scholarly journals Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas

2019 ◽  
Vol 78 (9) ◽  
pp. 788-790 ◽  
Author(s):  
Letícia Ferro Leal ◽  
Rodrigo de Oliveira Cavagna ◽  
Nathalia Cristina Campanella ◽  
Bruna Mançano ◽  
Gisele Caravina Almeida ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Molecular Subtype ◽  
Clinicopathological Features ◽  
Histological Subtype ◽  
Childhood Brain Tumors ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Hotspot Mutations ◽  
Formalin Fixed

Abstract Medulloblastoma is the most frequent malignant brain tumor in children, representing 20% of all childhood brain tumors. Currently, medulloblastomas are molecularly classified in 4 subgroups that are associated with distinctive clinicopathological features. KBTBD4 mutations were recently described in a subset of MBGRP3 and MBGRP4 medulloblastomas subgroups. However, no other studies reported KBTBD4 mutations in medulloblastomas. Thus, our aim was to investigate KBTBD4 mutations in a Brazilian series of medulloblastoma. We evaluated 128 medulloblastoma patients molecularly classified from 4 Brazilian reference centers. DNA from formalin-fixed, paraffin-embedded samples was screened for KBTBD4 hotspot mutations by Sanger sequencing. Most of the patients were male, average age was 16.5 years old and average overall survival was 55.9 months. The predominant histological subtype was the classic subtype, followed by nodular/desmoplastic, and the predominant medulloblastoma molecular subtype was the MBSHH subgroup (46%), followed by MBGRP3 and MBGRP4 (19%/each), and MBWNT (16%). Among the 128 samples, 111 were successfully sequenced. No KBTBD4 mutations were identified in 111 samples. Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups. Further studies in a larger series of MBGRP3 and MBGRP4 medulloblastomas are warranted to better assess role of KBTBD4 mutations.

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.

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 Molecular subtype classification of formalin-fixed, paraffin-embedded diffuse large B-cell lymphoma samples on the ICEPlex®system

2014 ◽  
Vol 167 (2) ◽  
pp. 281-285 ◽  
Author(s):  
Angela M. B. Collie ◽  
Jörk Nölling ◽  
Kiran M. Divakar ◽  
Jeffrey J. Lin ◽  
Paula Carver ◽  
...  
Keyword(s):  
B Cell ◽  
Cell Lymphoma ◽  
Molecular Subtype ◽  
B Cell Lymphoma ◽  
Large B Cell Lymphoma ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Formalin Fixed ◽  
Large B Cell

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 Role of Immunohistochemistry Markers (p53 and CEA), in Study of Colorectal Tumours

2021 ◽  
pp. 94-106
Author(s):  
Sapam Chingkhei Lakpa ◽  
R. Vinoth Kumar ◽  
Mary Lilly
Keyword(s):  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
High Rate ◽  
Common Cancer ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
P53 Tumour Suppressor Gene ◽  
Formalin Fixed ◽  
Colorectal Tumours

Colorectal cancer is the third most common cancer in men and the second in women globally. There is a marked variation in the incidence of colorectal carcinoma worldwide, where western countries having high rate compared to others. p53 tumour suppressor gene is one of the most intensively studied tumour markers in the colorectal tumours. Two markers were used, p53 (oncoprotein p53) and CEA (carcinoembryonic antigen) in the study. The 102 cases of paraffin-embedded samples were processed for the immunohistochemistry examination. After the analysis of the selected patients regarding the antibodies distribution, statistical analysis was performed. The current study showed that there was a statistically significant correlation existing between p53 and CEA in each tumour type irrespective of its histological grades. The immunohistochemistry (IHC) was performed on 4-µm thick sections from 10% formalin- fixed paraffin-embedded tissue blocks.

scholarly journals Detection of Corynebacterium kroppenstedtii in Granulomatous Lobular Mastitis Using Real-Time Polymerase Chain Reaction and Sanger Sequencing on Formalin-Fixed, Paraffin-Embedded Tissues

2021 ◽  
Author(s):  
Hamza Tariq ◽  
Preethi D. Menon ◽  
Hongxin Fan ◽  
Kumari V. Vadlamudi ◽  
Sri Lakshmi Pandeswara ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Real Time ◽  
Sanger Sequencing ◽  
Breast Abscess ◽  
Chain Reaction ◽  
Radiographic Findings ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Polymerase Chain ◽  
Formalin Fixed

Context.— Associations between granulomatous lobular mastitis (GLM) and Corynebacterium kroppenstedtii have been reported since 2002, but large scale studies to assess the actual prevalence of this bacterium in GLM have not been performed. Objective.— To assess the prevalence of C kroppenstedtii in GLM using real-time polymerase chain reaction and Sanger sequencing. Design.— We analyzed formalin-fixed, paraffin-embedded tissues from 67 cases of GLM by sequential DNA amplification and sequencing to assess the rate of C kroppenstedtii detection in GLM. A retrospective analysis including patient demographics, history of pregnancy and lactation, clinical signs and symptoms, radiographic findings, histologic pattern, Gram stain results, and microbial cultures was performed on 67 cases of GLM. In addition, 10 cases of nongranulomatous breast abscess were included as controls. Results.— C kroppenstedtii 16S rRNA SYBR real-time polymerase chain reaction was positive on formalin-fixed, paraffin-embedded tissues from 46 of 67 (68.7%) GLM cases, while all control cases were negative. Among the positive cases, the majority showed features of cystic neutrophilic granulomatous mastitis. Conclusions.— C kroppenstedtii was highly prevalent in GLM cases and was not found to be associated with nongranulomatous breast abscess in our study (P < .001).

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