P–553 Women with molar pregnancies have a genetic susceptibility to aneuploid miscarriages

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
R Slim ◽  
Y Khawajkie ◽  
L Hoffner ◽  
L Tan ◽  
B Ab. Rafea ◽  
...  
Keyword(s):  
Hydatidiform Mole ◽  
P Value ◽  
Blood Draw ◽  
Recurrent Miscarriages ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Registration Number ◽  
Female Germline ◽  
First Time

Abstract Study question What causes non-molar miscarriages in women with one hydatidiform mole (HM)? Summary answer We found a higher rate of aneuploidies in the non-molar miscarriages of women with HM than in those from women with sporadic or recurrent miscarriages. What is known already Women with hydatidiform moles have higher rates of miscarriages and women with recurrent miscarriages have higher rates of moles than women from the general population. Study design, size, duration We retrieved archived formalin-fixed paraffin embedded tissues from non-molar miscarriages of patients with one HM and analyzed them for the presence of aneuploidies using single nucleotide polymorphism (SNP)-microarray. We next determined the meiotic origin of the aneuploidies by genotyping the aneuploid non-molar miscarriages along with the parental genomes using microsatellite markers. Participants/materials, setting, methods All participants and some of their partners provided written consent to participate in our study, agreed to a blood draw for genotyping analysis, and agreed for us to retrieve their molar and non-molar tissues from various histopathology laboratories for research purposes. Main results and the role of chance We demonstrate for the first time that patients with an HM and miscarriages are at higher risk for aneuploid miscarriages [83.3%, 95% confidence interval (CI): 0.653–0.944] than women with sporadic (51.5%, 95% CI: 50.3–52.7%, p value = 0.0003828) or recurrent miscarriages (43.8%, 95% CI: 40.7–47.0%, p value = 0.00002). Genotyping the aneuploid miscarriages and the parental genomes demonstrated that most of the aneuploidies originated from errors in maternal meiosis I or II. Limitations, reasons for caution We were able to retrieve only 30 non-molar miscarriages from women with one HM for analysis. Expanding such analysis to a larger and independent cohort of miscarriages from such patients will be important to validate our observations. Wider implications of the findings: Our data suggest common genetic female germline defects predisposing to HM and aneuploid non-molar miscarriages in some patients. Trial registration number Not applicable

scholarly journals Higher EU-TIRADS-Score Correlated with BRAF V600E Positivity in the Early Stage of Papillary Thyroid Carcinoma

2021 ◽  
Vol 10 (11) ◽  
pp. 2304
Author(s):  
Karolina Skubisz ◽  
Joanna Januszkiewicz-Caulier ◽  
Patrycja Cybula ◽  
Elwira Bakuła-Zalewska ◽  
Krzysztof Goryca ◽  
...  
Keyword(s):  
Early Stage ◽  
Braf V600e ◽  
P Value ◽  
Dna And Rna ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Ion Proton ◽  
Indolent Disease ◽  
Next Generation Sequencing Ngs ◽  
Formalin Fixed

The data demonstrating a correlation between sonographic markers of malignancy of thyroid cancer (TC) and its genetic status are scarce. This study aimed to assess whether the addition of genetic analysis at the preoperative step of TC patients’ stratification could aid their clinical management. The material consisted of formalin-fixed paraffin-embedded tumor fragments of 49 patients who underwent thyroidectomy during the early stages of papillary TC (PTC). Tumor DNA and RNA were subjected to next-generation sequencing (NGS) on Ion Proton using the Oncomine™ Comprehensive Assay panel. We observed a significant correlation between BRAF V600E and a higher EU-TIRADS score (p-value = 0.02) with a correlation between hypoechogenicity and taller-than-wide tumor shape in analysed patients. There were no other significant associations between the identified genetic variants and other clinicopathological features. For TC patient’s stratification, a strong suspicion of BRAF V600E negativity in preoperative management of TC patients could limit the over-treatment of asymptomatic, very low-risk, indolent disease and leave room for active surveillance.

scholarly journals IMMUNOHISTOCHEMICAL LOCALIZATION OF HUMAN CHORIONIC GONADOTROPIN

1962 ◽  
Vol 115 (2) ◽  
pp. 289-294 ◽  
Author(s):  
A. R. Midgley ◽  
G. B. Pierce
Keyword(s):  
Chorionic Gonadotropin ◽  
Human Chorionic Gonadotropin ◽  
Hydatidiform Mole ◽  
Immunohistochemical Localization ◽  
Formalin Fixation ◽  
Cell Of Origin ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Immunohistochemical Techniques ◽  
Formalin Fixed

Through the use of immunohistochemical techniques, human chorionic gonadotropin has been localized to syncytiotrophoblastic cells of immature placenta, hydatidiform mole, chorioadenoma destruens, and choriocarcinoma. No gonadotropin has been detected in cytotrophoblast. Evidence is discussed which suggests that syncytiotrophoblast is the cell of origin of human chorionic gonadotropin. The observation that formalin fixation did not alter the ability of human chorionic gonadotropin to react with its specific antibody permitted the study of formalin-fixed paraffin-embedded tissues stored in the tissue collection. In addition, the excellence of histologic preparations following formalin fixation facilitated cytologic identification.

Osteopontin Expression According to Molecular Profile of Invasive Breast Cancer: A Clinicopathological and Immunohistochemical Study

2008 ◽  
Vol 23 (3) ◽  
pp. 154-160 ◽  
Author(s):  
A. Ribeiro-Silva ◽  
J.P. Oliveira da Costa ◽  
S. Britto Garcia
Keyword(s):  
Breast Cancer ◽  
Calcium Binding ◽  
Molecular Profile ◽  
Breast Carcinomas ◽  
Formalin Fixed Paraffin ◽  
Mineralized Tissues ◽  
Formalin Fixed Paraffin Embedded ◽  
Invasive Breast Carcinomas ◽  
Formalin Fixed

Osteopontin (OPN) is a secreted, calcium-binding phosphorylated glycoprotein involved in several physiological and pathological events such as angiogenesis, apoptosis, inflammation, wound healing, vascular remodeling, calcification of mineralized tissues, and induction of cell proteases. There is growing interest in the role of OPN in breast cancer. In an attempt to obtain new insight into the pathogenesis of OPN-associated breast carcinomas, an immunohistochemical panel with 17 primary antibodies including cytokeratins and key regulators of the cell cycle was performed in 100 formalin-fixed paraffin-embedded samples of invasive breast carcinomas. OPN was expressed in 65% of tumors and was negatively correlated with estrogen (p=0.0350) and progesterone (p=0.0069) receptors, but not with the other markers and clinicopathological features evaluated including age, menstrual status, pathological grading, tumor size, and metastasis. There was no correlation between OPN expression and carcinomas of the basal-like phenotype (p=0.1615); however, OPN correlated positively with c-erbB-2 status (p=0.0286) and negatively with carcinomas of the luminal subtype (p=0.0353). It is well known that carcinomas overexpressing c-erbB-2 protein have a worse prognosis than luminal tumors. Here, we hypothesize that the differential expression of OPN in the first subtype of carcinomas may contribute to their more aggressive behavior.

Low grade glioma patients with IDH mutation and 1p19q codeletion: To treat or not to treat?

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 2017-2017 ◽  
Author(s):  
Enrico Franceschi ◽  
Dario De Biase ◽  
Alexandro Paccapelo ◽  
Antonella Mura ◽  
Alicia Tosoni ◽  
...  
Keyword(s):  
Extent Of Resection ◽  
Low Grade ◽  
Incomplete Resection ◽  
Idh Mutation ◽  
1P19q Codeletion ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Surgical Treatments

2017 Background: Molecular characterization of low grade gliomas (LGG) is essential for diagnosis and treatment of these diseases. LGG patients (pts) with IDH mutation and 1p19q codeletion (codel) are characterized by a median OS (mOS) longer than 10 years. Thus, the role of treatments and side effects should be carefully evaluated. Methods: We evaluated LGG pts from our data warehouse (n=679 pts) who received surgery and had sufficient tissue to assess biomarkers characterization. Pts with gliomatosis were excluded. IDH1/2 assessment was performed on formalin-fixed paraffin-embedded samples by qPCR. In wild type cases we performed NGS. 1p/19 codel analysis was performed by FISH. Results: 93 consecutive LGG with IDH mutation and codel were included. The median follow up (FU) was 96.1 months. Mean age was 40 yrs (range: 25-66); 8 pts (8.6%) underwent biopsy, 61 pts (65.6%) partial resection, 24 pts (25.8%) complete resection. 84 pts (90.3%) were considered high risk using RTOG criteria (>40 years and/or incomplete resection). Fifty pts (53.7%) received only FU, 17 pts (18.3%) received chemotherapy (CT), 18 pts (19.4%) received radiotherapy (RT), 8 pts (8.6%) received RT + CT. Median PFS (mPFS) was 59.6 months (95%CI: 41.8-77.4) and was significantly longer in pts who received postsurgical treatments (79.5 months, 95%CI: 66.4-92.7) than pts who received FU (46.3 months, 95%CI: 36.0-56.5; P=0.001). mPFS was 50.8 months (95%CI: 17.4-84.3), 103.6 months (95%CI: 11.7-195.6) and 120.2 months (95%CI: 40.5-199.8) in pts treated with CT alone, RT alone and RT + CT, respectively. Multivariate analysis showed that receiving a post-surgical treatment (P<0.001), and the extent of resection (P=0.043) were significantly correlated with PFS. Conclusions: Our study evaluated the role of treatments in LGG pts assessed with NGS and FISH. Post-surgical treatments are crucial to extend PFS in pts with IDH mutation and codel. The choice of post-surgical treatments seems to have a role, being CT alone less effective than RT and RT+CT. Longer FU is needed to provide information about OS.

scholarly journals Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Ricardo Vieira ◽  
Maria José Simões ◽  
Susana Carmona ◽  
Conceição Egas ◽  
Carlos Faro ◽  
...  
Keyword(s):  
Somatic Mutation ◽  
Suppressor Gene ◽  
Melanocytic Nevi ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Melanoma Patients ◽  
Low Prevalence ◽  
Melanoma Tissue ◽  
Formalin Fixed

DLEC1 has been suggested as a tumor suppressor gene in several cancers. DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing. However, little is known about the implication and prevalence of this mutation in primary melanomas or in melanocytic nevi. The aim of this study was to genotype DLEC1 D215N mutation in melanoma tissue and melanocytic nevi samples to confirm its occurrence and to estimate its prevalence. Primary melanomas (n=81) paired with synchronous or asynchronous metastases (n=21) from 81 melanoma patients and melanocytic nevi (n=28) were screened for DLEC1 D215N mutation. We found the mutation in 3 primary melanomas and in 2 melanocytic nevi, corresponding to a relatively low prevalence (3.7% and 7.1%, resp.). The pathogenic role of DLEC1 215N mutation is unclear. However, since the mutation has not been previously described in general population, its involvement in nevogenesis and melanoma progression remains a possibility to be clarified in future studies.

scholarly journals The Role of PCR in Diagnosis of a Rare Appendicular Tuberculosis and Mini Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Asmerom Tesfamariam Sengal ◽  
Ahmed Abdalla Mohamedani ◽  
Hanan Hasaan Hussein ◽  
Alaa Kamal
Keyword(s):  
Public Health Problem ◽  
Abdominal Tuberculosis ◽  
Etiologic Agent ◽  
The Body ◽  
Formalin Fixed Paraffin ◽  
Granulomatous Lesions ◽  
Formalin Fixed Paraffin Embedded ◽  
Polymerase Chain ◽  
Formalin Fixed

Tuberculosis is a prevalent public health problem especially in the poor developing countries and results in significant mortality. Albeit tuberculosis almost always affects any organ or system of the body, abdominal tuberculosis is less frequent; moreover, tuberculous appendicitis is very rare with an incidence estimated at about 0.1–0.6% of all gastrointestinal tuberculosis. The purpose of this report was to present an unusual case of primary tuberculous appendicitis and the approach used for accurate diagnosis as well as a current update on the disease. We are reporting a 30-year-old male who presented with acute abdominal pain, fever, and vomiting and was admitted with the clinical diagnosis of acute appendicitis. Patient was investigated thoroughly and histopathologic examination was strongly suggestive of tuberculous appendicitis; however, Ziehl-Neelsen (ZN) was negative in tissue section. To confirm the diagnosis, molecular biology [polymerase chain reaction (PCR)] study was performed from the formalin fixed paraffin embedded (FFPE) appendicular tissue and revealed presence ofMycobacterium tuberculosis. As there are numerous differential diagnoses in granulomatous lesions of appendix and due to the fact that appendicular tuberculosis is a rare phenomenon; verification etiologic agent is crucial for appropriate management of the disease.

scholarly journals Evaluation of T-Bet immunostaining in the counting of intraepithelial lymphocytes in celiac disease

2020 ◽  
Vol 6 (5) ◽  
Author(s):  
Amna E. Al-araji ◽  
Tuqa Z. Omran ◽  
Mohanad M. Ahmed ◽  
Nazar J. Metib
Keyword(s):  
Celiac Disease ◽  
Intraepithelial Lymphocytes ◽  
Clinicopathological Features ◽  
P Value ◽  
Formalin Fixed Paraffin ◽  
Histological Criteria ◽  
Formalin Fixed Paraffin Embedded ◽  
Potential Alternative ◽  
Almost All ◽  
Formalin Fixed

Objective: In this study, we aimed to evaluate CD3, T-bet and GATA3 staining of intraepithelial lymphocytes (IELs) in comparison to the routine H&E stains in celiac disease. Methods: a total of 50 patients, in whom celiac disease was diagnosed based on a combination of clinicopathological features, were enrolled in the study. Duodenal biopsied tissues were processed routinely into formalin fixed paraffin embedded (FFPE) blocks. Sections were prepared and stained with H&E and each of CD3, T-bet and GATA3. A number of histological criteria were measured to calculate the Marsh score. The results were analyzed using the IBM SPSS analytic software. Results: a positive correlation was found between the count of T-bet stained cells and the increase of intraepithelial lymphocytes (P-value = 0.001). In addition, low count of GATA3 stained cells was seen in almost all cases. The count of GATA3 stained cells was not affected by the increase in IELs count. Conclusions: the majority of increased IELs were stained with T-bet. Whereas in normal IELs count is less than half the IELs were stained with T-bet. This would indicate that T-bet immunostaining is a potential alternative to H&E and/or CD3 based counting of IELs.

scholarly journals TGFB-Induced Factor Homeobox 1 (TGIF) Expression in Breast Cancer

2021 ◽  
Author(s):  
Christine Stürken ◽  
Volker Möbus ◽  
Karin Milde-Langosch ◽  
Sabine Schmatloch ◽  
Peter Fasching ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Univariate Analysis ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Er Positive ◽  
Registration Number ◽  
Strong Staining ◽  
Well Differentiated ◽  
Dose Dense ◽  
Formalin Fixed

Abstract Background: Breast cancer (BC) is the most frequent female cancer its which preferentially metastasizes to bone. Mechanisms of bone tropism are poorly understood, however, the transcription factor TGFB-induced factor homeobox 1 (TGIF) is involved in bone metabolism and thus of potential interest.Methods: TGIF expression was analyzed by immunohistochemistry in 1197 formalin-fixed, paraffin-embedded tissue from BC patients treated in the GAIN study with two adjuvant dose-dense schedules of chemotherapy with or without bisphosphonate ibandronate. TGIF expression was categorized into negative/low and moderate/strong staining.Results: In 1197 samples, we found associations of higher TGIF protein expression with smaller tumor size (p = 0.015), well differentiated phenotype (p < 0.001) and estrogen receptor (ER)-positive BC (p < 0.001). Patients with higher TGIF expression levels showed a significantly better disease-free (log-rank p 0.019) and overall survival (log-rank p = 0.018), but no association with time to bone metastasis as first site of relapse. Stratified univariate analysis in molecular subgroups emphasized that elevated TGIF expression was prognostic for both DFS and OS in ER-positive BC patients (DFS: log-rank p = 0.009; OS: log-rank p = 0.008) and in the HER2-negative subgroup (DFS: log-rank p = 0.004; OS: log-rank p = 0.002).Conclusions: Our findings suggest that a loss of TGIF expression is associated with BC progression, especially in luminal carcinomas.Trial registration: This clinical trial has been registered with ClinicalTrials.gov; registration number: NCT00196872.

scholarly journals Detection of Human Cytomegalovirus in Patients with Epithelial Ovarian Cancer and its Impacts on Survival

2020 ◽  
Author(s):  
Min Yin ◽  
Aiping Chen ◽  
Fei Zhao ◽  
Xuechao Ji ◽  
Chuan Li ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Human Cytomegalovirus ◽  
Benign Tumors ◽  
Tissue Sections ◽  
Early Protein ◽  
Ovarian Carcinogenesis ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded

Abstract Background: The cause of epithelial ovarian cancer(EOC) is not elucidated. It has been proved that infectious agents could contribute to ovarian carcinogenesis. Human cytomegalovirus (HCMV) has been detected in several types of tumors. Objective: To investigate the potential role of HCMV infection in EOC, we evaluated the prevalence of HCMV proteins in EOC tissue sections and its impacts on patients’ survival. Methods: Formalin-fixed, paraffin-embedded tissues from 66 patients with EOC and 30 patients with benign ovarian cystadenoma were studied. Specimens were detected for expression of HCMV immediate-early protein (IE) and HCMV tegument protein (pp65) by immunohistochemistry. Results: HCMV-IE protein expression was detected in 82% of EOC and 36% of benign tumors; pp65 was detected in 97% of EOC and 63% of benign tumors. Extensive expression of HCMV-IE protein was associated with higher stage of EOC. Reactivation of latent HCMV within the tumor at interval debulking surery may be induced by neoadjuvant chemotherapy before surgery. Extensive HCMV-IE expression was associated with shorter median overall survival than focal or negative expression (39 versus 41 months, P = 0.03). Conclusions: This study demonstrate a high prevalence of HCMV proteins in tissue sections from patients with EOC. HCMV infections can be potential risks for EOC development. The relationship between HCMV and clinical outcomes highlight the need for further researches on the oncomodulatory role of HCMV in ovarian cancer.

scholarly journals Somatic BRCA Mutation in Cholangiocarcinoma Patient Utilized to Individualize an HBOC Syndrome

2019 ◽  
Author(s):  
Angelo Paradiso ◽  
Margherita Patruno ◽  
Maria Digennaro ◽  
Stefania Tommasi ◽  
Brunella Pilato ◽  
...  
Keyword(s):  
Absolute Risk ◽  
Brca Mutation ◽  
Brca2 Gene ◽  
Pathogenic Variant ◽  
Cancer Syndrome ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Brca2 Gene Mutation ◽  
First Time ◽  
Formalin Fixed

BRCA-associated hereditary breast and ovarian cancer syndrome (HBOC) implies increased absolute risk also for other malignancies such as cholangiocarcinoma (CCA). However, even if somatic mutations in CCA have been reported, there are no data on its utilization as predisposing genetic factor in a family. For the first time, we utilized CCA somatic BRCA mutation to individualize a family with HBOC. A 47-year-old woman (daughter of a patient died for CCA) accessed to our Genetic Councelling to evaluate her personal cancer risk. We performed a somatic BRCA1/2 NGS analysis on DNA extracted from formalin-fixed, paraffin-embedded CCA-tissue of her mother. After demonstration of pathogenic variant c.6468_6469delTC in BRCA2 gene mutation, the same germline pathogenic variant was found in DNA blood of one of two daugthers. So far, CCA tissue can be utilized, in addition to patient&rsquo;s selection to specific therapeutic strategies, also to individualize families belonging to HBOC syndrome.

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