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Primary Cystic Ovarian Syndrome

Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Michiel Simons, Inge Ebisch, Joanne de Hullu, Maaike van Ham, Marc Snijders, Ineke de Kievit, Johan Bulten
A considerable number of mucinous ovarian tumors are metastatic from other primary tumors, mainly from the gastrointestinal tract, and primary mucinous ovarian tumors are considered rare. Mucinous ovarian tumors occurring within the clinical syndrome of pseudomyxoma peritonei are assumed to nearly always originate from the appendix. We describe a patient with a low-grade mucinous tumor involving the ovary in coexistence with pseudomyxoma peritonei, who underwent appendectomy 25 yr earlier. The tumor originated from a rare cystic gastrointestinal duplication found in the mesenteric fat showing adenomatous changes...
July 11, 2017: International Journal of Gynecological Pathology
Zenghui Mao, Liqing Fan, Qiao Yu, Shuwei Luo, Xianling Wu, Jun Tang, Gehua Kang, Le Tang
This study investigated the involvement of the klotho-associated signaling in the apoptosis of granulosa cells (GCs) from the ovaries of patients with polycystic ovary syndrome (PCOS) and PCOS animals. Primary GCs were obtained from 26 healthy women and 43 women with PCOS. The PCOS animal model was established by the injection of dehydroepiandrosterone (DHEA). Klotho protein and associated microRNA expression in human primary GCs and rats' ovarian tissues were measured by Western blot and real-time polymerase chain reaction, respectively...
March 2018: Reproductive Sciences
Yumiko Oishi Tanaka, Satoshi Okada, Toyomi Satoh, Koji Matsumoto, Akinori Oki, Tsukasa Saida, Hiroyuki Yoshikawa, Manabu Minami
BACKGROUND: Primary epithelial ovarian carcinoma is sub-classified into serous, mucinous, endometrioid and clear cell subtypes. Neoadjuvant chemotherapy has become an alternative treatment option past several years, as serous carcinoma, the most common subtype, is known as chemotherapy-sensitive tumor. On the other hand, mucinous and clear cell carcinoma are known as chemotherapy-resistive. Therefore, it may be meaningful to estimate subtype of ovarian carcinoma using imaging modality...
February 12, 2016: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
Mina Zaree, Vahideh Shahnazi, Shabnam Fayezi, Maryam Darabi, Mahzad Mehrzad-Sadaghiani, Masoud Darabi, Sajjad Khani, Mohammad Nouri
BACKGROUND: The omega-3 fatty acid (ω-3 fatty acid) such as eicosapentaenoic acid (EPA) is currently used in the clinic as a nutritional supplement in the treatment of poly- cystic ovarian syndrome (PCOS). The present study was designed to investigate the ef- fect of EPA on the expression levels of peroxisome proliferator-activated receptor gamma (PPARγ) and cytochrome P450 aromatase (encoded by the CYP-19) in primary cultured granulosa cells (GC) from patients undergoing in vitro fertilization (IVF), and also to compare these effects with those in GC of PCOS patients...
July 2015: International Journal of Fertility & Sterility
Yongjun Yin, Angela M Castro, Marrit Hoekstra, Thomas J Yan, Ajay C Kanakamedala, Louis P Dehner, D Ashley Hill, David M Ornitz
Pleuropulmonary Blastoma (PPB) is the primary neoplastic manifestation of a pediatric cancer predisposition syndrome that is associated with several diseases including cystic nephroma, Wilms tumor, neuroblastoma, rhabdomyosarcoma, medulloblastoma, and ovarian Sertoli-Leydig cell tumor. The primary pathology of PPB, epithelial cysts with stromal hyperplasia and risk for progression to a complex primitive sarcoma, is associated with familial heterozygosity and lesion-associated epithelial loss-of-heterozygosity of DICER1...
May 2015: PLoS Genetics
Leanne de Kock, Harriet Druker, Evan Weber, Nancy Hamel, Jeffrey Traubici, David Malkin, Jocelyne Arseneau, Colin J R Stewart, Dorothée Bouron-Dal Soglio, John R Priest, William D Foulkes
Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations...
June 2015: Human Pathology
Luisina Ongaro, Natalia R Salvetti, Andrés Giovambattista, Eduardo Spinedi, Hugo H Ortega
AIM: Androgen excess predisposes the organism to develop metabolic-endocrine and reproductive dysfunctions, among them the development of a phenotype resembling that of human Polycystic Ovary Syndrome (PCOS). METHODS: We analyzed the impact of a single neonatal (5day-old) testosterone propionate (TP; s.c. 1.25mg/female pup) dose on: a) several metabolic-endocrine activities and b) ovarian steroidogenic and granulosa cell (GC) functions and also follicular population in juvenile and adult TP and control (CT) rats...
June 1, 2015: Life Sciences
Hui Chen, Jing Hui Guo, Xiao Hu Zhang, Hsiao Chang Chan
Polycystic ovarian syndrome (PCOS) is one of the most frequent causes of female infertility, featured by abnormal hormone profile, chronic oligo/anovulation, and presence of multiple cystic follicles in the ovary. However, the mechanism underlying the abnormal folliculogenesis remains obscure. We have previously demonstrated that CFTR, a cAMP-dependent Cl(-) and HCO3 (-) conducting anion channel, is expressed in the granulosa cells and its expression is downregulated in PCOS rat models and human patients. In this study, we aimed to investigate the possible involvement of downregulation of CFTR in the impaired follicle development in PCOS using two rat PCOS models and primary culture of granulosa cells...
May 2015: Reproduction: the Official Journal of the Society for the Study of Fertility
Mahmood Zamirian, Ali Reza Moaref, Seyed Hosein Alavi, Khalil Zarrabi
A 22 years old lady was admitted because of progressive dyspnea, severe abdominal protrusion and lower extremity edema. She had undergone ovarian hyperstimulation for primary infertility by Clomiphen and Human chorionic gonadotropin for 3 months. Abdominopelvic ultrasonography revealed bilateral enlarged multi cystic ovaries and massive ascites. Transesophageal echocardiography revealed a large thrombus in right ventrice apex. Spiral chest CT scan showed normal pulmonary vasculature with no evidence of pulmonary thromboembolism...
December 2012: International Cardiovascular Research Journal
Na Yeon Han, Deuk Jae Sung, Beom Jin Park, Min Ju Kim, Sung Bum Cho, Kyeong Ah Kim, Jae Yun Song
OBJECTIVE: To access imaging findings of growing teratoma syndrome (GTS), which is a rare complication of malignant ovarian germ cell tumor (GCT) after chemotherapy. METHODS: Five patients met the criteria for GTS. Computed tomography and magnetic resonance images were retrospectively reviewed by 2 radiologists in consensus for margin, attenuation, and the presence of gross fat or calcification of GTS lesions, which were compared with primary GCTs regarding tumor composition...
July 2014: Journal of Computer Assisted Tomography
K S Shivaprasad, Deep Dutta, Rajesh Jain, Manoj Kumar, Indira Maisnam, Dibakar Biswas, Sujoy Ghosh, Satinath Mukhopadhyay, Subhankar Chowdhury
Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS)) is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm) and a multicystic left ovary (55 × 45 × 49 mm) were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7...
October 2013: Indian Journal of Endocrinology and Metabolism
Marco Pizzi, Gianmaria Pennelli, Isabella Merante-Boschin, Matteo Fassan, Maria Rosa Pelizzo, Massimo Rugge
INTRODUCTION: Mucinous cystic neoplasms (MCN) are uncommon tumors of the pancreatic corpus/tail occurring mostly in middle-aged women, with a variable clinico-biological behavior. On histology, MCNs concurrently show an epithelial mucosecreting component with ovarian-type stromal cells. PRESENTATION OF CASE: This report describes the first case of a pancreatic MCN with no ovarian-type stroma in a patient with Turner syndrome (TS). DISCUSSION: The mesenchymal component of MCN presumably results from the intra-pancreatic entrapment of ovarian stroma during embryogenesis...
2013: International Journal of Surgery Case Reports
Tanja Lenicek, Davor Tomas, Hrvojka Soljacić-Vranes, Zdenko Kraljević, Petar Klarić, Milan Kos, Marina Kos
Primary carcinoid tumors of the ovary account for 5% of ovarian teratomas. They are frequently components of mature cystic teratomas or, less commonly, mucinous cystadenomas. Most tumors are seen in peri- or postmenopausal women with symptoms of enlarging mass, or are incidental findings. Microscopically, there are four major variants of ovarian teratomas of carcinoid type: insular, trabecular, strumal and mucinous. One-third of patients with the insular type of carcinoids have symptoms of the carcinoid syndrome...
December 2012: Acta Clinica Croatica
Sifrance Tran, Ellen E Kim, Anthony C Chin
A 10 year old female presented with a 3 week history of persistent vaginal bleeding, lower abdominal pain, and generalized fatigue. Further work-up determined that she had severe autoimmune hypothyroidism, precocious puberty, and a large left cystic ovarian mass, consistent with Van Wyk and Grumbach syndrome. In addition, the patient had elevated inhibin A and B levels, which may be elevated in granulosa cell tumor. The patient was managed with thyroid hormone replacement therapy and careful observation. Complete resolution of the ovarian mass and interval normalization of the inhibin levels were achieved...
January 2013: Journal of Pediatric Surgery
Philip Yen, Kathleen Khong, Ramit Lamba, Michael T Corwin, Eugenio O Gerscovich
OBJECTIVES: To evaluate imaging characteristics of ovarian fibromas and fibrothecomas and to identify select clinical markers and imaging features to help in their diagnosis. METHODS: Over a 5-year period, 18 of 29 women with histologically proven fibromas or fibrothecomas underwent sonography, computed tomography (CT), or magnetic resonance imaging (MRI). On review of the images, tumor size, solid component characteristics, and cystic components were evaluated...
January 2013: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Fred M Howard
In this review, the pitfalls that still exist with the surgical treatment of endometriosisassociatedpelvic pain have been discussed and the best evidence regarding various aspects of surgical techniques have been reviewed. When laparoscopy is performed to evaluate a woman with pelvic pain symptoms, it is important she be counseled that the primary function of the surgery is to confirm the presence (and allow surgical treatment) of endometriosis, and that it is not the penultimate diagnostic modality for her pelvic pain...
December 2011: Obstetrics and Gynecology Clinics of North America
K Matsunami, H Takagi, S Ichigo, T Murase, T Ikeda, A Imai
BACKGROUND: Primary ovarian carcinoid tumor is uncommon and represents less than 0.1% of ovarian malignancies. The strumal carcinoid may be complicated by carcinoid syndrome induced by peptide YY (PYY). CASE REPORT: We describe a 45-year-old woman with a bilateral ovarian tumor diagnosed through periodical gynecological examination. She presented with severe constipation. Right ovarian cyst laparoscopically resected was diagnosed as a strumal carcinoid tumor; the left one was mature cystic teratoma...
2011: European Journal of Gynaecological Oncology
Laura L Nelsen, DesiRae M Muirhead, Maria C Bell
A gravida 2, para 2 25-year-old woman three months post-partum presented to her primary physician with abdominal pain and bloating; a 20-cm complex cystic pelvic mass was identified by ultrasound. No ovarian masses were noted during ultrasound exam at the prior pregnancy, less than one year earlier. Her labs included hypercalcemia (11.8 mg/dL, normal less than 10.5) and an elevated CA 125 (160 U/mL, normal less than 35). An exploratory laparotomy revealed a 20-cm right ovarian mass. Frozen section was performed and a sex cord-stromal tumor was favored...
November 2010: South Dakota Medicine: the Journal of the South Dakota State Medical Association
Feras M Hantash, Dana M Goos, Beryl Crossley, Ben Anderson, Ke Zhang, Weimin Sun, Charles M Strom
PURPOSE: Fragile X syndrome is caused by expansion and methylation of a CGG tract in the 5' untranslated region of the FMR1 gene. The estimated frequency of expanded alleles (≥55 repeats) in the United States is 1:257-1:382, but these estimates were not calculated from unbiased populations. We sought to determine the frequency of fragile X syndrome premutation (55-200 repeats) and full mutation (>200 repeats) alleles in nonselected, unbiased populations undergoing routine carrier screening for other diseases...
January 2011: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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