Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.

Guideline No. 408: Management of Gestational Trophoblastic Diseases.

Objective: This guideline reviews the clinical evaluation and management of gestational trophoblastic diseases, including surgical and medical management of benign, premalignant, and malignant entities. The objective of this guideline is to assist health care providers in promptly diagnosing gestational trophoblastic diseases, to standardize treatment and follow-up, and to ensure early specialized care of patients with malignant or metastatic disease.

Intended Users: General gynaecologists, obstetricians, family physicians, midwives, emergency department physicians, anaesthesiologists, radiologists, pathologists, registered nurses, nurse practitioners, residents, gynaecologic oncologists, medical oncologists, radiation oncologists, surgeons, general practitioners in oncology, oncology nurses, pharmacists, physician assistants, and other health care providers who treat patients with gestational trophoblastic diseases.

Directive clinique n 408 : Prise en charge des maladies gestationnelles trophoblastiques.

Objectif: Cette directive passe en revue l'évaluation clinique et la prise en charge des maladies gestationnelles trophoblastiques, notamment les traitements chirurgicaux et médicamenteux des tumeurs bénignes, prémalignes et malignes. L'objectif de la présente directive clinique est d'aider les fournisseurs de soins de santé à rapidement diagnostiquer les maladies gestationnelles trophoblastiques, à normaliser les traitements et le suivi et à assurer des soins spécialisés précoces aux patientes dont l'atteinte est maligne ou métastatique. PROFESSIONNELS CONCERNéS: Gynécologues généralistes, obstétriciens, médecins de famille, sages-femmes, urgentologues, anesthésistes, radiologistes, anatomopathologistes, infirmières autorisées, infirmières praticiennes, résidents, gynécologues-oncologues, oncologues médicaux, radio-oncologues, chirurgiens, omnipraticiens en oncologie, infirmières en oncologie, pharmaciens, auxiliaires médicaux et autres professionnels de la santé qui traitent des patientes atteintes d'une maladie gestationnelle trophoblastique.

Pleomorphic Undifferentiated Uterine Sarcoma in a Young Patient Presenting With Elevated Beta-hCG and Rare Variants of Benign Leiomyoma: A Case Report and Review of the Literature.

Leiomyosarcoma (LMS) is a malignant mesenchymal neoplasm showing smooth muscle differentiation. Uterine LMS is more frequent that nonuterine LMS, and represents 1% of all malignant neoplasms of the uterus. Pleomorphic undifferentiated uterine sarcoma is a rare entity, and is defined by high-grade sarcoma histology with loss of muscular markers.

Green versus blue: Randomized controlled trial comparing indocyanine green with methylene blue for sentinel lymph node detection in endometrial cancer.

Objective: To ascertain the increase in detection rate of sentinel lymph node (SLN) associated with the use of indocyanine green (ICG) in comparison with methylene blue dye in women with endometrial cancer.

Methods: For this randomized controlled trial, all patients underwent SLN mapping after injection of blue dye on one side of the cervix and ICG on the other side. Randomization was for the side (right vs.

Distinct Histologic, Immunohistochemical and Clinical Features Associated With Serous Endometrial Intraepithelial Carcinoma Involving Polyps.

The origin of serous endometrial intraepithelial carcinoma (SEIC) is debated, due to its premalignant and independently malignant nature. It often arises next to endometrial serous carcinoma (ESC), with a propensity for polypoid growth. We aimed to better characterize this discrepancy by analyzing the clinical, histologic, and immunohistochemical features of polypoid carcinoma associated with SEIC (P-SEIC), and compared them with usual endometrial serous carcinoma without SEIC (UESC).

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

Androgenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes with all the chromosomes originating from a haploid sperm and no maternal chromosomes. Androgenetic complete hydatidiform moles were described in 1977, but how they occur has remained an open question.

Impact of Acetic Acid on HPV Testing Using Hybrid Capture 2.

Unlabelled: As per the American Society for Colposcopy and Cervical Pathology guidelines, human papillomavirus (HPV) testing is currently used as part of cervical cancer screening and during colposcopy follow-up. The present project evaluated if the application of acetic acid (AA) impacts HPV test results.

Methods: We conducted a prospective nonrandomized interventional study.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Hydatidiform mole is an aberrant human pregnancy characterized by early embryonic arrest and excessive trophoblastic proliferation. Recurrent hydatidiform moles are defined by the occurrence of at least two hydatidiform moles in the same patient. Fifty to eighty percent of patients with recurrent hydatidiform moles have biallelic pathogenic variants in NLRP7 or KHDC3L.

A specific immune and lymphatic profile characterizes the pre-metastatic state of the sentinel lymph node in patients with early cervical cancer.

The lymph node (LN) pre-metastatic niche is faintly characterized in lymphophilic human neoplasia, although LN metastasis is considered as the strongest prognostic marker of patient survival. Due to its specific dissemination through a complex bilateral pelvic lymphatic system, early cervical cancer is a relevant candidate for investigating the early nodal metastatic process. In the present study, we analyzed in-depth both the lymphatic vasculature and the immune climate of pre-metastatic sentinel LN (SLN), in 48 cases of FIGO stage IB1 cervical neoplasms.

Gestational Trophoblastic Disease: Opportunities for a National Registry Collaboration.

Objective: In rare entities such as gestational trophoblastic disease (GTD), only multi-institutional registries can gather significant number of patients to build up valuable clinical databases. No Canada-wide GTD registry currently exists. We conducted a survey among members of the Canadian Society of Gynecologic Oncology (GOC) to investigate their interest in a pan-Canadian GTD registry.

Adjuvant Chemotherapy and Vaginal Vault Brachytherapy With or Without Pelvic Radiotherapy for Stage 1 Papillary Serous or Clear Cell Endometrial Cancer.

Objective: The aim of this study was to assess and compare adjuvant chemotherapy followed by either high-dose-rate vaginal vault brachytherapy (VBT) alone or combined with pelvic external beam radiotherapy (EBRT) for International Federation of Gynaecology and Obstetrics stage 1 serous or clear cell (CC) endometrial cancer.

Methods: Between 2006 and 2012, 84 women with stage 1 serous or CC endometrial cancer were evaluated postoperatively for adjuvant treatment at our hospital. More than 80% of patients had pelvic lymphadenectomy.

Quebec Trophoblastic Disease Registry: how to make an easy-to-use dynamic database.

Objective: To create an easy-to-use dynamic database designed specifically for the Quebec Trophoblastic Disease Registry (RMTQ).

Introduction: It is now well established that much of the success in managing trophoblastic diseases comes from the development of national and regional reference centers. Computerized databases allow the optimal use of data stored in these centers.

Vulvar trichoblastoma: case report and literature review.

Objective: Trichoblastomas are rare and benign tumors that arise from rudimentary hair follicles. Presentation varies from superficial plaques to papular or nodular lesions. Trichoblastomas usually arise on the head or neck.

Improved computer-assisted analysis of the global lymphatic network in human cervical tissues.

Lymphatic dissemination is a key event in cervical cancer progression and related tumor lymphatic markers are viewed as promising prognostic factor of nodal extension. However, validating such parameters requires an objective characterization of the lymphatic vasculature. Here, we performed a global analysis of the lymphatic network using a new computerized method applied on whole uterine cervical digital images.

Cervical necrosis after chemoradiation for cervical cancer: case series and literature review.

Background: The aim of this study was to assess the management of cervical necrosis (CN) following radiotherapy (RT) and the impact of smoking status. This rare complication mimics a neoplastic recurrence, and causes concern among attending physicians.

Methods: Between July 2008 and March 2013, 5 women on 285 with localized cervical cancer had a CN following RT.

Extramammary Paget disease: epidemiology and association to cancer in a Quebec-based population.

Objective: This study aimed to further characterize the epidemiology, clinical manifestations, pathology, immunopathology, outcome from therapy, and associated underlying malignancy in extramammary Paget disease (EMPD).

Materials And Methods: We conducted a retrospective review of patients treated for EMPD in our tertiary care center during a 23-year period ranging from 1985 to 2008.

Results: Sixty-four cases of EMPD were diagnosed during this period.

Determinants of lymph node count in endometrial cancer surgical staging.

Objective: Lymphadenectomy is a fundamental procedure in gynecologic oncology, but there is an ongoing debate concerning its indication in endometrial cancer. Lymph node (LN) count has been used as a surrogate marker for quality of staging in endometrial cancer. Because of variability in reported LN counts in the literature and within our practice, we aimed to better understand the factors that influence the final LN count in endometrial cancer staging.

Human papillomavirus (HPV) DNA triage of women with atypical squamous cells of undetermined significance with cobas 4800 HPV and Hybrid Capture 2 tests for detection of high-grade lesions of the uterine cervix.

The triage of women with high-risk (HR) human papillomavirus (HPV)-positive smears for atypical squamous cells of undetermined significance (ASC-US) to colposcopy is now an integrated option in clinical guidelines. The performance of cobas 4800 HPV and that of Hybrid Capture 2 (HC2) for HR HPV DNA detection in cervical samples in PreservCyt were compared in 396 women referred to colposcopy for ASC-US. Of these, 316 did not have cervical intraepithelial neoplasia (CIN), 47 had CIN1, 29 had CIN2 or CIN3 (CIN2+), and 4 had CIN of unknown grade.

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.

Background: NLRP7 mutations are responsible for recurrent molar pregnancies and associated reproductive wastage. To investigate the role of NLRP7 in sporadic moles and other forms of reproductive wastage, the authors sequenced this gene in a cohort of 135 patients with at least one hydatidiform mole or three spontaneous abortions; 115 of these were new patients.

Methods/results: All mutations were reviewed and their number, nature and locations correlated with the reproductive outcomes of the patients and histopathology of their products of conception.