch/hereditary nonpolyposis colorectal cancer syndrome account for most hereditary gynecologic cancers. In the absence of effective cancer screening and other preventative strategies, risk-reducing surgery in women who are known to be at genetic risk of BRCA-associated or of Lynch syndrome carcinomas is effective in significantly decreasing the lifetime risk of developing malignancy. Reflex genomic testing of high-grade ovarian cancers and reflex immunohistochemistry in endometrial cancers will lead to greater recognition of germline-associated cancers...
June 2016: Surgical Pathology Clinics
Bojana Djordjevic, Russell R Broaddus
This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. Discrepancies between laboratory and genetic testing may arise, and are examined in the context of the complexity of molecular abnormalities associated with Lynch Syndrome. The merits of targeted versus universal screening in a changing healthcare climate are addressed...
June 2016: Surgical Pathology Clinics
Jaclyn C Watkins, Marisa R Nucci, Lauren L Ritterhouse, Brooke E Howitt, Lynette M Sholl
Universal screening for Lynch syndrome through mismatch repair (MMR) immunohistochemistry (IHC) on tumor samples has brought to light several heterogenous MMR staining patterns. At our institution, a prospective study of universal Lynch syndrome screening using MMR IHC on 125 endometrial cancers (EC) led to the identification of subclonal loss of MMR protein expression within the tumor (n=9). We also interrogated the MMR staining patterns in MMR-deficient EC with concurrent endometrial intraepithelial neoplasia (EIN; n=14) and all mixed-type ECs (n=14) to look for concordant or discordant profiles between the various components...
July 2016: American Journal of Surgical Pathology
Benjamin G Challis, Narayanan Kandasamy, Andrew S Powlson, Olympia Koulouri, Anand Kumar Annamalai, Lisa Happerfield, Alison J Marker, Mark J Arends, Serena Nik-Zainal, Mark Gurnell
CONTEXT: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a poor prognosis. Although the majority of childhood ACC arises in the context of inherited cancer susceptibility syndromes, it remains less clear whether a hereditary tumor predisposition exists for the development of ACC in adults. Here, we report the first occurrence of familial ACC in a kindred with Lynch syndrome resulting from a pathogenic germline MSH2 mutation. CASE: A 54-year-old female with a history of ovarian and colorectal malignancy was found to have an ACC...
June 2016: Journal of Clinical Endocrinology and Metabolism
Dinesh Pradhan, Zaibo Li, Rebecca Ocque, Stell Patadji, Chengquan Zhao
BACKGROUND: The interpretation of atypical glandular cells (AGC) in Papanicolaou (Pap) tests and screening for glandular neoplasia remain challenging. METHODS: Pap tests with an AGC interpretation from January 2008 to December 2013 were retrieved from a pathology database, and cases with histologic follow-up within 1 year were included in the study. RESULTS: There were 589,830 Pap tests during the study period, and 3709 cases (0.6%) were reported as AGC, which included the following: AGC, not otherwise specified (52...
August 2016: Cancer Cytopathology
Nianchun Shan, Wei Zhou, Shufen Zhang, Yu Zhang
Although there are advances in diagnostic, predictive, and therapeutic strategies, discovering protein biomarker for early detection is required for improving the survival rate of the patients with endometrial carcinoma. In this study, we identify proteins that are differentially expressed between the Stage I endometrial carcinoma and the normal pericarcinous tissues by using isobaric tags for relative and absolute quantitation (iTRAQ)-based proteomic analysis. Totally, we screened 1,266 proteins. Among them, 103 proteins were significantly overexpressed, and 30 were significantly downexpressed in endometrial carcinoma...
2016: OncoTargets and Therapy
Huizhen Sun, Li Yan, Ruiqin Tu, Yuqin Zhang, Li Ma, Wenbin Tang, Long Li, Wei Chen, Cheng Zhan, Rongyu Zang
BACKGROUND: This study was to explore the expression profile of endometrial carcinoma (EC) and identify the potential molecular mechanism and therapeutic targets. METHODS: Differentially expressed genes (DEGs) and differentially expressed miRNAs (DEMs) were identified in EC using mRNA and miRNA sequencing data released by the Cancer Genome Atlas database; then, gene function and pathway of DEGs were analyzed based on the Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway databases; finally, the transcription factors (TFs) latently regulating the DEGs and DEMs were predicted and a TF-miRNA-Gene network was then established to summarize the regulatory links between TFs, DEMs and DEGs...
March 18, 2016: Gynecologic and Obstetric Investigation
Cenk Yasa, Ozlem Dural, Ercan Bastu, Funda Gungor Ugurlucan, Aslı Nehir, Ahmet Cem İyibozkurt
PURPOSE: To assess the diagnostic accuracy of endometrial thickness measurements of transvaginal ultrasound (TVUS) in asymptomatic postmenopausal women in the detection of endometrial malignancy. METHODS: A retrospective cohort study in a university hospital was undertaken with 276 consecutive asymptomatic postmenopausal women undergoing dilatation and curettage (D&C) and hysteroscopy for an incidental finding of thickened endometrium (≥4 mm) between 2003 and 2012...
August 2016: Archives of Gynecology and Obstetrics
Vaneesha Vallabh-Patel, Cristina Saiz, Charbel Salamon, Amanda Francis, Jennifer Pagnillo, Patrick Culligan
OBJECTIVE: This study aimed to determine the prevalence of occult malignancy found in morcellated specimens removed in the context of pelvic organ prolapse repair operations. METHODS: A total of 786 cases were reviewed from a single health system between October 2006 and July 2015. Thorough chart reviews were performed to include pathological specimens. Demographic, perioperative, and postoperative data were collected. RESULTS: Four occult malignancies were identified including 3 endometrial adenocarcinomas of the uterus and 1 papillary serous carcinoma of the uterus...
July 2016: Female Pelvic Medicine & Reconstructive Surgery
Valerio G Vellone, Michele Paudice, Liliana Varesco
Early diagnosis and proper management of gynecologic malignancies represent a challenge in modern oncology. A growing interest has arisen around the gynecological manifestations of hereditary cancer syndromes. In particular, the discovery of the BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes (MMR) in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. The clinical, genetic and pathological features of hereditary cancer syndromes with gynecological manifestations are reviewed focusing on Lynch Syndrome, also known as hereditary nonpolyposis colorectal carcinoma (HNPCC), Peutz-Jeghers Syndrome (PJS), Cowden Syndrome or multiple hamartoma syndrome, Gorlin Syndrome or nevoid basal-cell carcinoma syndrome (NBCCS) and Reed's Syndrome or hereditary leiomyomatosis and renal cell cancer (HLRCC)...
October 2016: Minerva Ginecologica
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